Gene Scoring 985 total scored genes, 21 uncategorized
Database updated on June 20, 2019
Scoring process
We recognize that the gene scoring process we developed is only one of many methodologies that could have been employed to evaluate these genes. Our goal is to encourage more research, not less, and we hope that researchers will use these evaluations to design new experiments aimed at strengthening the evidence associating each gene with ASD. For more information on our scoring process, visit the About Gene Scoring – Criteria page.
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S Category S [115 genes]
Download this dataset| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ADNP | Activity-dependent neuroprotector homeobox | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34 | |
| ADSL | adenylosuccinate lyase | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| AHDC1 | AT-hook DNA binding motif containing 1 | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 11 | |
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| ANKRD11 | ankyrin repeat domain 11 | 16 | Rare Single Gene Mutation, Syndromic | 1 | S | 41 | |
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| ARID1B | AT-rich interaction domain 1B | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 38 | |
| ARX | aristaless related homeobox | X | Rare Single Gene Mutation, Syndromic | 1 | S | 17 | |
| ASXL3 | Additional sex combs like 3 (Drosophila) | 18 | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 4 | S | 13 | |
| BCL11A | B-cell CLL/lymphoma 11A (zinc finger protein) | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| BRAF | v-raf murine sarcoma viral oncogene homolog B | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| ATP1A1 | ATPase Na+/K+ transporting subunit alpha 1 | 1 | Rare Single Gene Mutation, Syndromic | 4 | S | 3 | |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 4 | S | 7 | |
| CDKL5 | cyclin-dependent kinase-like 5 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 35 | |
| CEP290 | Centrosomal protein 290kDa | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| CHD1 | chromodomain helicase DNA binding protein 1 | 5 | Rare Single Gene Mutation | 4 | S | 4 | |
| CHD2 | Chromodomain helicase DNA binding protein 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 31 | |
| CHD7 | chromodomain helicase DNA binding protein 7 | 8 | Rare Single Gene Mutation, Syndromic | 1 | S | 25 | |
| CHD8 | chromodomain helicase DNA binding protein 8 | 14 | Rare Single Gene Mutation, Functional | 1 | S | 42 | |
| CHD3 | chromodomain helicase DNA binding protein 3 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| CIC | capicua transcriptional repressor | 19 | Rare Single Gene Mutation, Functional | 1 | S | 5 | |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Syndromic | 3 | S | 4 | |
| CNOT3 | CCR4-NOT transcription complex subunit 3 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 5 | |
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 64 | |
| CUX2 | cut like homeobox 2 | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| DHCR7 | 7-dehydrocholesterol reductase | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| DMPK | dystrophia myotonica-protein kinase | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 12 | |
| DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 38 | |
| EBF3 | early B-cell factor 3 | 10 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| EP300 | E1A binding protein p300 | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| FMR1 | fragile X mental retardation 1 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| FBXO11 | F-box protein 11 | 2 | Rare Single Gene Mutation, Syndromic | 4 | S | 5 | |
| FOXG1 | Forkhead box G1 | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 25 | |
| FOXP1 | forkhead box P1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 44 | |
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 4 | S | 10 | |
| HNRNPU | heterogeneous nuclear ribonucleoprotein U | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 12 | |
| IQSEC2 | IQ motif and Sec7 domain 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| IRF2BPL | Interferon regulatory factor 2 binding protein-like | 14 | Rare Single Gene Mutation, Syndromic | 1 | S | 5 | |
| KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 12 | |
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | 20 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| KIF5C | Kinesin family member 5C | 2 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| KMT2A | Lysine (K)-specific methyltransferase 2A | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| MAGEL2 | MAGE-like 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| MBD5 | Methyl-CpG binding domain protein 5 | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 31 | |
| MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 3 | |
| MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 75 | |
| MED13 | mediator complex subunit 13 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| MED13L | Mediator complex subunit 13-like | 12 | Rare Single Gene Mutation, Syndromic | 1 | S | 27 | |
| MEF2C | myocyte enhancer factor 2C | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 33 | |
| MEIS2 | Meis homeobox 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| MTOR | Mechanistic target of rapamycin (serine/threonine kinase) | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 15 | |
| NAA15 | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| NACC1 | nucleus accumbens associated 1 | 19 | Rare Single Gene Mutation, Syndromic | 4 | S | 4 | |
| NBEA | neurobeachin | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 17 | |
| NF1 | neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 24 | |
| NIPBL | Nipped-B homolog (Drosophila) | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| NR2F1 | nuclear receptor subfamily 2 group F member 1 | 5 | Rare Single Gene Mutation, Syndromic | 4 | S | 11 | |
| NFIB | nuclear factor I B | 9 | Rare Single Gene Mutation, Syndromic | 4 | S | 4 | |
| NSD1 | nuclear receptor binding SET domain protein 1 | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 14 | |
| NTNG1 | netrin G1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | S | 8 | |
| PACS1 | phosphofurin acidic cluster sorting protein 1 | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| PCDH19 | protocadherin 19 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 33 | |
| PHIP | pleckstrin homology domain interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| POGZ | Pogo transposable element with ZNF domain | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 25 | |
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17 | Rare Single Gene Mutation, Syndromic | 4 | S | 6 | |
| PPP2R5D | Protein phosphatase 2, regulatory subunit B', delta | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Syndromic, Genetic Association | 3 | S | 6 | |
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | 17 | Syndromic | 1 | S | 3 | |
| PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 55 | |
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 12 | Rare Single Gene Mutation, Syndromic | 1 | S | 14 | |
| RAI1 | retinoic acid induced 1 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| PHF21A | PHD finger protein 21A | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| RERE | Arginine-glutamic acid dipeptide (RE) repeats | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 6 | |
| RNF135 | Ring finger protein 135 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | S | 3 | |
| RPS6KA3 | Ribosomal protein S6 kinase, 90kDa, polypeptide 3 | X | Rare Single Gene Mutation, Syndromic | 4 | S | 9 | |
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | S | 26 | |
| SCN1A | sodium channel, voltage-gated, type I, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 53 | |
| SETD1B | SET domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 6 | |
| SETD5 | SET domain containing 5 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 23 | |
| SHANK3 | SH3 and multiple ankyrin repeat domains 3 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 71 | |
| SIN3A | SIN3 transcription regulator family member A | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 20 | |
| SLC9A6 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 13 | |
| SMARCC2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 10 | |
| SMC3 | structural maintenance of chromosomes 3 | 10 | Rare Single Gene Mutation, Syndromic | 4 | S | 8 | |
| SOX5 | SRY-box 5 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 13 | |
| STXBP1 | Syntaxin binding protein 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 36 | |
| SYNE1 | spectrin repeat containing, nuclear envelope 1 | 6 | Rare Single Gene Mutation, Genetic Association | 4 | S | 15 | |
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 50 | |
| TCF20 | Transcription factor 20 (AR1) | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| TCF4 | Transcription factor 4 | 18 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 42 | |
| TLK2 | tousled-like kinase 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| TRIP12 | Thyroid hormone receptor interactor 12 | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| TSC1 | tuberous sclerosis 1 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 19 | |
| TSC2 | tuberous sclerosis 2 | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 29 | |
| TTN | titin | 2 | Rare Single Gene Mutation, Syndromic | 4 | S | 18 | |
| UBE3A | ubiquitin protein ligase E3A | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 27 | |
| UNC13A | unc-13 homolog A | 19 | Rare Single Gene Mutation, Syndromic | 4 | S | 5 | |
| UPF3B | UPF3B, regulator of nonsense mediated mRNA decay | X | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| TRAF7 | TNF receptor associated factor 7 | 16 | Rare Single Gene Mutation, Syndromic | 4 | S | 3 | |
| TRRAP | transformation/transcription domain associated protein | 7 | Rare Single Gene Mutation, Syndromic | 4 | S | 8 | |
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 7 | |
| VPS13B | vacuolar protein sorting 13 homolog B (yeast) | 8 | Rare Single Gene Mutation, Syndromic | 1 | S | 18 | |
| WAC | WW domain containing adaptor with coiled-coil | 10 | Rare Single Gene Mutation, Syndromic | 1 | S | 17 | |
| YY1 | YY1transcription factor | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 4 | |
| ZBTB20 | Zinc finger and BTB domain containing 20 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| ZNF462 | Zinc finger protein 462 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 |
1 Category 1 [146 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ADNP | Activity-dependent neuroprotector homeobox | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34 | |
| ADSL | adenylosuccinate lyase | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| AFF2 | AF4/FMR2 family, member 2 | X | Rare Single Gene Mutation, Syndromic | 1 | 15 | ||
| AHDC1 | AT-hook DNA binding motif containing 1 | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 11 | |
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| ANK2 | Ankyrin 2, neuronal | 4 | Rare Single Gene Mutation | 1 | 13 | ||
| ANK3 | ankyrin 3 | 10 | Rare Single Gene Mutation, Genetic Association | 1 | 25 | ||
| ANKRD11 | ankyrin repeat domain 11 | 16 | Rare Single Gene Mutation, Syndromic | 1 | S | 41 | |
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| ARID1B | AT-rich interaction domain 1B | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 38 | |
| ARX | aristaless related homeobox | X | Rare Single Gene Mutation, Syndromic | 1 | S | 17 | |
| ASH1L | Ash1 (absent, small, or homeotic)-like (Drosophila) | 1 | Rare Single Gene Mutation, Syndromic | 1 | 13 | ||
| ASXL3 | Additional sex combs like 3 (Drosophila) | 18 | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| ATRX | alpha thalassemia/mental retardation syndrome X-linked | X | Rare Single Gene Mutation, Syndromic | 1 | 17 | ||
| AUTS2 | autism susceptibility candidate 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 34 | ||
| BAZ2B | bromodomain adjacent to zinc finger domain 2B | 2 | Rare Single Gene Mutation | 1 | 3 | ||
| BCKDK | Branched chain ketoacid dehydrogenase kinase | 16 | Rare Single Gene Mutation | 1 | 3 | ||
| BCL11A | B-cell CLL/lymphoma 11A (zinc finger protein) | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| BRAF | v-raf murine sarcoma viral oncogene homolog B | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| BRSK2 | BR serine/threonine kinase 2 | 11 | Rare Single Gene Mutation, Syndromic | 1 | 3 | ||
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| CAPRIN1 | Cell cycle associated protein 1 | 11 | Rare Single Gene Mutation, Functional | 1 | 3 | ||
| CASK | calcium/calmodulin dependent serine protein kinase | X | Rare Single Gene Mutation, Syndromic | 1 | 12 | ||
| CDKL5 | cyclin-dependent kinase-like 5 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 35 | |
| CHD2 | Chromodomain helicase DNA binding protein 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 31 | |
| CHD7 | chromodomain helicase DNA binding protein 7 | 8 | Rare Single Gene Mutation, Syndromic | 1 | S | 25 | |
| CHD8 | chromodomain helicase DNA binding protein 8 | 14 | Rare Single Gene Mutation, Functional | 1 | S | 42 | |
| CASZ1 | castor zinc finger 1 | 1 | Rare Single Gene Mutation | 1 | 4 | ||
| CHD3 | chromodomain helicase DNA binding protein 3 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| CIC | capicua transcriptional repressor | 19 | Rare Single Gene Mutation, Functional | 1 | S | 5 | |
| CNOT3 | CCR4-NOT transcription complex subunit 3 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 5 | |
| CREBBP | CREB binding protein | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 24 | ||
| CTCF | CCCTC-binding factor | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 13 | ||
| CTNNB1 | catenin beta 1 | 3 | Rare Single Gene Mutation, Syndromic | 1 | 20 | ||
| CUL3 | Cullin 3 | 2 | Rare Single Gene Mutation, Genetic Association | 1 | 17 | ||
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| DHCR7 | 7-dehydrocholesterol reductase | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| DLG4 | discs large MAGUK scaffold protein 4 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 10 | ||
| DMPK | dystrophia myotonica-protein kinase | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 12 | |
| DSCAM | Down syndrome cell adhesion molecule | 21 | Rare Single Gene Mutation, Genetic Association | 1 | 8 | ||
| DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | 14 | Rare Single Gene Mutation, Syndromic | 1 | 13 | ||
| DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 38 | |
| EBF3 | early B-cell factor 3 | 10 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| EP300 | E1A binding protein p300 | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| FMR1 | fragile X mental retardation 1 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| FOXG1 | Forkhead box G1 | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 25 | |
| FOXP1 | forkhead box P1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 44 | |
| GIGYF1 | GRB10 interacting GYF protein 1 | 7 | Rare Single Gene Mutation | 1 | 5 | ||
| GIGYF2 | GRB10 interacting GYF protein 2 | 2 | Rare Single Gene Mutation | 1 | 7 | ||
| GRIN1 | Glutamate receptor, ionotropic, N-methyl D-aspartate 1 | 9 | Rare Single Gene Mutation, Functional | 1 | 15 | ||
| GRIN2A | glutamate receptor, ionotropic, N-methyl D-aspartate 2A | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 38 | ||
| GRIN2B | glutamate receptor, inotropic, N-methyl D-apartate 2B | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 48 | ||
| HNRNPH2 | heterogeneous nuclear ribonucleoprotein H2 | X | Rare Single Gene Mutation | 1 | 5 | ||
| HNRNPU | heterogeneous nuclear ribonucleoprotein U | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 12 | |
| HRAS | v-Ha-ras Harvey rat sarcoma viral oncogene homolog | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 11 | ||
| IQSEC2 | IQ motif and Sec7 domain 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| IRF2BPL | Interferon regulatory factor 2 binding protein-like | 14 | Rare Single Gene Mutation, Syndromic | 1 | S | 5 | |
| KATNAL2 | Katanin p60 subunit A-like 2 | 18 | Rare Single Gene Mutation | 1 | 9 | ||
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | 20 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | 8 | Rare Single Gene Mutation, Genetic Association | 1 | 7 | ||
| KDM6B | Lysine (K)-specific demethylase 6B | 17 | Rare Single Gene Mutation | 1 | 8 | ||
| KMT2A | Lysine (K)-specific methyltransferase 2A | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| KMT5B | lysine methyltransferase 5B | 11 | Rare Single Gene Mutation, Syndromic | 1 | 10 | ||
| LZTR1 | Leucine-zipper-like transcription regulator 1 | 22 | Rare Single Gene Mutation, Syndromic | 1 | 9 | ||
| MAGEL2 | MAGE-like 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| MBD5 | Methyl-CpG binding domain protein 5 | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 31 | |
| MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 3 | |
| MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 75 | |
| MED13 | mediator complex subunit 13 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| MED13L | Mediator complex subunit 13-like | 12 | Rare Single Gene Mutation, Syndromic | 1 | S | 27 | |
| MEF2C | myocyte enhancer factor 2C | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 33 | |
| MEIS2 | Meis homeobox 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| MTOR | Mechanistic target of rapamycin (serine/threonine kinase) | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 15 | |
| MYT1L | Myelin transcription factor 1-like | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 16 | ||
| NAA15 | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| NBEA | neurobeachin | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 17 | |
| NCKAP1 | NCK-associated protein 1 | 2 | Rare Single Gene Mutation | 1 | 7 | ||
| NF1 | neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 24 | |
| NEXMIF | neurite extension and migration factor | X | Rare Single Gene Mutation, Syndromic | 1 | 19 | ||
| NIPBL | Nipped-B homolog (Drosophila) | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| NLGN2 | Neuroligin 2 | 17 | Rare Single Gene Mutation, Functional | 1 | 8 | ||
| NLGN3 | neuroligin 3 | X | Rare Single Gene Mutation | 1 | 32 | ||
| NLGN4X | neuroligin 4, X-linked | X | Rare Single Gene Mutation, Genetic Association | 1 | 30 | ||
| NR4A2 | nuclear receptor subfamily 4 group A member 2 | 2 | Rare Single Gene Mutation | 1 | 6 | ||
| NRXN1 | neurexin 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 78 | ||
| NRXN2 | neurexin 2 | 11 | Rare Single Gene Mutation, Genetic Association | 1 | 10 | ||
| NRXN3 | neurexin 3 | 14 | Rare Single Gene Mutation, Genetic Association | 1 | 17 | ||
| NSD1 | nuclear receptor binding SET domain protein 1 | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 14 | |
| PACS1 | phosphofurin acidic cluster sorting protein 1 | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| PCDH19 | protocadherin 19 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 33 | |
| PHF3 | PHD finger protein 3 | 6 | Rare Single Gene Mutation | 1 | 2 | ||
| PHIP | pleckstrin homology domain interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| POGZ | Pogo transposable element with ZNF domain | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 25 | |
| PPP2R5D | Protein phosphatase 2, regulatory subunit B', delta | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | 17 | Syndromic | 1 | S | 3 | |
| PTCHD1 | patched domain containing 1 | X | Rare Single Gene Mutation, Genetic Association | 1 | 11 | ||
| PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 55 | |
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 12 | Rare Single Gene Mutation, Syndromic | 1 | S | 14 | |
| RAI1 | retinoic acid induced 1 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| PHF21A | PHD finger protein 21A | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| RELN | Reelin | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 50 | ||
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| RALGAPB | Ral GTPase activating protein non-catalytic beta subunit | 20 | Rare Single Gene Mutation | 1 | 3 | ||
| RERE | Arginine-glutamic acid dipeptide (RE) repeats | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 6 | |
| RFX3 | regulatory factor X3 | 9 | Rare Single Gene Mutation | 1 | 5 | ||
| RIMS1 | Regulating synaptic membrane exocytosis 1 | 6 | Rare Single Gene Mutation, Genetic Association | 1 | 6 | ||
| SCN1A | sodium channel, voltage-gated, type I, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 53 | |
| SCN2A | sodium channel, voltage-gated, type II, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic | 1 | 57 | ||
| SCN8A | sodium channel, voltage gated, type VIII, alpha subunit | 12 | Rare Single Gene Mutation, Syndromic | 1 | 33 | ||
| SETBP1 | SET binding protein 1 | 18 | Rare Single Gene Mutation, Syndromic | 1 | 12 | ||
| SETD2 | SET domain containing 2 | 3 | Rare Single Gene Mutation, Syndromic | 1 | 10 | ||
| SETD5 | SET domain containing 5 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 23 | |
| SHANK2 | SH3 and multiple ankyrin repeat domains 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 32 | ||
| SHANK3 | SH3 and multiple ankyrin repeat domains 3 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 71 | |
| SIN3A | SIN3 transcription regulator family member A | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 20 | |
| SLC9A6 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 13 | |
| SMARCC2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 10 | |
| SOX5 | SRY-box 5 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 13 | |
| SPAST | Spastin | 2 | Rare Single Gene Mutation | 1 | 9 | ||
| SRCAP | Snf2 related CREBBP activator protein | 16 | Rare Single Gene Mutation | 1 | 5 | ||
| STXBP1 | Syntaxin binding protein 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 36 | |
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 50 | |
| TANC2 | etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 17 | Rare Single Gene Mutation | 1 | 6 | ||
| TBR1 | T-box, brain, 1 | 2 | Rare Single Gene Mutation, Genetic Association | 1 | 24 | ||
| TCF20 | Transcription factor 20 (AR1) | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| TCF4 | Transcription factor 4 | 18 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 42 | |
| TLK2 | tousled-like kinase 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| TRIO | Trio Rho guanine nucleotide exchange factor | 5 | Rare Single Gene Mutation, Syndromic | 1 | 22 | ||
| TRIP12 | Thyroid hormone receptor interactor 12 | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| TSC1 | tuberous sclerosis 1 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 19 | |
| TSC2 | tuberous sclerosis 2 | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 29 | |
| TSHZ3 | teashirt zinc finger homeobox 3 | 19 | Rare Single Gene Mutation, Functional | 1 | 3 | ||
| UBE3A | ubiquitin protein ligase E3A | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 27 | |
| UPF3B | UPF3B, regulator of nonsense mediated mRNA decay | X | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| VPS13B | vacuolar protein sorting 13 homolog B (yeast) | 8 | Rare Single Gene Mutation, Syndromic | 1 | S | 18 | |
| WAC | WW domain containing adaptor with coiled-coil | 10 | Rare Single Gene Mutation, Syndromic | 1 | S | 17 | |
| WDFY3 | WD repeat and FYVE domain containing 3 | 4 | Rare Single Gene Mutation, Functional | 1 | 14 | ||
| YY1 | YY1transcription factor | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 4 | |
| ZBTB20 | Zinc finger and BTB domain containing 20 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| ZNF292 | zinc finger protein 292 | 6 | Rare Single Gene Mutation | 1 | 4 | ||
| ZNF462 | Zinc finger protein 462 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 |
2 Category 2 [33 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 18 | ||
| CACNA1H | calcium channel, voltage-dependent, alpha 1H subunit | 16 | Rare Single Gene Mutation | 2 | 23 | ||
| CACNA2D3 | Calcium channel, voltage-dependent, alpha 2/delta subunit 3 | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| CEP41 | testis specific, 14 | 7 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
| CNTN4 | contactin 4 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 21 | ||
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 64 | |
| CTNND2 | Catenin (cadherin-associated protein), delta 2 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| CUX1 | cut like homeobox 1 | 7 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| DIP2C | disco interacting protein 2 homolog C | 10 | Rare Single Gene Mutation | 2 | 2 | ||
| ERBIN | erbb2 interacting protein | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| GABRB3 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | 15 | Rare Single Gene Mutation, Genetic Association | 2 | 37 | ||
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| GRIP1 | glutamate receptor interacting protein 1 | 12 | Rare Single Gene Mutation | 2 | 12 | ||
| ILF2 | Interleukin enhancer binding factor 2 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
| INTS6 | Integrator complex subunit 6 | 13 | Rare Single Gene Mutation | 2 | 4 | ||
| KAT2B | K(lysine) acetyltransferase 2B | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| KDM5B | Lysine (K)-specific demethylase 5B | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 12 | ||
| KDM6A | lysine demethylase 6A | X | Rare Single Gene Mutation, Syndromic | 2 | 6 | ||
| LEO1 | LEO1 homolog, Paf1/RNA polymerase II complex component | 15 | Rare Single Gene Mutation | 2 | 3 | ||
| MACROD2 | MACRO domain containing 2 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 19 | ||
| MET | met proto-oncogene (hepatocyte growth factor receptor) | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 37 | ||
| NCOR1 | nuclear receptor corepressor 1 | 17 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| MSNP1AS | Moesinpseudogene 1, antisense | 5 | Genetic Association, Functional | 2 | 12 | ||
| RANBP17 | RAN binding protein 17 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| SCN9A | sodium voltage-gated channel alpha subunit 9 | 2 | Rare Single Gene Mutation | 2 | 5 | ||
| SET | SETnuclear proto-oncogene | 9 | Rare Single Gene Mutation | 2 | 4 | ||
| SRSF11 | serine and arginine rich splicing factor 11 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
| TAOK2 | TAO kinase 2 | 16 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| TBL1XR1 | transducin beta like 1 X-linked receptor 1 | 3 | Rare Single Gene Mutation, Syndromic | 2 | 18 | ||
| TNRC6B | Trinucleotide repeat containing 6B | 22 | Rare Single Gene Mutation | 2 | 7 | ||
| UBN2 | ubinuclein 2 | 7 | Rare Single Gene Mutation | 2 | 3 | ||
| USP15 | ubiquitin specific peptidase 15 | 12 | Rare Single Gene Mutation | 2 | 3 | ||
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 7 |
3 Category 3 [168 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ACHE | Acetylcholinesterase (Yt blood group) | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| ADA | adenosine deaminase | 20 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| ADCY3 | adenylate cyclase 3 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
| AGAP2 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
| AGO1 | argonaute 1, RISC catalytic component | 1 | Rare Single Gene Mutation | 3 | 7 | ||
| AKAP9 | A kinase (PRKA) anchor protein 9 | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| AMPD1 | Adenosine monophosphate deaminase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 3 | ||
| AMT | Aminomethyltransferase | 3 | Rare Single Gene Mutation | 3 | 1 | ||
| ANXA1 | Annexin A1 | 9 | Rare Single Gene Mutation | 3 | 2 | ||
| APBB1 | amyloid beta precursor protein binding family B member 1 | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| APH1A | APH1A gamma secretase subunit | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| AGO4 | argonaute RISC catalytic component 4 | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| ASAP2 | ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| ASPM | abnormal spindle microtubule assembly | 1 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| ASTN2 | astrotactin 2 | 9 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
| ATP10A | Probable phospholipid-transporting ATPase VA | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
| ATP2B2 | ATPase, Ca++ transporting, plasma membrane 2 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
| AVPR1A | arginine vasopressin receptor 1A | 12 | Rare Single Gene Mutation, Genetic Association | 3 | 21 | ||
| BTAF1 | RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) | 10 | Rare Single Gene Mutation | 3 | 5 | ||
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | 1 | Rare Single Gene Mutation | 3 | 9 | ||
| CACNB2 | Calcium channel, voltage-dependent, beta 2 subunit | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
| CC2D1A | Coiled-coil and C2 domain containing 1A | 19 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| CCT4 | Chaperonin containing TCP1, subunit 4 (delta) | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| CDC42BPB | CDC42 binding protein kinase beta (DMPK-like) | 14 | Rare Single Gene Mutation | 3 | 7 | ||
| CELF4 | CUGBP, Elav-like family member 4 | 18 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| CEP135 | centrosomal protein 135 | 4 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| CGNL1 | Cingulin-like 1 | 15 | Rare Single Gene Mutation | 3 | 3 | ||
| CCNG1 | cyclin G1 | 5 | Rare Single Gene Mutation | 3 | 1 | ||
| CDH13 | cadherin 13 | 16 | Rare Single Gene Mutation | 3 | 2 | ||
| CHMP1A | charged multivesicular body protein 1A | 16 | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
| CHRNA7 | cholinergic receptor, nicotinic, alpha 7 | 15 | Rare Single Gene Mutation | 3 | 13 | ||
| CIB2 | Calcium and integrin binding family member 2 | 15 | Rare Single Gene Mutation | 3 | 1 | ||
| CLASP1 | cytoplasmic linker associated protein 1 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Syndromic | 3 | S | 4 | |
| CNR1 | cannabinoid receptor 1 (brain) | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 7 | ||
| CNTN5 | Contactin 5 | 11 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
| CNTN6 | Contactin 6 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
| CNTNAP4 | Contactin associated protein-like 4 | 16 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| CTTNBP2 | cortactin binding protein 2 | 7 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| CUL7 | Cullin 7 | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| CPEB4 | cytoplasmic polyadenylation element binding protein 4 | 5 | Functional | 3 | 1 | ||
| CYFIP1 | cytoplasmic FMR1 interacting protein 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 16 | ||
| DAPP1 | Dual adaptor of phosphotyrosine and 3-phosphoinositides | 4 | Rare Single Gene Mutation | 3 | 1 | ||
| DENR | density-regulated protein | 12 | Rare Single Gene Mutation | 3 | 3 | ||
| DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila) | 21 | Rare Single Gene Mutation | 3 | 5 | ||
| DISC1 | disrupted in schizophrenia 1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 34 | ||
| DLGAP1 | DLG associated protein 1 | 18 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| DOCK8 | dedicator of cytokinesis 8 | 9 | Rare Single Gene Mutation | 3 | 8 | ||
| DPP10 | Dipeptidyl-peptidase 10 | 2 | Rare Single Gene Mutation | 3 | 11 | ||
| DPYSL2 | dihydropyrimidinase like 2 | 8 | Rare Single Gene Mutation, Genetic Association | 3 | 12 | ||
| DLX3 | distal-less homeobox 3 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| EFR3A | EFR3 homolog A (S. cerevisiae) | 8 | Rare Single Gene Mutation | 3 | 5 | ||
| ELAVL3 | ELAV like neuron-specific RNA binding protein 3 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| ELP4 | Elongator acetyltransferase complex subunit 4 | 11 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| EP400 | E1A binding protein p400 | 12 | Rare Single Gene Mutation | 3 | 6 | ||
| EMSY | EMSY, BRCA2 interacting transcriptional repressor | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| ETFB | Electron-transfer-flavoprotein, beta polypeptide | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| FAM92B | Family with sequence similarity 92, member B | 16 | Rare Single Gene Mutation | 3 | 3 | ||
| FBN1 | Fibrillin 1 | 15 | Rare Single Gene Mutation | 3 | 10 | ||
| FOXP2 | forkhead box P2 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 41 | ||
| GGNBP2 | gametogenetin binding protein 2 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| GPC4 | glypican 4 | X | Rare Single Gene Mutation | 3 | 2 | ||
| GPHN | Gephyrin | 14 | Rare Single Gene Mutation | 3 | 8 | ||
| GRID1 | Glutamate receptor, ionotropic, delta 1 | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 18 | ||
| GRIK5 | Glutamate receptor, ionotropic, kainate 5 | 19 | Rare Single Gene Mutation | 3 | 8 | ||
| GABRG3 | gamma-aminobutyric acid type A receptor gamma3 subunit | 15 | Genetic Association | 3 | 9 | ||
| GALNT8 | polypeptide N-acetylgalactosaminyltransferase 8 | 12 | Rare Single Gene Mutation | 3 | 1 | ||
| HECTD4 | HECT domain E3 ubiquitin protein ligase 4 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
| HECW2 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 2 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| HIVEP3 | human immunodeficiency virus type I enhancer binding protein 3 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
| HMGN1 | high mobility group nucleosome binding domain 1 | 21 | Genetic Association | 3 | 1 | ||
| ICA1 | islet cell autoantigen 1 | 7 | Rare Single Gene Mutation | 3 | 8 | ||
| ITGB3 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 17 | Rare Single Gene Mutation, Genetic Association | 3 | 14 | ||
| JARID2 | jumonji and AT-rich interaction domain containing 2 | 6 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
| KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 12 | |
| KCNJ10 | potassium voltage-gated channel subfamily J member 10 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 20 | ||
| KDM5C | lysine demethylase 5C | X | Rare Single Gene Mutation, Syndromic, Functional | 3 | 22 | ||
| KIAA1586 | KIAA1586 | 6 | Rare Single Gene Mutation | 3 | 3 | ||
| KIRREL3 | Kin of IRRE like 3 (Drosophila) | 11 | Rare Single Gene Mutation | 3 | 15 | ||
| KCNS3 | potassium voltage-gated channel modifier subfamily S member 3 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| KDM4C | lysine demethylase 4C | 9 | Rare Single Gene Mutation | 3 | 1 | ||
| KIF14 | kinesin family member 14 | 1 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 7 | ||
| LAMB1 | laminin, beta 1 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| LMX1B | LIM homeobox transcription factor 1 beta | 9 | Genetic Association | 3 | 1 | ||
| MFRP | Membrane frizzled-related protein | 11 | Rare Single Gene Mutation | 3 | 6 | ||
| MYO5A | myosin VA | 15 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
| MIR137 | microRNA 137 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | 10 | ||
| MYO9B | Myosin IXB | 19 | Rare Single Gene Mutation | 3 | 4 | ||
| NAV2 | neuron navigator 2 | 11 | Rare Single Gene Mutation | 3 | 9 | ||
| NINL | Ninein-like | 20 | Rare Single Gene Mutation | 3 | 4 | ||
| NLGN1 | neuroligin 1 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 17 | ||
| NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
| MYH10 | myosin heavy chain 10 | 17 | Rare Single Gene Mutation | 3 | 5 | ||
| NFE2L3 | nuclear factor, erythroid 2 like 3 | 7 | Rare Single Gene Mutation | 3 | 3 | ||
| NUAK1 | NUAK family, SNF1-like kinase, 1 | 12 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
| OPHN1 | oligophrenin 1 | X | Rare Single Gene Mutation, Syndromic | 3 | 14 | ||
| OR52M1 | Olfactory receptor, family 52, subfamily M, member 1 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
| OTUD7A | OTU deubiquitinase 7A | 15 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| OXTR | oxytocin receptor | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 44 | ||
| P2RX5 | Purinergic receptor P2X, ligand gated ion channel, 5 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| P4HA2 | Prolyl 4-hydroxylase, alpha polypeptide II | 5 | Rare Single Gene Mutation | 3 | 4 | ||
| PAH | Phenylalanine hydroxylase | 12 | Rare Single Gene Mutation, Syndromic | 3 | 3 | ||
| PARD3B | Par-3 partitioning defective 3 homolog B (C. elegans) | 2 | Rare Single Gene Mutation, Genetic Association | 3 | 7 | ||
| NUDCD2 | NudC domain containing 2 | 5 | Rare Single Gene Mutation | 3 | 2 | ||
| PAK2 | p21 (RAC1) activated kinase 2 | 3 | Rare Single Gene Mutation | 3 | 4 | ||
| PAX5 | Paired box 5 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
| PER2 | period circadian clock 2 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
| PHF2 | PHD finger protein 2 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
| PHRF1 | PHD and ring finger domains 1 | 11 | Rare Single Gene Mutation | 3 | 4 | ||
| PLCB1 | phospholipase C, beta 1 (phosphoinositide-specific) | 20 | Rare Single Gene Mutation | 3 | 7 | ||
| PLXNA4 | Plexin A4 | 7 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| PLXNB1 | plexin B1 | 3 | Rare Single Gene Mutation | 3 | 3 | ||
| PREX1 | Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 | 20 | Genetic Association | 3 | 1 | ||
| PRICKLE1 | Prickle homolog 1 (Drosophila) | 12 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 4 | ||
| PRICKLE2 | prickle planar cell polarity protein 2 | 3 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| PRKCB | protein kinase C beta | 16 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Syndromic, Genetic Association | 3 | S | 6 | |
| PRKN | parkin RBR E3 ubiquitin protein ligase | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 15 | ||
| PTK7 | Protein tyrosine kinase 7 (inactive) | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| PYHIN1 | Pyrin and HIN domain family, member 1 | 1 | Rare Single Gene Mutation | 3 | 4 | ||
| RAB2A | RAB2A, member RAS oncogene family | 8 | Rare Single Gene Mutation | 3 | 8 | ||
| RAB43 | RAB43, member RAS oncogene family | 3 | Rare Single Gene Mutation | 3 | 2 | ||
| RBFOX1 | RNA binding protein, fox-1 homolog (C. elegans) 1 | 16 | Rare Single Gene Mutation, Genetic Association | 3 | 33 | ||
| RBM27 | RNA binding motif protein 27 | 5 | Rare Single Gene Mutation | 3 | 3 | ||
| PHB | prohibitin | 17 | Genetic Association | 3 | 1 | ||
| PON1 | paraoxonase 1 | 7 | Genetic Association | 3 | 5 | ||
| ROBO2 | roundabout guidance receptor 2 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
| SAE1 | SUMO1 activating enzyme subunit 1 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| SBF1 | SET binding factor 1 | 22 | Rare Single Gene Mutation | 3 | 8 | ||
| SEMA5A | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 16 | ||
| SHANK1 | SH3 and multiple ankyrin repeat domains 1 | 19 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| SHOX | short stature homeobox | X,Y | Rare Single Gene Mutation | 3 | 2 | ||
| SLC12A5 | Solute carrier family 12 (potassium/chloride transporter), member 5 | 20 | Rare Single Gene Mutation | 3 | 5 | ||
| SLC35B1 | solute carrier family 35 member B1 | 17 | Genetic Association | 3 | 1 | ||
| SLC38A10 | solute carrier family 38, member 10 | 17 | Rare Single Gene Mutation | 3 | 1 | ||
| SLC6A3 | Solute carrier family 6 (neurotransmitter transporter), member 3 | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 15 | ||
| SLC7A3 | Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 | X | Rare Single Gene Mutation | 3 | 2 | ||
| SLC7A5 | solute carrier family 7 member 5 | 16 | Functional | 3 | 2 | ||
| SMAD4 | SMAD family member 4 | 18 | Rare Single Gene Mutation | 3 | 4 | ||
| SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 19 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| SPARCL1 | SPARC like 1 | 4 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| STXBP5 | Syntaxin binding protein 5 (tomosyn) | 6 | Rare Single Gene Mutation | 3 | 6 | ||
| TAF6 | TATA-box binding protein associated factor 6 | 7 | Rare Single Gene Mutation | 3 | 2 | ||
| TBC1D31 | TBC1 domain family, member 31 | 8 | Rare Single Gene Mutation | 3 | 3 | ||
| SLITRK5 | SLIT and NTRK like family member 5 | 13 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| SNX5 | sorting nexin 5 | 20 | Rare Single Gene Mutation | 3 | 3 | ||
| SPEN | spenfamily transcriptional repressor | 1 | Rare Single Gene Mutation | 3 | 6 | ||
| ST8SIA2 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | 15 | Rare Single Gene Mutation, Genetic Association | 3 | 8 | ||
| TCF7L2 | Transcription factor 7-like 2 (T-cell specific, HMG-box) | 10 | Rare Single Gene Mutation | 3 | 3 | ||
| TERF2 | Telomeric repeat binding factor 2 | 16 | Rare Single Gene Mutation | 3 | 3 | ||
| TET2 | Tet methylcytosine dioxygenase 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
| TMLHE | trimethyllysine hydroxylase, epsilon | X | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
| TRAPPC9 | trafficking protein particle complex 9 | 8 | Rare Single Gene Mutation, Syndromic | 3 | 13 | ||
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
| TRPM1 | transient receptor potential cation channel subfamily M member 1 | 15 | Rare Single Gene Mutation | 3 | 3 | ||
| UBE3C | Ubiquitin protein ligase E3C | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| UBR5 | ubiquitin protein ligase E3 component n-recognin 5 | 8 | Rare Single Gene Mutation | 3 | 6 | ||
| UNC79 | unc-79 homolog, NALCN channel complex subunit | 14 | Rare Single Gene Mutation | 3 | 3 | ||
| USP45 | Ubiquitin specific peptidase 45 | 6 | Rare Single Gene Mutation | 3 | 2 | ||
| VIL1 | Villin 1 | 2 | Rare Single Gene Mutation | 3 | 1 | ||
| WWOX | WW domain containing oxidoreductase | 16 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| ZC3H4 | zinc finger CCCH-type containing 4 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| ZMYND11 | Zinc finger, MYND-type containing 11 | 10 | Rare Single Gene Mutation, Syndromic | 3 | 10 | ||
| WDFY4 | WDFY family member 4 | 10 | Rare Single Gene Mutation | 3 | 5 | ||
| ZNF804A | Zinc finger protein 804A | 2 | Rare Single Gene Mutation, Genetic Association | 3 | 13 |
4 Category 4 [438 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ABCA10 | ATP-binding cassette, sub-family A (ABC1), member 10 | 17 | Rare Single Gene Mutation | 4 | 1 | ||
| ABCA13 | ATP binding cassette subfamily A member 13 | 7 | Rare Single Gene Mutation, Functional | 4 | 5 | ||
| ABCA7 | ATP-binding cassette, sub-family A (ABC1), member 7 | 19 | Rare Single Gene Mutation | 4 | 2 | ||
| ACE | angiotensin I converting enzyme | 17 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| ADCY5 | Adenylate cyclase 5 | 3 | Rare Single Gene Mutation | 4 | 6 | ||
| ADK | adenosine kinase | 10 | Rare Single Gene Mutation | 4 | 2 | ||
| ADORA3 | Adenosine A3 receptor | 1 | Rare Single Gene Mutation, Functional | 4 | 2 | ||
| AGAP1 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 | 2 | Rare Single Gene Mutation | 4 | 8 | ||
| AGBL4 | ATP/GTP binding protein-like 4 | 1 | Rare Single Gene Mutation | 4 | 3 | ||
| AGMO | alkylglycerol monooxygenase | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| AGTR2 | angiotensin II receptor, type 2 | X | Rare Single Gene Mutation | 4 | 3 | ||
| APBA2 | amyloid beta (A4) precursor protein-binding, family A, member 2 | 15 | Rare Single Gene Mutation | 4 | 7 | ||
| ARHGAP32 | Rho GTPase activating protein 32 | 11 | Rare Single Gene Mutation, Functional | 4 | 7 | ||
| ARHGAP5 | Rho GTPase activating protein 5 | 14 | Rare Single Gene Mutation | 4 | 4 | ||
| ARHGEF10 | Rho guanine nucleotide exchange factor 10 | 8 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| ARNT2 | aryl-hydrocarbon receptor nuclear translocator 2 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 11 | ||
| ABAT | 4-aminobutyrate aminotransferase | 16 | Genetic Association | 4 | 4 | ||
| ACTN4 | actinin alpha 4 | 19 | Rare Single Gene Mutation | 4 | 4 | ||
| ADORA2A | adenosine A2a receptor | 22 | Genetic Association | 4 | 7 | ||
| ADRB2 | adrenergic, beta-2-, receptor, surface | 5 | Genetic Association | 4 | 10 | ||
| AGO3 | argonaute RISC catalytic component 3 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| ANKS1B | ankyrin repeat and sterile alpha motif domain containing 1B | 12 | Rare Single Gene Mutation | 4 | 1 | ||
| ARHGAP11B | Rho GTPase activating protein 11B | 15 | Rare Single Gene Mutation | 4 | 2 | ||
| ASMT | acetylserotonin O-methyltransferase | X,Y | Rare Single Gene Mutation, Genetic Association | 4 | 9 | ||
| AR | androgen receptor | X | Genetic Association | 4 | 6 | ||
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 4 | S | 13 | |
| ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | 12 | Rare Single Gene Mutation | 4 | 2 | ||
| AVPR1B | arginine vasopressin receptor 1B | 1 | Genetic Association, Functional | 4 | 8 | ||
| AZGP1 | alpha-2-glycoprotein 1, zinc-binding | 7 | Rare Single Gene Mutation | 4 | 2 | ||
| BBS4 | Bardet-Biedl syndrome 4 | 15 | Rare Single Gene Mutation, Syndromic | 4 | 3 | ||
| BIRC6 | Baculoviral IAP repeat containing 6 | 2 | Rare Single Gene Mutation | 4 | 8 | ||
| BRCA2 | breast cancer 2, early onset | 13 | Rare Single Gene Mutation | 4 | 4 | ||
| BICDL1 | BICD family like cargo adaptor 1 | 12 | Genetic Association | 4 | 2 | ||
| ATP1A1 | ATPase Na+/K+ transporting subunit alpha 1 | 1 | Rare Single Gene Mutation, Syndromic | 4 | S | 3 | |
| BCAS1 | breast carcinoma amplified sequence 1 | 20 | Rare Single Gene Mutation | 4 | 2 | ||
| BRD4 | bromodomain containing 4 | 19 | Rare Single Gene Mutation, Syndromic | 4 | 4 | ||
| BST1 | bone marrow stromal cell antigen 1 | 4 | Genetic Association, Functional | 4 | 5 | ||
| C15orf62 | chromosome 15 open reading frame 62 | 15 | Rare Single Gene Mutation | 4 | 2 | ||
| C3orf58 | chromosome 3 open reading frame 58 | 3 | Rare Single Gene Mutation | 4 | 3 | ||
| C4B | complement component 4B | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 6 | ||
| CA6 | carbonic anhydrase VI | 1 | Rare Single Gene Mutation | 4 | 6 | ||
| CACNA1F | calcium channel, voltage-dependent, alpha 1F | X | Rare Single Gene Mutation, Genetic Association | 4 | 7 | ||
| CACNA1B | calcium voltage-gated channel subunit alpha1 B | 9 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 9 | ||
| CACNA1G | calcium channel, voltage-dependent, T type, alpha 1G subunit | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 19 | ||
| CACNA1I | Calcium channel, voltage-dependent, T type, alpha 1I subunit | 22 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| CADM1 | cell adhesion molecule 1 | 11 | Rare Single Gene Mutation | 4 | 9 | ||
| CADPS2 | Ca2+-dependent activator protein for secretion 2 | 7 | Rare Single Gene Mutation, Functional | 4 | 12 | ||
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 4 | S | 7 | |
| CAPN12 | Calpain 12 | 19 | Rare Single Gene Mutation | 4 | 5 | ||
| CARD11 | caspase recruitment domain family member 11 | 7 | Rare Single Gene Mutation | 4 | 1 | ||
| CASC4 | cancer susceptibility candidate 4 | 15 | Rare Single Gene Mutation | 4 | 4 | ||
| CCDC88C | Coiled-coil domain containing 88C | 14 | Rare Single Gene Mutation | 4 | 6 | ||
| CCDC91 | coiled-coil domain containing 91 | 12 | Rare Single Gene Mutation | 4 | 3 | ||
| CD276 | CD276molecule | 15 | Rare Single Gene Mutation | 4 | 1 | ||
| CD38 | CD38 molecule | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 8 | ||
| CDH10 | cadherin 10, type 2 (T2-cadherin) | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 9 | ||
| CDH11 | cadherin 11 | 16 | Rare Single Gene Mutation | 4 | 4 | ||
| CDH8 | cadherin 8, type 2 | 16 | Rare Single Gene Mutation | 4 | 9 | ||
| CDH9 | cadherin 9, type 2 (T1-cadherin) | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 7 | ||
| CECR2 | CECR2, histone acetyl-lysine reader | 22 | Rare Single Gene Mutation | 4 | 2 | ||
| CELF6 | CUGBP, Elav-like family member 6 | 15 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| CEP290 | Centrosomal protein 290kDa | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| CHD1 | chromodomain helicase DNA binding protein 1 | 5 | Rare Single Gene Mutation | 4 | S | 4 | |
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | 7 | Rare Single Gene Mutation | 4 | 3 | ||
| CADM2 | Cell adhesion molecule 2 | 3 | Genetic Association | 4 | 3 | ||
| CAMK4 | Calcium/calmodulin-dependent protein kinase IV | 5 | Genetic Association | 4 | 1 | ||
| CD99L2 | CD99 molecule like 2 | X | Genetic Association | 4 | 1 | ||
| CDH22 | cadherin-like 22 | 20 | Genetic Association | 4 | 4 | ||
| CHRM3 | cholinergic receptor muscarinic 3 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| CHRNB3 | cholinergic receptor nicotinic beta 3 subunit | 8 | Rare Single Gene Mutation | 4 | 1 | ||
| CLN8 | Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) | 8 | Rare Single Gene Mutation, Syndromic | 4 | 3 | ||
| CLTCL1 | clathrin, heavy chain-like 1 | 22 | Rare Single Gene Mutation | 4 | 5 | ||
| CMIP | c-Maf inducing protein | 16 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| CNGB3 | cyclic nucleotide gated channel beta 3 | 8 | Rare Single Gene Mutation | 4 | 2 | ||
| CNTNAP5 | contactin associated protein-like 5 | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 11 | ||
| COL28A1 | collagen type XXVIII alpha 1 chain | 7 | Rare Single Gene Mutation | 4 | 2 | ||
| CPT2 | carnitine palmitoyltransferase 2 | 1 | Rare Single Gene Mutation | 4 | 2 | ||
| CSMD1 | CUB and Sushi multiple domains 1 | 8 | Rare Single Gene Mutation, Genetic Association | 4 | 13 | ||
| CSNK1E | casein kinase 1 epsilon | 22 | Rare Single Gene Mutation, Functional | 4 | 5 | ||
| CTNNA3 | catenin (cadherin-associated protein), alpha 3 | 10 | Rare Single Gene Mutation, Genetic Association | 4 | 14 | ||
| CADPS | calcium dependent secretion activator | 3 | Genetic Association | 4 | 2 | ||
| CNTN3 | contactin 3 | 3 | Rare Single Gene Mutation | 4 | 5 | ||
| CNTNAP3 | contactin associated protein-like 3 | 9 | Rare Single Gene Mutation, Functional | 4 | 4 | ||
| CUX2 | cut like homeobox 2 | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| CX3CR1 | Chemokine (C-X3-C motif) receptor 1 | 3 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| CYLC2 | cylicin, basic protein of sperm head cytoskeleton 2 | 9 | Rare Single Gene Mutation | 4 | 3 | ||
| CYP11B1 | cytochrome P450, family 11, subfamily B, polypeptide 1 | 8 | Syndromic | 4 | 4 | ||
| DAGLA | diacylglycerol lipase alpha | 11 | Rare Single Gene Mutation, Functional | 4 | 4 | ||
| DDC | dopa decarboxylase | 7 | Genetic Association | 4 | 2 | ||
| DDX53 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 | X | Rare Single Gene Mutation | 4 | 3 | ||
| DIXDC1 | DIX domain containing 1 | 11 | Rare Single Gene Mutation, Functional | 4 | 4 | ||
| DLG1 | discs large MAGUK scaffold protein 1 | 3 | Rare Single Gene Mutation | 4 | 3 | ||
| DLGAP2 | discs, large (Drosophila) homolog-associated protein 2 | 8 | Rare Single Gene Mutation | 4 | 12 | ||
| DLX6 | distal-less homeobox 6 | 7 | Rare Single Gene Mutation | 4 | 9 | ||
| DMXL2 | Dmx-like 2 | 15 | Rare Single Gene Mutation | 4 | 6 | ||
| DNAH10 | Dynein, axonemal, heavy chain 10 | 12 | Rare Single Gene Mutation | 4 | 5 | ||
| DNAH17 | dynein axonemal heavy chain 17 | 17 | Rare Single Gene Mutation | 4 | 4 | ||
| DNAH3 | dynein axonemal heavy chain 3 | 16 | Rare Single Gene Mutation | 4 | 3 | ||
| DNER | Delta/notch-like EGF repeat containing | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| DOCK1 | Dedicator of cytokinesis 1 | 10 | Rare Single Gene Mutation | 4 | 2 | ||
| DOCK4 | Dedicator of cytokinesis 4 | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| DPP4 | Dipeptidyl-peptidase 4 | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| DPP6 | dipeptidyl-peptidase 6 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 23 | ||
| DPYD | dihydropyrimidine dehydrogenase | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 12 | ||
| DPYSL3 | dihydropyrimidinase like 3 | 5 | Rare Single Gene Mutation | 4 | 2 | ||
| DRD2 | Dopamine receptor D2 | 11 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| DRD3 | dopamine receptor D3 | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| DST | Dystonin | 6 | Rare Single Gene Mutation | 4 | 6 | ||
| DUSP15 | dual specificity phosphatase 15 | 20 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| DVL3 | Dishevelled segment polarity protein 3 | 3 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| DYDC1 | DPY30 domain containing 1 | 10 | 4 | 1 | |||
| DYDC2 | DPY30 domain containing 2 | 10 | 4 | 1 | |||
| DLGAP3 | DLG associated protein 3 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 10 | ||
| DLX2 | distal-less homeobox 2 | 2 | Genetic Association | 4 | 11 | ||
| DRD1 | Dopamine receptor D1 | 5 | Genetic Association, Functional | 4 | 4 | ||
| EIF3G | eukaryotic translation initiation factor 3 subunit G | 19 | Rare Single Gene Mutation | 4 | 3 | ||
| EIF4E | eukaryotic translation initiation factor 4E | 4 | Rare Single Gene Mutation, Genetic Association | 4 | 12 | ||
| ELAVL2 | ELAV like neuron-specific RNA binding protein 2 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 5 | ||
| EN2 | engrailed homolog 2 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 23 | ||
| EPC2 | Enhancer of polycomb homolog 2 (Drosophila) | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| EPHB2 | EPH receptor B2 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| EPPK1 | epiplakin 1 | 8 | Rare Single Gene Mutation | 4 | 3 | ||
| ERG | ERG, ETS transcription factor | 21 | Genetic Association | 4 | 1 | ||
| ERMN | ermin | 2 | Rare Single Gene Mutation | 4 | 1 | ||
| ESR2 | estrogen receptor 2 (ER beta) | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 8 | ||
| ESRRB | estrogen-related receptor beta | 14 | Rare Single Gene Mutation, Genetic Association | 4 | 7 | ||
| EXOC6B | exocyst complex component 6B | 2 | Rare Single Gene Mutation | 4 | 3 | ||
| EXT1 | Exostosin 1 | 8 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| FABP5 | fatty acid binding protein 5 (psoriasis-associated) | 8 | Rare Single Gene Mutation, Functional | 4 | 6 | ||
| FAM47A | family with sequence similarity 47 member A | X | Rare Single Gene Mutation | 4 | 1 | ||
| FAN1 | FANCD2/FANCI-associated nuclease 1 | 15 | Rare Single Gene Mutation | 4 | 1 | ||
| FAT1 | FAT atypical cadherin 1 | 4 | Rare Single Gene Mutation | 4 | 4 | ||
| FBXO33 | F-box protein 33 | 14 | Genetic Association | 4 | 3 | ||
| FBXO40 | F-box protein 40 | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| FCRL6 | Fc receptor like 6 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| FEZF2 | FEZ family zinc finger 2 | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| FGA | Fibrinogen alpha chain | 4 | Genetic Association | 4 | 1 | ||
| FHIT | fragile histidine triad gene | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 12 | ||
| ELOVL2 | ELOVL fatty acid elongase 2 | 6 | Genetic Association | 4 | 1 | ||
| EXOC3 | exocyst complex component 3 | 5 | Rare Single Gene Mutation | 4 | 1 | ||
| EXOC5 | exocyst complex component 5 | 14 | Rare Single Gene Mutation | 4 | 2 | ||
| EXOC6 | exocyst complex component 6 | 10 | Rare Single Gene Mutation | 4 | 1 | ||
| FBXO11 | F-box protein 11 | 2 | Rare Single Gene Mutation, Syndromic | 4 | S | 5 | |
| FRK | fyn-related kinase | 6 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 4 | S | 10 | |
| GABRA4 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | 4 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| GALNT13 | polypeptide N-acetylgalactosaminyltransferase 13 | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| GALNT14 | polypeptide N-acetylgalactosaminyltransferase 14 | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| GDA | guanine deaminase | 9 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| GLIS1 | GLIS family zinc finger 1 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| GLO1 | glyoxalase I | 6 | Genetic Association | 4 | 9 | ||
| GLRA2 | glycine receptor, alpha 2 | X | Rare Single Gene Mutation, Functional | 4 | 14 | ||
| GNAS | GNAS complex locus | 20 | Rare Single Gene Mutation | 4 | 8 | ||
| GNB1L | guanine nucleotide binding protein (G protein), beta polypeptide 1-like | 22 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| GPC6 | glypican 6 | 13 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| GPR37 | G protein-coupled receptor 37 | 7 | Rare Single Gene Mutation | 4 | 2 | ||
| GPR85 | G protein-coupled receptor 85 | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| GRID2 | glutamate receptor, ionotropic, delta 2 | 4 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 9 | ||
| GRIK4 | Glutamate receptor, ionotropic, kainate 4 | 11 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| GAS2 | Growth arrest-specific 2 | 11 | Genetic Association | 4 | 1 | ||
| GPD2 | glycerol-3-phosphate dehydrogenase 2 | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| GPX1 | glutathione peroxidase 1 | 3 | Genetic Association | 4 | 5 | ||
| GRID2IP | Grid2 interacting protein | 7 | Rare Single Gene Mutation | 4 | 3 | ||
| GRIK3 | glutamate ionotropic receptor kainate type subunit 3 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| GRM5 | Glutamate receptor, metabotropic 5 | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 6 | ||
| GRM7 | Glutamate receptor, metabotropic 7 | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 13 | ||
| GSTM1 | glutathione S-transferase M1 | 1 | Genetic Association | 4 | 3 | ||
| GTF2I | general transcription factor IIi | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| GUCY1A2 | guanylate cyclase 1 soluble subunit alpha 2 | 11 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| HDLBP | high density lipoprotein binding protein | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| HLA-A | major histocompatibility complex, class I, A | 6 | Genetic Association | 4 | 10 | ||
| HLA-B | Major histocompatibility complex, class I, B | 6 | Genetic Association | 4 | 5 | ||
| HLA-G | major histocompatibility complex, class I, G | 6 | Genetic Association | 4 | 4 | ||
| HOMER1 | Homer homolog 1 (Drosophila) | 5 | Rare Single Gene Mutation, Functional | 4 | 5 | ||
| HS3ST5 | heparan sulfate (glucosamine) 3-O-sulfotransferase 5 | 6 | Genetic Association | 4 | 7 | ||
| HSD11B1 | hydroxysteroid (11-beta) dehydrogenase 1 | 1 | Syndromic | 4 | 8 | ||
| HTR1B | 5-hydroxytryptamine (serotonin) receptor 1B | 6 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| HTR3A | 5-hydroxytryptamine (serotonin) receptor 3A | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 7 | ||
| HTR3C | 5-hydroxytryptamine (serotonin) receptor 3, family member C | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| HYDIN | HYDIN, axonemal central pair apparatus protein | 16 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | 6 | Genetic Association | 4 | 11 | ||
| IL1R2 | interleukin 1 receptor, type II | 2 | Rare Single Gene Mutation | 4 | 6 | ||
| IL1RAPL1 | interleukin 1 receptor accessory protein-like 1 | X | Rare Single Gene Mutation | 4 | 22 | ||
| IL1RAPL2 | interleukin 1 receptor accessory protein-like 2 | X | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| IMMP2L | IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 13 | ||
| INPP1 | inositol polyphosphate-1-phosphatase | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| IQGAP3 | IQ motif containing GTPase activating protein 3 | 1 | Rare Single Gene Mutation | 4 | 3 | ||
| ITPR1 | inositol 1,4,5-trisphosphate receptor type 1 | 3 | Rare Single Gene Mutation | 4 | 9 | ||
| JMJD1C | jumonji domain containing 1C | 10 | Rare Single Gene Mutation | 4 | 8 | ||
| KANK1 | KN motif and ankyrin repeat domains 1 | 9 | Rare Single Gene Mutation | 4 | 8 | ||
| KATNAL1 | katanin catalytic subunit A1 like 1 | 13 | Rare Single Gene Mutation, Functional | 4 | 2 | ||
| KCND2 | potassium voltage-gated channel subfamily D member 2 | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| KCND3 | potassium voltage-gated channel subfamily D member 3 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 8 | ||
| KCNK7 | potassium two pore domain channel subfamily K member 7 | 11 | Rare Single Gene Mutation | 4 | 1 | ||
| KCNMA1 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 | 10 | Rare Single Gene Mutation | 4 | 18 | ||
| KCTD13 | Potassium channel tetramerisation domain containing 13 | 16 | Rare Single Gene Mutation | 4 | 6 | ||
| KDM4B | lysine demethylase 4B | 19 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| KHDRBS2 | KH domain containing, RNA binding, signal transduction associated 2 | 6 | Rare Single Gene Mutation | 4 | 2 | ||
| KIF13B | Kinesin family member 13B | 8 | Rare Single Gene Mutation | 4 | 3 | ||
| KIF5C | Kinesin family member 5C | 2 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| KLF16 | Kruppel like factor 16 | 19 | Rare Single Gene Mutation | 4 | 1 | ||
| KCNC1 | potassium voltage-gated channel subfamily C member 1 | 11 | Rare Single Gene Mutation | 4 | 4 | ||
| KCNJ15 | potassium voltage-gated channel subfamily J member 15 | 21 | Rare Single Gene Mutation | 4 | 2 | ||
| KRR1 | KRR1, small subunit (SSU) processome component, homolog (yeast) | 12 | Genetic Association | 4 | 1 | ||
| KRT26 | keratin 26 | 17 | Rare Single Gene Mutation | 4 | 2 | ||
| LAMA1 | Laminin, alpha 1 | 18 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| LEP | Leptin | 7 | Rare Single Gene Mutation | 4 | 1 | ||
| LILRB2 | leukocyte immunoglobulin like receptor B2 | 19 | Rare Single Gene Mutation | 4 | 2 | ||
| LIN7B | lin-7 homolog B, crumbs cell polarity complex component | 19 | 4 | 1 | |||
| LRBA | LPS-responsive vesicle trafficking, beach and anchor containing | 4 | Rare Single Gene Mutation | 4 | 5 | ||
| LRFN2 | leucine rich repeat and fibronectin type III domain containing 2 | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 4 | ||
| LRFN5 | leucine rich repeat and fibronectin type III domain containing 5 | 14 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| LRP2 | LDL receptor related protein 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 11 | ||
| LRRC1 | leucine rich repeat containing 1 | 6 | Genetic Association | 4 | 5 | ||
| LZTS2 | leucine zipper, putative tumor suppressor 2 | 10 | Genetic Association | 4 | 4 | ||
| MAOA | monoamine oxidase A | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 4 | 15 | ||
| MAPK3 | mitogen-activated protein kinase 3 | 16 | Rare Single Gene Mutation, Functional | 4 | 4 | ||
| MARK1 | microtubule affinity regulating kinase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 10 | ||
| MBD1 | methyl-CpG binding domain protein 1 | 18 | Rare Single Gene Mutation | 4 | 7 | ||
| MBD3 | methyl-CpG binding domain protein 3 | 19 | Rare Single Gene Mutation | 4 | 4 | ||
| MBD4 | methyl-CpG binding domain protein 4 | 3 | Rare Single Gene Mutation | 4 | 6 | ||
| MBD6 | Methyl-CpG binding domain protein 6 | 12 | Rare Single Gene Mutation | 4 | 1 | ||
| MCM4 | minichromosome maintenance complex component 4 | 8 | Rare Single Gene Mutation | 4 | 2 | ||
| MCM6 | minichromosome maintenance complex component 6 | 2 | Rare Single Gene Mutation | 4 | 2 | ||
| MCPH1 | microcephalin 1 | 8 | Rare Single Gene Mutation | 4 | 15 | ||
| MDGA2 | MAM domain containing glycosylphosphatidylinositol anchor 2 | 14 | Rare Single Gene Mutation, Genetic Association | 4 | 7 | ||
| MEGF10 | multiple EGF like domains 10 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| MEGF11 | multiple EGF like domains 11 | 15 | Rare Single Gene Mutation | 4 | 4 | ||
| MIB1 | Mindbomb E3 ubiquitin protein ligase 1 | 18 | Rare Single Gene Mutation | 4 | 5 | ||
| LRRC4 | leucine rich repeat containing 4 | 7 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| MAOB | monoamine oxidase B | X | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 5 | ||
| MKL2 | MKL/myocardin-like 2 | 16 | Rare Single Gene Mutation, Genetic Association | 4 | 10 | ||
| MPP6 | membrane palmitoylated protein 6 | 7 | Rare Single Gene Mutation | 4 | 3 | ||
| MSANTD2 | Myb/SANT DNA binding domain containing 2 | 11 | Rare Single Gene Mutation | 4 | 1 | ||
| MSR1 | macrophage scavenger receptor 1 | 8 | Rare Single Gene Mutation | 4 | 3 | ||
| MTF1 | metal-regulatory transcription factor 1 | 1 | Syndromic, Genetic Association | 4 | 4 | ||
| MTHFR | methylenetetrahydrofolate reductase (NAD(P)H) | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 16 | ||
| MUC12 | mucin 12, cell surface associated | 7 | Rare Single Gene Mutation | 4 | 2 | ||
| MUC4 | mucin 4, cell surface associated | 3 | Rare Single Gene Mutation | 4 | 5 | ||
| MYH4 | Myosin, heavy chain 4, skeletal muscle | 17 | Rare Single Gene Mutation | 4 | 3 | ||
| MYO16 | myosin XVI | 13 | Rare Single Gene Mutation, Genetic Association | 4 | 7 | ||
| MYO1E | myosin IE | 15 | Rare Single Gene Mutation | 4 | 3 | ||
| MYO5C | myosin VC | 15 | Rare Single Gene Mutation | 4 | 2 | ||
| NACC1 | nucleus accumbens associated 1 | 19 | Rare Single Gene Mutation, Syndromic | 4 | S | 4 | |
| NCKAP5 | NCK-associated protein 5 | 2 | Rare Single Gene Mutation | 4 | 1 | ||
| NEO1 | Neogenin 1 | 15 | 4 | 1 | |||
| NFIA | nuclear factor I/A | 1 | Rare Single Gene Mutation | 4 | 10 | ||
| NIPA1 | non imprinted in Prader-Willi/Angelman syndrome 1 | 15 | Rare Single Gene Mutation | 4 | 5 | ||
| NIPA2 | non imprinted in Prader-Willi/Angelman syndrome 2 | 15 | Rare Single Gene Mutation | 4 | 2 | ||
| NR1D1 | nuclear receptor subfamily 1 group D member 1 | 17 | Rare Single Gene Mutation | 4 | 3 | ||
| NR2F1 | nuclear receptor subfamily 2 group F member 1 | 5 | Rare Single Gene Mutation, Syndromic | 4 | S | 11 | |
| NRCAM | neuronal cell adhesion molecule | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| NRP2 | neuropilin 2 | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| MNT | MAX network transcriptional repressor | 17 | Genetic Association | 4 | 1 | ||
| NAALADL2 | N-acetylated alpha-linked acidic dipeptidase-like 2 | 3 | Genetic Association | 4 | 1 | ||
| NDUFA5 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa | 7 | Genetic Association | 4 | 3 | ||
| NEGR1 | neuronal growth regulator 1 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 6 | ||
| NFIB | nuclear factor I B | 9 | Rare Single Gene Mutation, Syndromic | 4 | S | 4 | |
| NLGN4Y | neuroligin 4, Y-linked | Y | Genetic Association | 4 | 3 | ||
| NOTCH2NL | notch 2 N-terminal like | 1 | Functional | 4 | 1 | ||
| NPAS2 | neuronal PAS domain protein 2 | 2 | Genetic Association | 4 | 4 | ||
| NTNG1 | netrin G1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | S | 8 | |
| NTRK1 | neurotrophic tyrosine kinase, receptor, type 1 | 1 | Rare Single Gene Mutation, Syndromic | 4 | 8 | ||
| NTRK3 | neurotrophic tyrosine kinase, receptor, type 3 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 13 | ||
| NSMCE3 | NSE3 homolog, SMC5-SMC6 complex component | 15 | Functional | 4 | 3 | ||
| NUP133 | nucleoporin 133kDa | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| NXPH1 | neurexophilin 1 | 7 | Rare Single Gene Mutation | 4 | 5 | ||
| ODF3L2 | outer dense fiber of sperm tails 3-like 2 | 19 | Rare Single Gene Mutation | 4 | 1 | ||
| OFD1 | OFD1, centriole and centriolar satellite protein | X | Rare Single Gene Mutation | 4 | 2 | ||
| OR1C1 | olfactory receptor, family 1, subfamily C, member 1 | 1 | Rare Single Gene Mutation | 4 | 2 | ||
| OR2M4 | Olfactory receptor, family 2, subfamily M, member 4 | 1 | Genetic Association | 4 | 1 | ||
| OR2T10 | olfactory receptor family 2 subfamily T member 10 | 1 | Rare Single Gene Mutation | 4 | 3 | ||
| OTX1 | Orthodenticle homeobox 1 | 2 | Genetic Association | 4 | 3 | ||
| OXT | oxytocin/neurophysin I prepropeptide | 20 | Genetic Association | 4 | 4 | ||
| PAPOLG | poly(A) polymerase gamma | 2 | Rare Single Gene Mutation | 4 | 3 | ||
| PBX1 | PBX homeobox 1 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| PCDH10 | protocadherin 10 | 4 | Rare Single Gene Mutation | 4 | 8 | ||
| PCDH11X | protocadherin 11 X-linked | X | Rare Single Gene Mutation | 4 | 2 | ||
| PCDH15 | protocadherin related 15 | 10 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PCDH9 | protocadherin 9 | 13 | Rare Single Gene Mutation, Genetic Association | 4 | 7 | ||
| PCDHA1 | Protocadherin alpha 1 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PCDHA10 | Protocadherin alpha 10 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PCDHA11 | Protocadherin alpha 11 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PCDHA12 | Protocadherin alpha 12 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PCDHA13 | Protocadherin alpha 13 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PCDHA2 | Protocadherin alpha 2 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PATJ | PATJ, crumbs cell polarity complex component | 1 | Rare Single Gene Mutation | 4 | 2 | ||
| PCDHA3 | Protocadherin alpha 3 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PCDHA4 | Protocadherin alpha 4 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PCDHA5 | Protocadherin alpha 5 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| PCDHA6 | Protocadherin alpha 6 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PCDHA7 | Protocadherin alpha 7 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PCDHA8 | Protocadherin alpha 8 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PCDHA9 | Protocadherin alpha 9 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PDCD1 | programmed cell death 1 | 2 | Rare Single Gene Mutation | 4 | 3 | ||
| PER1 | period homolog 1 (Drosophila) | 17 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| PITX1 | paired-like homeodomain 1 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| PLN | phospholamban | 6 | Rare Single Gene Mutation | 4 | 4 | ||
| PLXNA3 | plexin A3 | X | Rare Single Gene Mutation | 4 | 2 | ||
| PNPLA7 | patatin like phospholipase domain containing 7 | 9 | Rare Single Gene Mutation | 4 | 3 | ||
| POLA2 | DNA polymerase alpha 2, accessory subunit | 11 | Rare Single Gene Mutation | 4 | 2 | ||
| POMT1 | protein O-mannosyltransferase 1 | 9 | Rare Single Gene Mutation | 4 | 2 | ||
| POT1 | Protection of telomeres 1 homolog (S. pombe) | 7 | Rare Single Gene Mutation | 4 | 1 | ||
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17 | Rare Single Gene Mutation, Syndromic | 4 | S | 6 | |
| PPP2R1B | protein phosphatase 2 regulatory subunit A, beta | 11 | Rare Single Gene Mutation | 4 | 5 | ||
| PRKDC | protein kinase, DNA-activated, catalytic polypeptide | 8 | Rare Single Gene Mutation, Syndromic, Functional | 4 | 5 | ||
| PRPF39 | pre-mRNA processing factor 39 | 14 | Rare Single Gene Mutation | 4 | 3 | ||
| PRUNE2 | prune homolog 2 | 9 | Rare Single Gene Mutation, Syndromic | 4 | 6 | ||
| PSD3 | pleckstrin and Sec7 domain containing 3 | 8 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| PTBP2 | polypyrimidine tract binding protein 2 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PTPRB | protein tyrosine phosphatase, receptor type B | 12 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| QRICH1 | glutamine rich 1 | 3 | Rare Single Gene Mutation | 4 | 3 | ||
| RAB11FIP5 | RAB11 family interacting protein 5 | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| RAB39B | RAB39B, member RAS oncogene family | X | Rare Single Gene Mutation | 4 | 10 | ||
| RAD21L1 | RAD21 cohesin complex component like 1 | 20 | Rare Single Gene Mutation | 4 | 2 | ||
| PDE1C | phosphodiesterase 1C | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PDK2 | pyruvate dehydrogenase kinase 2 | 17 | Rare Single Gene Mutation | 4 | 4 | ||
| PEX7 | peroxisomal biogenesis factor 7 | 6 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| RAPGEF4 | Rap guanine nucleotide exchange factor (GEF) 4 | 2 | Rare Single Gene Mutation | 4 | 16 | ||
| REEP3 | receptor accessory protein 3 | 10 | Rare Single Gene Mutation | 4 | 3 | ||
| PCDHAC1 | Protocadherin alpha subfamily C, 1 | 5 | Genetic Association | 4 | 2 | ||
| PCDHAC2 | Protocadherin alpha subfamily C, 2 | 5 | Genetic Association | 4 | 3 | ||
| PIK3CG | phosphoinositide-3-kinase, catalytic, gamma polypeptide | 7 | Genetic Association | 4 | 4 | ||
| PLAUR | Plasminogen activator, urokinase receptor | 19 | Genetic Association | 4 | 1 | ||
| PPFIA1 | PTPRF interacting protein alpha 1 | 11 | Rare Single Gene Mutation | 4 | 3 | ||
| PPP1R1B | Protein phosphatase 1, regulatory (inhibitor) subunit 1B | 17 | Genetic Association | 4 | 1 | ||
| PRKCA | protein kinase C alpha | 17 | Rare Single Gene Mutation | 4 | 4 | ||
| PTGS2 | prostaglandin-endoperoxide synthase 2 | 1 | Genetic Association, Functional | 4 | 6 | ||
| PTPRC | protein tyrosine phosphatase, receptor type, C | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| PTPRT | protein tyrosine phosphatase, receptor type, T | 20 | Rare Single Gene Mutation, Functional | 4 | 9 | ||
| PXDN | peroxidasin | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| RASSF5 | Ras association domain family member 5 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| RGS7 | regulator of G-protein signaling 7 | 1 | Rare Single Gene Mutation | 4 | 6 | ||
| RHOXF1 | Rhox homeobox family, member 1 | X | Genetic Association | 4 | 3 | ||
| RIMS3 | regulating synaptic membrane exocytosis 3 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| RIT2 | Ras-like without CAAX 2 | 18 | Genetic Association | 4 | 3 | ||
| RNF135 | Ring finger protein 135 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | S | 3 | |
| RNF38 | ring finger protein 38 | 9 | Rare Single Gene Mutation | 4 | 2 | ||
| RPL10 | ribosomal protein L10 | X | Rare Single Gene Mutation, Syndromic | 4 | 13 | ||
| RPS6KA2 | ribosomal protein S6 kinase, 90kDa, polypeptide 2 | 6 | Rare Single Gene Mutation | 4 | 4 | ||
| RPS6KA3 | Ribosomal protein S6 kinase, 90kDa, polypeptide 3 | X | Rare Single Gene Mutation, Syndromic | 4 | S | 9 | |
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | S | 26 | |
| SCFD2 | sec1 family domain containing 2 | 4 | Rare Single Gene Mutation | 4 | 2 | ||
| RP11-1407O15.2 | 17 | Rare Single Gene Mutation | 4 | 1 | |||
| SAMD11 | sterile alpha motif domain containing 11 | 1 | Rare Single Gene Mutation | 4 | 2 | ||
| SASH1 | SAM and SH3 domain containing 1 | 6 | Rare Single Gene Mutation | 4 | 2 | ||
| SCN4A | Sodium channel, voltage gated, type IV alpha subunit | 17 | Rare Single Gene Mutation | 4 | 4 | ||
| SCP2 | sterol carrier protein 2 | 1 | Rare Single Gene Mutation | 4 | 2 | ||
| SDC2 | syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) | 8 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| SETD1B | SET domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 6 | |
| SETDB1 | SET domain, bifurcated 1 | 1 | Rare Single Gene Mutation | 4 | 3 | ||
| SETDB2 | SET domain, bifurcated 2 | 13 | Rare Single Gene Mutation, Syndromic | 4 | 2 | ||
| SEZ6L2 | SEZ6L2 seizure related 6 homolog (mouse)-like 2 | 16 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| SGSM3 | Small G protein signaling modulator 3 | 22 | Rare Single Gene Mutation | 4 | 4 | ||
| SLC1A1 | solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 | 9 | Rare Single Gene Mutation, Genetic Association | 4 | 11 | ||
| SF3B1 | splicing factor 3b subunit 1 | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| SLC22A15 | Solute carrier family 22, member 15 | 1 | Genetic Association | 4 | 1 | ||
| SLC22A9 | solute carrier family 22 member 9 | 11 | Rare Single Gene Mutation | 4 | 3 | ||
| SLC24A2 | solute carrier family 24 member 2 | 9 | Rare Single Gene Mutation | 4 | 3 | ||
| SLC25A12 | solute carrier family 25 (mitochondrial carrier, Aralar), member 12 | 2 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 20 | ||
| SLC25A27 | solute carrier family 25 member 27 | 6 | Genetic Association | 4 | 1 | ||
| SLC25A39 | solute carrier family 25 member 39 | 17 | Rare Single Gene Mutation | 4 | 3 | ||
| SLC27A4 | Solute carrier family 27 (fatty acid transporter), member 4 | 9 | Rare Single Gene Mutation | 4 | 1 | ||
| SLC29A4 | solute carrier family 29 member 4 | 7 | Rare Single Gene Mutation | 4 | 1 | ||
| SLC4A10 | solute carrier family 4, sodium bicarbonate transporter-like, member 10 | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| SLC6A4 | solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 | 17 | Rare Single Gene Mutation, Genetic Association | 4 | 26 | ||
| SLC6A8 | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 | X | Rare Single Gene Mutation, Syndromic | 4 | 12 | ||
| SLC7A7 | solute carrier family 7 member 7 | 14 | Rare Single Gene Mutation | 4 | 2 | ||
| SLC9A9 | solute carrier family 9 (sodium/hydrogen exchanger), member 9 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 12 | ||
| SLCO1B3 | Solute carrier organic anion transporter family, member 1B3 | 12 | Rare Single Gene Mutation | 4 | 2 | ||
| SMC3 | structural maintenance of chromosomes 3 | 10 | Rare Single Gene Mutation, Syndromic | 4 | S | 8 | |
| SMG6 | SMG6, nonsense mediated mRNA decay factor | 17 | Rare Single Gene Mutation | 4 | 2 | ||
| SNAP25 | Synaptosomal-associated protein, 25kDa | 20 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| SND1 | staphylococcal nuclease and tudor domain containing 1 | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| SNTG2 | syntrophin gamma 2 | 2 | Rare Single Gene Mutation | 4 | 5 | ||
| SOD1 | superoxide dismutase 1 | 21 | Genetic Association, Functional | 4 | 2 | ||
| SPP2 | secreted phosphoprotein 2 | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| SRGAP3 | SLIT-ROBO Rho GTPase activating protein 3 | 3 | Rare Single Gene Mutation | 4 | 4 | ||
| SSPO | SCO-spondin | 7 | Rare Single Gene Mutation | 4 | 3 | ||
| SSRP1 | structure specific recognition protein 1 | 11 | Rare Single Gene Mutation | 4 | 2 | ||
| ST7 | suppression of tumorigenicity 7 | 7 | Rare Single Gene Mutation | 4 | 4 | ||
| STK39 | serine threonine kinase 39 (STE20/SPS1 homolog, yeast) | 2 | Genetic Association | 4 | 5 | ||
| STX1A | Syntaxin 1A (brain) | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| STYK1 | Serine/threonine/tyrosine kinase 1 | 12 | Genetic Association | 4 | 1 | ||
| SYAP1 | Synapse associated protein 1 | X | Rare Single Gene Mutation | 4 | 2 | ||
| SYN1 | Synapsin 1 | X | Rare Single Gene Mutation, Functional | 4 | 18 | ||
| SYN2 | Synapsin II | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 6 | ||
| SYNE1 | spectrin repeat containing, nuclear envelope 1 | 6 | Rare Single Gene Mutation, Genetic Association | 4 | S | 15 | |
| SYNJ1 | synaptojanin 1 | 21 | Rare Single Gene Mutation | 4 | 1 | ||
| SYT17 | synaptotagmin XVII | 16 | Genetic Association | 4 | 2 | ||
| TAF1C | TATA-box binding protein associated factor, RNA polymerase I subunit C | 16 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| TBC1D5 | TBC1 domain family, member 5 | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 7 | ||
| TBL1X | transducin (beta)-like 1X-linked | X | Genetic Association | 4 | 1 | ||
| SERPINE1 | serpin family E member 1 | 7 | Genetic Association | 4 | 2 | ||
| SYNCRIP | synaptotagmin binding cytoplasmic RNA interacting protein | 6 | Rare Single Gene Mutation | 4 | 6 | ||
| TBX1 | T-box 1 | 22 | Syndromic, Functional | 4 | 5 | ||
| TDO2 | tryptophan 2,3-dioxygenase | 4 | Genetic Association | 4 | 4 | ||
| TECTA | tectorin alpha | 11 | Rare Single Gene Mutation | 4 | 6 | ||
| TERB2 | telomere repeat binding bouquet formation protein 2 | 15 | Rare Single Gene Mutation | 4 | 1 | ||
| THBS1 | Thrombospondin 1 | 15 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| TM4SF19 | transmembrane 4 L six family member 19 | 3 | Rare Single Gene Mutation | 4 | 3 | ||
| TOP3B | Topoisomerase (DNA) III beta | 22 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 6 | ||
| TPO | Thyroid peroxidase | 2 | Genetic Association | 4 | 1 | ||
| TRIM33 | Tripartite motif containing 33 | 1 | Genetic Association | 4 | 1 | ||
| TSPAN17 | tetraspanin 17 | 5 | Rare Single Gene Mutation | 4 | 3 | ||
| TSPAN7 | tetraspanin 7 | X | Rare Single Gene Mutation | 4 | 7 | ||
| TTC25 | tetratricopeptide repeat domain 25 | 17 | Genetic Association | 4 | 1 | ||
| TSPOAP1 | TSPO associated protein 1 | 17 | Rare Single Gene Mutation | 4 | 5 | ||
| TTN | titin | 2 | Rare Single Gene Mutation, Syndromic | 4 | S | 18 | |
| TUBGCP5 | tubulin, gamma complex associated protein 5 | 15 | Rare Single Gene Mutation | 4 | 4 | ||
| UBE2H | ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) | 7 | Genetic Association | 4 | 2 | ||
| UNC13A | unc-13 homolog A | 19 | Rare Single Gene Mutation, Syndromic | 4 | S | 5 | |
| UNC80 | unc-80 homolog, NALCN activator | 2 | Rare Single Gene Mutation | 4 | 5 | ||
| THRA | thyroid hormone receptor alpha | 17 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| TRAF7 | TNF receptor associated factor 7 | 16 | Rare Single Gene Mutation, Syndromic | 4 | S | 3 | |
| TRRAP | transformation/transcription domain associated protein | 7 | Rare Single Gene Mutation, Syndromic | 4 | S | 8 | |
| USH2A | usherin | 1 | Rare Single Gene Mutation | 4 | 3 | ||
| USP9Y | ubiquitin specific peptidase 9, Y-linked | Y | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| VASH1 | vasohibin 1 | 14 | Genetic Association | 4 | 4 | ||
| VSIG4 | V-set and immunoglobulin domain containing 4 | X | Rare Single Gene Mutation | 4 | 2 | ||
| WNK3 | WNK lysine deficient protein kinase 3 | X | Rare Single Gene Mutation | 4 | 6 | ||
| WNT1 | Wingless-type MMTV integration site family, member 1 | 12 | Genetic Association | 4 | 3 | ||
| XPO1 | Exportin 1 (CRM1 homolog, yeast) | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| YTHDC2 | YTH domain containing 2 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 5 | ||
| YWHAE | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 17 | Rare Single Gene Mutation | 4 | 5 | ||
| ZBTB16 | Zinc finger and BTB domain containing 16 | 11 | Genetic Association | 4 | 1 | ||
| ZNF18 | zinc finger protein 18 | 17 | Rare Single Gene Mutation | 4 | 1 | ||
| ZNF385B | Zinc finger protein 385B | 2 | Genetic Association | 4 | 2 | ||
| ZNF517 | Zinc finger protein 517 | 8 | Rare Single Gene Mutation | 4 | 2 | ||
| ZNF548 | zinc finger protein 548 | 19 | Rare Single Gene Mutation | 4 | 2 | ||
| ZNF559 | Zinc finger protein 559 | 19 | Rare Single Gene Mutation | 4 | 3 | ||
| ZNF626 | zinc finger protein 626 | 19 | Rare Single Gene Mutation | 4 | 2 | ||
| ZNF713 | Zinc finger protein 713 | 7 | Rare Single Gene Mutation | 4 | 1 | ||
| ZNF774 | Zinc finger protein 774 | 15 | Rare Single Gene Mutation | 4 | 2 | ||
| VDR | vitamin D receptor | 12 | Genetic Association, Functional | 4 | 7 | ||
| YEATS2 | YEATS domain containing 2 | 3 | Genetic Association | 4 | 1 | ||
| ZNF827 | Zinc finger protein 827 | 4 | Genetic Association | 4 | 1 | ||
| ZWILCH | zwilchkinetochore protein | 15 | Rare Single Gene Mutation | 4 | 3 |
5 Category 5 [175 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ADARB1 | Adenosine deaminase, RNA-specific, B1 | 21 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| APC | adenomatosis polyposis coli | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 9 | ||
| ARHGAP24 | Rho GTPase activating protein 24 | 4 | Rare Single Gene Mutation | 5 | 1 | ||
| ARHGAP33 | Rho GTPase activating protein 33 | 19 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| ADAMTS18 | ADAM metallopeptidase with thrombospondin type 1 motif 18 | 16 | Rare Single Gene Mutation, Syndromic | 5 | 4 | ||
| ALOX5AP | arachidonate 5-lipoxygenase-activating protein | 3 | Functional | 5 | 4 | ||
| AMBRA1 | autophagy and beclin 1 regulator 1 | 11 | Functional | 5 | 3 | ||
| APP | Amyloid beta (A4) precursor protein | 21 | Functional | 5 | 3 | ||
| ASS1 | argininosuccinate synthetase | 9 | Functional | 5 | 3 | ||
| ATG7 | Autophagy related 7 | 3 | Functional | 5 | 3 | ||
| ATP8A1 | ATPase phospholipid transporting 8A1 | 4 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| ATRNL1 | Attractin-like 1 | 10 | Rare Single Gene Mutation | 5 | 2 | ||
| ATXN7 | Ataxin 7 | 3 | Rare Single Gene Mutation | 5 | 1 | ||
| AVP | Arginine vasopressin | 20 | Genetic Association, Functional | 5 | 4 | ||
| BAIAP2 | BAI1-associated protein 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 10 | ||
| BDNF | Brain-derived neurotrophic factor | 11 | Rare Single Gene Mutation, Functional | 5 | 11 | ||
| BRINP1 | BMP/retinoic acid inducible neural specific 1 | 9 | Functional | 5 | 2 | ||
| CAMSAP2 | calmodulin regulated spectrin-associated protein family, member 2 | 1 | Rare Single Gene Mutation | 5 | 1 | ||
| CAMTA1 | calmodulin binding transcription activator 1 | 1 | Rare Single Gene Mutation | 5 | 8 | ||
| CD44 | CD44 molecule (Indian blood group) | 11 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CDKN1B | cyclin dependent kinase inhibitor 1B | 12 | 5 | 1 | |||
| CHD5 | chromodomain helicase DNA binding protein 5 | 1 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CBLN1 | cerebellin 1 precursor | 16 | Genetic Association, Functional | 5 | 6 | ||
| CLSTN2 | calsyntenin 2 | 3 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CLSTN3 | Calsyntenin 3 | 12 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| CNR2 | Cannabinoid receptor 2 (macrophage) | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 4 | ||
| CRHR2 | corticotropin releasing hormone receptor 2 | 7 | Functional | 5 | 3 | ||
| CXCR3 | chemokine (C-X-C motif) receptor 3 | X | Rare Single Gene Mutation | 5 | 8 | ||
| DAB1 | disabled homolog 1 (Drosophila) | 1 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| DAPK1 | death-associated protein kinase 1 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 5 | ||
| DCTN5 | dynactin 5 | 16 | Rare Single Gene Mutation | 5 | 3 | ||
| DCUN1D1 | DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) | 3 | Functional | 5 | 3 | ||
| DDX11 | DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 | 12 | Functional | 5 | 3 | ||
| DIAPH3 | Diaphanous-related formin 3 | 13 | Rare Single Gene Mutation, Genetic Association | 5 | 11 | ||
| DNM1L | Dynamin 1-like | 12 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| DOCK10 | Dedicator of cytokinesis 10 | 2 | Rare Single Gene Mutation | 5 | 1 | ||
| DGKK | diacylglycerol kinase kappa | X | Functional | 5 | 1 | ||
| DGKZ | diacylglycerol kinase zeta | 11 | Rare Single Gene Mutation | 5 | 2 | ||
| DLX1 | distal-less homeobox 1 | 2 | Genetic Association | 5 | 8 | ||
| DNAJC19 | DnaJ heat shock protein family (Hsp40) member C19 | 3 | Functional | 5 | 1 | ||
| DVL1 | Dishevelled segment polarity protein 1 | 1 | Functional | 5 | 3 | ||
| EGR2 | early growth response 2 (Krox-20 homolog, Drosophila) | 10 | Functional | 5 | 4 | ||
| EIF4EBP2 | Eukaryotic translation initiation factor 4E binding protein 2 | 10 | Functional | 5 | 1 | ||
| EML1 | echinoderm microtubule associated protein like 1 | 14 | Rare Single Gene Mutation | 5 | 2 | ||
| EPHA6 | EPH receptor A6 | 3 | Rare Single Gene Mutation | 5 | 6 | ||
| EPHB6 | EPH receptor B6 | 7 | Rare Single Gene Mutation | 5 | 5 | ||
| EPS8 | epidermal growth factor receptor pathway substrate 8 | 12 | Functional | 5 | 1 | ||
| ERBB4 | v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) | 2 | Rare Single Gene Mutation | 5 | 15 | ||
| ESR1 | estrogen receptor 1 | 6 | Syndromic, Genetic Association | 5 | 10 | ||
| F13A1 | coagulation factor XIII, A1 polypeptide | 6 | Rare Single Gene Mutation, Functional | 5 | 6 | ||
| FABP3 | Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) | 1 | Functional | 5 | 2 | ||
| FAM19A2 | family with sequence similarity 19 member A2, C-C motif chemokine like | 12 | Functional | 5 | 1 | ||
| FAM19A3 | family with sequence similarity 19 member A3, C-C motif chemokine like | 1 | Functional | 5 | 2 | ||
| FGD1 | FYVE, RhoGEF and PH domain containing 1 | X | Rare Single Gene Mutation, Syndromic | 5 | 3 | ||
| FGFBP3 | fibroblast growth factor binding protein 3 | 10 | Rare Single Gene Mutation | 5 | 1 | ||
| FLT1 | fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor) | 13 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| DLGAP4 | DLG associated protein 4 | 20 | Functional | 5 | 2 | ||
| FGFR2 | fibroblast growth factor receptor 2 | 10 | Functional | 5 | 1 | ||
| GABRA1 | Gamma-aminobutyric acid (GABA) A receptor, alpha 1 | 5 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| GABRA5 | gamma-aminobutyric acid type A receptor alpha5 subunit | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 9 | ||
| GABRB1 | gamma-aminobutyric acid (GABA) A receptor, beta 1 | 4 | Rare Single Gene Mutation, Genetic Association | 5 | 6 | ||
| GABRQ | Gamma-aminobutyric acid (GABA) A receptor, theta | X | Rare Single Gene Mutation | 5 | 1 | ||
| GAD1 | Glutamate decarboxylase 1 (brain, 67kDa) | 2 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| GADD45B | Growth arrest and DNA-damage-inducible, beta | 19 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| GAN | Gigaxonin | 16 | Rare Single Gene Mutation | 5 | 1 | ||
| GPR139 | G protein-coupled receptor 139 | 16 | Rare Single Gene Mutation | 5 | 5 | ||
| FOLH1 | folate hydrolase 1 | 11 | Functional | 5 | 2 | ||
| GAP43 | Growth associated protein 43 | 3 | Functional | 5 | 1 | ||
| GRPR | Gastrin-releasing peptide receptor | X | Rare Single Gene Mutation, Genetic Association | 5 | 8 | ||
| GSK3B | Glycogen synthase kinase 3 beta | 3 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| GRM4 | Glutamate receptor, metabotropic 4 | 6 | Functional | 5 | 1 | ||
| H2AFZ | H2A histone family member Z | 4 | Genetic Association, Functional | 5 | 3 | ||
| HDAC3 | histone deacetylase 3 | 5 | Rare Single Gene Mutation, Functional | 5 | 6 | ||
| HDC | histidine decarboxylase | 15 | Rare Single Gene Mutation, Functional | 5 | 6 | ||
| HOXB1 | homeobox B1 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 8 | ||
| HTR2A | 5-hydroxytryptamine (serotonin) receptor 2A | 13 | Rare Single Gene Mutation, Genetic Association | 5 | 9 | ||
| HDAC6 | histone deacetylase 6 | X | Rare Single Gene Mutation | 5 | 6 | ||
| IFNG | interferon gamma | 12 | Functional | 5 | 13 | ||
| IFNGR1 | interferon gamma receptor 1 | 6 | Functional | 5 | 1 | ||
| IL17A | Interleukin 17A | 6 | Functional | 5 | 1 | ||
| IL17RA | interleukin 17 receptor A | 22 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| IL6 | interleukin 6 | 7 | Functional | 5 | 6 | ||
| ITGB7 | integrin, beta 7 | 12 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| JAKMIP1 | Janus kinase and microtubule interacting protein 1 | 4 | Rare Single Gene Mutation, Functional | 5 | 8 | ||
| KCNJ2 | Potassium inwardly-rectifying channel, subfamily J, member 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 3 | ||
| KCNT1 | potassium sodium-activated channel subfamily T member 1 | 9 | Rare Single Gene Mutation, Syndromic | 5 | 11 | ||
| KIF21B | kinesin family member 21B | 1 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| KLC2 | Kinesin light chain 2 | 11 | Rare Single Gene Mutation | 5 | 2 | ||
| ITGA4 | integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) | 2 | Genetic Association | 5 | 5 | ||
| KHDRBS3 | KH RNA binding domain containing, signal transduction associated 3 | 8 | Functional | 5 | 2 | ||
| KIT | KIT proto-oncogene receptor tyrosine kinase | 4 | Syndromic | 5 | 1 | ||
| LAMC3 | laminin, gamma 3 | 9 | Rare Single Gene Mutation | 5 | 9 | ||
| LAT | linker for activation of T-cells | 16 | Functional | 5 | 2 | ||
| MAGED1 | MAGE family member D1 | X | Functional | 5 | 1 | ||
| MAL | mal, T-cell differentiation protein | 2 | Functional | 5 | 2 | ||
| MAP2 | microtubule-associated protein 2 | 2 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| MAPK1 | Mitogen-activated protein kinase 1 | 22 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| MAPK8IP2 | Mitogen-activated protein kinase 8 interacting protein 2 | 22 | Functional | 5 | 1 | ||
| KMO | kynurenine 3-monooxygenase | 1 | Functional | 5 | 1 | ||
| LRPPRC | leucine rich pentatricopeptide repeat containing | 2 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| MC4R | Melanocortin 4 receptor | 18 | Functional | 5 | 4 | ||
| MCC | MCC, WNT signaling pathway regulator | 5 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| MOCOS | Molybdenum cofactor sulfurase | 18 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase | 1 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| MYO1A | myosin IA | 12 | Rare Single Gene Mutation | 5 | 7 | ||
| NCKAP5L | NCK-associated protein 5-like | 12 | Rare Single Gene Mutation | 5 | 2 | ||
| NEFL | Neurofilament, light polypeptide | 8 | Rare Single Gene Mutation, Genetic Association | 5 | 2 | ||
| NOS1AP | nitric oxide synthase 1 (neuronal) adaptor protein | 1 | Rare Single Gene Mutation | 5 | 6 | ||
| NOS2 | nitric oxide synthase 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 7 | ||
| MSN | Moesin | X | Functional | 5 | 1 | ||
| MTX2 | Metaxin 2 | 2 | Functional | 5 | 1 | ||
| MYOZ1 | myozenin 1 | 10 | Rare Single Gene Mutation | 5 | 1 | ||
| NR1H2 | nuclear receptor subfamily 1 group H member 2 | 19 | Functional | 5 | 1 | ||
| NRG1 | Neuregulin 1 | 8 | Functional | 5 | 4 | ||
| OPRM1 | opioid receptor, mu 1 | 6 | Functional | 5 | 4 | ||
| P2RX4 | Purinergic receptor P2X, ligand-gated ion channel, 4 | 12 | Functional | 5 | 1 | ||
| PAFAH1B1 | Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | 17 | Functional | 5 | 2 | ||
| OGT | O-linked N-acetylglucosamine (GlcNAc) transferase | X | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| PCDHGA11 | protocadherin gamma subfamily A, 11 | 5 | Rare Single Gene Mutation | 5 | 1 | ||
| PDE4B | phosphodiesterase 4B, cAMP-specific | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 5 | ||
| PDZD4 | PDZ domain containing 4 | X | Rare Single Gene Mutation | 5 | 4 | ||
| PECR | peroxisomal trans-2-enoyl-CoA reductase | 2 | Rare Single Gene Mutation | 5 | 2 | ||
| PGLYRP2 | peptidoglycan recognition protein 2 | 19 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| PINX1 | PIN2/TERF1 interacting, telomerase inhibitor 1 | 8 | Rare Single Gene Mutation | 5 | 5 | ||
| PLCD1 | phospholipase C, delta 1 | 3 | Rare Single Gene Mutation | 5 | 9 | ||
| POU3F2 | POU class 3 homeobox 2 | 6 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| PPP1R3F | protein phosphatase 1, regulatory (inhibitor) subunit 3F | X | Rare Single Gene Mutation | 5 | 3 | ||
| PSMD10 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 | X | Rare Single Gene Mutation | 5 | 6 | ||
| PTGER3 | prostaglandin E receptor 3 | 1 | Rare Single Gene Mutation | 5 | 1 | ||
| RAC1 | Rac family small GTPase 1 | 7 | Syndromic, Functional | 5 | 5 | ||
| PDE4A | phosphodiesterase 4A | 19 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| RB1CC1 | RB1-inducible coiled-coil 1 | 8 | Rare Single Gene Mutation | 5 | 5 | ||
| RBM8A | RNA binding motif protein 8A | 1 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| RBMS3 | RNA binding motif, single stranded interacting protein 3 | 3 | Rare Single Gene Mutation | 5 | 3 | ||
| PVALB | Parvalbumin | 22 | Functional | 5 | 2 | ||
| RFWD2 | ring finger and WD repeat domain 2 | 1 | Rare Single Gene Mutation, Genetic Association | 5 | 9 | ||
| PLPPR4 | phospholipid phosphatase related 4 | 1 | Functional | 5 | 3 | ||
| ROBO1 | roundabout, axon guidance receptor, homolog 1 (Drosophila) | 3 | Rare Single Gene Mutation, Functional | 5 | 11 | ||
| RASD1 | ras related dexamethasone induced 1 | 17 | Functional | 5 | 1 | ||
| RPP25 | ribonuclease P and MRP subunit p25 | 15 | Functional | 5 | 1 | ||
| SH3KBP1 | SH3-domain kinase binding protein 1 | X | Rare Single Gene Mutation | 5 | 4 | ||
| SLC16A7 | Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) | 12 | Rare Single Gene Mutation | 5 | 1 | ||
| SLC25A14 | Solute carrier family 25 (mitochondrial carrier, brain), member 14 | X | Functional | 5 | 1 | ||
| SLC25A24 | Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 | 1 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| SLC30A3 | solute carrier family 30 member 3 | 2 | Functional | 5 | 2 | ||
| SLC30A5 | solute carrier family 30 | 5 | Rare Single Gene Mutation | 5 | 3 | ||
| SLC33A1 | solute carrier family 33 member 1 | 3 | Functional | 5 | 4 | ||
| SLC35A3 | solute carrier family 35 member A3 | 1 | Rare Single Gene Mutation | 5 | 2 | ||
| SNRPN | small nuclear ribonucleoprotein polypeptide N | 15 | Rare Single Gene Mutation | 5 | 5 | ||
| SRRM4 | Serine/arginine repetitive matrix 4 | 12 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| STAT1 | signal transducer and activator of transcription 1 | 2 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| SYN3 | Synapsin III | 22 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| SEMA3F | semaphorin 3F | 3 | Functional | 5 | 1 | ||
| SH3RF2 | SH3 domain containing ring finger 2 | 5 | Functional | 5 | 1 | ||
| SLC22A3 | solute carrier family 22 member 3 | 6 | Functional | 5 | 3 | ||
| TBC1D7 | TBC1 domain family member 7 | 6 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| TERT | telomerase reverse transcriptase | 5 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| TNIP2 | TNFAIP3 interacting protein 2 | 4 | Rare Single Gene Mutation | 5 | 1 | ||
| TOMM20 | Translocase of outer mitochondrial membrane 20 homolog (yeast) | 1 | Functional | 5 | 1 | ||
| TOP1 | Topoisomerase (DNA) I | 20 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| TSN | translin | 2 | Functional | 5 | 3 | ||
| TYR | tyrosinase | 11 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| UBA6 | Ubiquitin-like modifier activating enzyme 6 | 4 | Functional | 5 | 2 | ||
| UBE3B | ubiquitin protein ligase E3B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 5 | 6 | ||
| UBR7 | ubiquitin protein ligase E3 component n-recognin 7 (putative) | 14 | Rare Single Gene Mutation | 5 | 1 | ||
| UCN3 | urocortin 3 | 10 | Functional | 5 | 1 | ||
| UPB1 | beta-ureidopropionase 1 | 22 | Rare Single Gene Mutation | 5 | 1 | ||
| UPF2 | UPF2, regulator of nonsense mediated mRNA decay | 10 | Rare Single Gene Mutation | 5 | 6 | ||
| TH | tyrosine hydroxylase | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 18 | ||
| VLDLR | Very low density lipoprotein receptor | 9 | Functional | 5 | 3 | ||
| VRK3 | vaccinia related kinase 3 | 19 | Functional | 5 | 1 | ||
| WDR93 | WD repeat domain 93 | 15 | Rare Single Gene Mutation | 5 | 1 | ||
| WNT2 | wingless-type MMTV integration site family member 2 | 7 | Rare Single Gene Mutation, Genetic Association | 5 | 10 | ||
| ZNF8 | Zinc finger protein 8 | 19 | Rare Single Gene Mutation | 5 | 1 | ||
| VIP | vasoactive intestinal peptide | 6 | Rare Single Gene Mutation, Functional | 5 | 6 |
6 Category 6 [25 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| AFF4 | AF4/FMR2 family, member 4 | 5 | Rare Single Gene Mutation, Syndromic | 6 | 7 | ||
| ARHGAP15 | Rho GTPase activating protein 15 | 2 | Rare Single Gene Mutation | 6 | 7 | ||
| BCL2 | B-cell CLL/lymphoma 2 | 18 | Functional | 6 | 10 | ||
| CBS | cystathionine beta-synthase | 21 | Rare Single Gene Mutation, Syndromic, Functional | 6 | 7 | ||
| CHST5 | carbohydrate sulfotransferase 5 | 16 | Rare Single Gene Mutation | 6 | 5 | ||
| CSNK1D | casein kinase 1, delta | 17 | Rare Single Gene Mutation | 6 | 1 | ||
| DCX | doublecortin | X | Rare Single Gene Mutation, Syndromic | 6 | 9 | ||
| DUSP22 | dual specificity phosphatase 22 | 6 | Rare Single Gene Mutation | 6 | 1 | ||
| FABP7 | fatty acid binding protein 7, brain | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 6 | 7 | ||
| GNA14 | Guanine nucleotide binding protein (G protein), alpha 14 | 9 | Rare Single Gene Mutation | 6 | 1 | ||
| GRM8 | glutamate receptor, metabotropic 8 | 7 | Rare Single Gene Mutation, Genetic Association | 6 | 7 | ||
| GSN | gelsolin | 9 | Rare Single Gene Mutation | 6 | 1 | ||
| HTR7 | 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) | 10 | Rare Single Gene Mutation, Genetic Association | 6 | 5 | ||
| MED12 | mediator complex subunit 12 | X | Rare Single Gene Mutation, Syndromic, Genetic Association | 6 | 20 | ||
| PCDH8 | protocadherin 8 | 13 | Rare Single Gene Mutation | 6 | 1 | ||
| RAB19 | RAB19, member RAS oncogene family | 7 | Rare Single Gene Mutation | 6 | 2 | ||
| SLC16A3 | solute carrier family 16, member 3 (monocarboxylic acid transporter 4) | 17 | Rare Single Gene Mutation | 6 | 2 | ||
| SUCLG2 | succinate-CoA ligase, GDP-forming, beta subunit | 3 | Rare Single Gene Mutation | 6 | 4 | ||
| TAF1L | TAF1 RNA polymerase II | 9 | Rare Single Gene Mutation | 6 | 3 | ||
| SYT3 | synaptotagmin 3 | 19 | Rare Single Gene Mutation | 6 | 1 | ||
| TGM3 | transglutaminase 3 | 20 | Rare Single Gene Mutation | 6 | 5 | ||
| TPH2 | tryptophan hydroxylase 2 | 12 | Rare Single Gene Mutation, Genetic Association | 6 | 12 | ||
| UBL7 | ubiquitin-like 7 (bone marrow stromal cell-derived) | 15 | Rare Single Gene Mutation | 6 | 1 | ||
| XIRP1 | xin actin-binding repeat containing 1 | 3 | Rare Single Gene Mutation | 6 | 7 | ||
| ZSWIM5 | zinc finger, SWIM-type containing 5 | 1 | Rare Single Gene Mutation | 6 | 1 |