Human Gene Module 1006 total genes
Database updated on June 20, 2019
Category:
Reports:
Reports:
| 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 | ||
| ACHE | Acetylcholinesterase (Yt blood group) | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| ADA | adenosine deaminase | 20 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| ADARB1 | Adenosine deaminase, RNA-specific, B1 | 21 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| ADCY3 | adenylate cyclase 3 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
| ADCY5 | Adenylate cyclase 5 | 3 | Rare Single Gene Mutation | 4 | 6 | ||
| ADK | adenosine kinase | 10 | Rare Single Gene Mutation | 4 | 2 | ||
| ADNP | Activity-dependent neuroprotector homeobox | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34 | |
| ADORA3 | Adenosine A3 receptor | 1 | Rare Single Gene Mutation, Functional | 4 | 2 | ||
| 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 | ||
| AFF4 | AF4/FMR2 family, member 4 | 5 | Rare Single Gene Mutation, Syndromic | 6 | 7 | ||
| AGAP1 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 | 2 | Rare Single Gene Mutation | 4 | 8 | ||
| AGAP2 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
| 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 | ||
| AGO1 | argonaute 1, RISC catalytic component | 1 | Rare Single Gene Mutation | 3 | 7 | ||
| AGTR2 | angiotensin II receptor, type 2 | X | Rare Single Gene Mutation | 4 | 3 | ||
| AHDC1 | AT-hook DNA binding motif containing 1 | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 11 | |
| AKAP9 | A kinase (PRKA) anchor protein 9 | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| AMPD1 | Adenosine monophosphate deaminase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 3 | ||
| AMT | Aminomethyltransferase | 3 | Rare Single Gene Mutation | 3 | 1 | ||
| 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 | |
| ANXA1 | Annexin A1 | 9 | Rare Single Gene Mutation | 3 | 2 | ||
| APBA2 | amyloid beta (A4) precursor protein-binding, family A, member 2 | 15 | Rare Single Gene Mutation | 4 | 7 | ||
| APBB1 | amyloid beta precursor protein binding family B member 1 | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| APC | adenomatosis polyposis coli | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 9 | ||
| APH1A | APH1A gamma secretase subunit | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| ARHGAP15 | Rho GTPase activating protein 15 | 2 | Rare Single Gene Mutation | 6 | 7 | ||
| ARHGAP24 | Rho GTPase activating protein 24 | 4 | Rare Single Gene Mutation | 5 | 1 | ||
| ARHGAP32 | Rho GTPase activating protein 32 | 11 | Rare Single Gene Mutation, Functional | 4 | 7 | ||
| ARHGAP33 | Rho GTPase activating protein 33 | 19 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| 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 | ||
| 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 | |
| ARNT2 | aryl-hydrocarbon receptor nuclear translocator 2 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 11 | ||
| ARX | aristaless related homeobox | X | Rare Single Gene Mutation, Syndromic | 1 | S | 17 | |
| ABAT | 4-aminobutyrate aminotransferase | 16 | Genetic Association | 4 | 4 | ||
| ACTN4 | actinin alpha 4 | 19 | Rare Single Gene Mutation | 4 | 4 | ||
| ACY1 | aminoacylase 1 | 3 | Syndromic | – | 7 | ||
| ADAMTS18 | ADAM metallopeptidase with thrombospondin type 1 motif 18 | 16 | Rare Single Gene Mutation, Syndromic | 5 | 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 | ||
| AGO4 | argonaute RISC catalytic component 4 | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| 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 | ||
| ASAP2 | ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| ASH1L | Ash1 (absent, small, or homeotic)-like (Drosophila) | 1 | Rare Single Gene Mutation, Syndromic | 1 | 13 | ||
| ASMT | acetylserotonin O-methyltransferase | X,Y | Rare Single Gene Mutation, Genetic Association | 4 | 9 | ||
| 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 | ||
| ASXL3 | Additional sex combs like 3 (Drosophila) | 18 | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| ALG6 | ALG6, alpha-1,3-glucosyltransferase | 1 | Syndromic | – | S | 1 | |
| 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 | ||
| AR | androgen receptor | X | Genetic Association | 4 | 6 | ||
| ASS1 | argininosuccinate synthetase | 9 | Functional | 5 | 3 | ||
| ATG7 | Autophagy related 7 | 3 | Functional | 5 | 3 | ||
| ATP10A | Probable phospholipid-transporting ATPase VA | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 4 | S | 13 | |
| ATP2B2 | ATPase, Ca++ transporting, plasma membrane 2 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
| ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | 12 | Rare Single Gene Mutation | 4 | 2 | ||
| ATP8A1 | ATPase phospholipid transporting 8A1 | 4 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| ATRNL1 | Attractin-like 1 | 10 | Rare Single Gene Mutation | 5 | 2 | ||
| ATRX | alpha thalassemia/mental retardation syndrome X-linked | X | Rare Single Gene Mutation, Syndromic | 1 | 17 | ||
| ATXN7 | Ataxin 7 | 3 | Rare Single Gene Mutation | 5 | 1 | ||
| AUTS2 | autism susceptibility candidate 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 34 | ||
| AVP | Arginine vasopressin | 20 | Genetic Association, Functional | 5 | 4 | ||
| AVPR1A | arginine vasopressin receptor 1A | 12 | Rare Single Gene Mutation, Genetic Association | 3 | 21 | ||
| 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 | ||
| BAIAP2 | BAI1-associated protein 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 10 | ||
| BAZ2B | bromodomain adjacent to zinc finger domain 2B | 2 | Rare Single Gene Mutation | 1 | 3 | ||
| BBS4 | Bardet-Biedl syndrome 4 | 15 | Rare Single Gene Mutation, Syndromic | 4 | 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 | |
| BCL2 | B-cell CLL/lymphoma 2 | 18 | Functional | 6 | 10 | ||
| BDNF | Brain-derived neurotrophic factor | 11 | Rare Single Gene Mutation, Functional | 5 | 11 | ||
| BIRC6 | Baculoviral IAP repeat containing 6 | 2 | Rare Single Gene Mutation | 4 | 8 | ||
| BRAF | v-raf murine sarcoma viral oncogene homolog B | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| 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 | ||
| BRINP1 | BMP/retinoic acid inducible neural specific 1 | 9 | Functional | 5 | 2 | ||
| BRSK2 | BR serine/threonine kinase 2 | 11 | Rare Single Gene Mutation, Syndromic | 1 | 3 | ||
| BST1 | bone marrow stromal cell antigen 1 | 4 | Genetic Association, Functional | 4 | 5 | ||
| BTAF1 | RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) | 10 | Rare Single Gene Mutation | 3 | 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 | ||
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 18 | ||
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | 1 | Rare Single Gene Mutation | 3 | 9 | ||
| 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 | ||
| CACNA1H | calcium channel, voltage-dependent, alpha 1H subunit | 16 | Rare Single Gene Mutation | 2 | 23 | ||
| CACNA1I | Calcium channel, voltage-dependent, T type, alpha 1I subunit | 22 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| CACNA2D3 | Calcium channel, voltage-dependent, alpha 2/delta subunit 3 | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| CACNB2 | Calcium channel, voltage-dependent, beta 2 subunit | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 4 | ||
| 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 | |
| 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 | ||
| CAPN12 | Calpain 12 | 19 | Rare Single Gene Mutation | 4 | 5 | ||
| CAPRIN1 | Cell cycle associated protein 1 | 11 | Rare Single Gene Mutation, Functional | 1 | 3 | ||
| 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 | ||
| CASK | calcium/calmodulin dependent serine protein kinase | X | Rare Single Gene Mutation, Syndromic | 1 | 12 | ||
| CC2D1A | Coiled-coil and C2 domain containing 1A | 19 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| 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 | ||
| CCT4 | Chaperonin containing TCP1, subunit 4 (delta) | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| CD276 | CD276molecule | 15 | Rare Single Gene Mutation | 4 | 1 | ||
| CD38 | CD38 molecule | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 8 | ||
| CD44 | CD44 molecule (Indian blood group) | 11 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CDC42BPB | CDC42 binding protein kinase beta (DMPK-like) | 14 | Rare Single Gene Mutation | 3 | 7 | ||
| 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 | ||
| CDKL5 | cyclin-dependent kinase-like 5 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 35 | |
| CDKN1B | cyclin dependent kinase inhibitor 1B | 12 | 5 | 1 | |||
| CECR2 | CECR2, histone acetyl-lysine reader | 22 | Rare Single Gene Mutation | 4 | 2 | ||
| CELF4 | CUGBP, Elav-like family member 4 | 18 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| CELF6 | CUGBP, Elav-like family member 6 | 15 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| CEP135 | centrosomal protein 135 | 4 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| CEP290 | Centrosomal protein 290kDa | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| CEP41 | testis specific, 14 | 7 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
| CGNL1 | Cingulin-like 1 | 15 | Rare Single Gene Mutation | 3 | 3 | ||
| 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 | |
| CHD5 | chromodomain helicase DNA binding protein 5 | 1 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| 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 | |
| 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 | ||
| CASZ1 | castor zinc finger 1 | 1 | Rare Single Gene Mutation | 1 | 4 | ||
| CBLN1 | cerebellin 1 precursor | 16 | Genetic Association, Functional | 5 | 6 | ||
| CBS | cystathionine beta-synthase | 21 | Rare Single Gene Mutation, Syndromic, Functional | 6 | 7 | ||
| CCNG1 | cyclin G1 | 5 | Rare Single Gene Mutation | 3 | 1 | ||
| CCNK | cyclin K | 14 | Syndromic | – | S | 2 | |
| CD99L2 | CD99 molecule like 2 | X | Genetic Association | 4 | 1 | ||
| CDH13 | cadherin 13 | 16 | Rare Single Gene Mutation | 3 | 2 | ||
| CDH22 | cadherin-like 22 | 20 | Genetic Association | 4 | 4 | ||
| CDK8 | cyclin dependent kinase 8 | 13 | Syndromic | – | 1 | ||
| CHD3 | chromodomain helicase DNA binding protein 3 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| CHMP1A | charged multivesicular body protein 1A | 16 | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
| CHRM3 | cholinergic receptor muscarinic 3 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| CHRNA7 | cholinergic receptor, nicotinic, alpha 7 | 15 | Rare Single Gene Mutation | 3 | 13 | ||
| CHRNB3 | cholinergic receptor nicotinic beta 3 subunit | 8 | Rare Single Gene Mutation | 4 | 1 | ||
| CHST5 | carbohydrate sulfotransferase 5 | 16 | Rare Single Gene Mutation | 6 | 5 | ||
| CIB2 | Calcium and integrin binding family member 2 | 15 | Rare Single Gene Mutation | 3 | 1 | ||
| CIC | capicua transcriptional repressor | 19 | Rare Single Gene Mutation, Functional | 1 | S | 5 | |
| CLASP1 | cytoplasmic linker associated protein 1 | 2 | Rare Single Gene Mutation | 3 | 3 | ||
| CLN8 | Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) | 8 | Rare Single Gene Mutation, Syndromic | 4 | 3 | ||
| CLSTN2 | calsyntenin 2 | 3 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| CLSTN3 | Calsyntenin 3 | 12 | Rare Single Gene Mutation, Functional | 5 | 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 | ||
| 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 | |
| CNR1 | cannabinoid receptor 1 (brain) | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 7 | ||
| CNR2 | Cannabinoid receptor 2 (macrophage) | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 4 | ||
| CNTN4 | contactin 4 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 21 | ||
| CNTN5 | Contactin 5 | 11 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
| CNTN6 | Contactin 6 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 64 | |
| CNTNAP4 | Contactin associated protein-like 4 | 16 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| 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 | ||
| CREBBP | CREB binding protein | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 24 | ||
| CRHR2 | corticotropin releasing hormone receptor 2 | 7 | Functional | 5 | 3 | ||
| CSMD1 | CUB and Sushi multiple domains 1 | 8 | Rare Single Gene Mutation, Genetic Association | 4 | 13 | ||
| CSNK1D | casein kinase 1, delta | 17 | Rare Single Gene Mutation | 6 | 1 | ||
| CSNK1E | casein kinase 1 epsilon | 22 | Rare Single Gene Mutation, Functional | 4 | 5 | ||
| CTCF | CCCTC-binding factor | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 13 | ||
| CTNNA3 | catenin (cadherin-associated protein), alpha 3 | 10 | Rare Single Gene Mutation, Genetic Association | 4 | 14 | ||
| CTNNB1 | catenin beta 1 | 3 | Rare Single Gene Mutation, Syndromic | 1 | 20 | ||
| CTNND2 | Catenin (cadherin-associated protein), delta 2 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| CTTNBP2 | cortactin binding protein 2 | 7 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| CUL3 | Cullin 3 | 2 | Rare Single Gene Mutation, Genetic Association | 1 | 17 | ||
| CUL7 | Cullin 7 | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| CUX1 | cut like homeobox 1 | 7 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| 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 | ||
| CPEB4 | cytoplasmic polyadenylation element binding protein 4 | 5 | Functional | 3 | 1 | ||
| CTNNA2 | catenin alpha 2 | 2 | Syndromic | – | S | 1 | |
| 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 | ||
| CXCR3 | chemokine (C-X-C motif) receptor 3 | X | Rare Single Gene Mutation | 5 | 8 | ||
| CYFIP1 | cytoplasmic FMR1 interacting protein 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 16 | ||
| 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 | ||
| CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | 2 | Syndromic | – | S | 2 | |
| DAB1 | disabled homolog 1 (Drosophila) | 1 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| DAGLA | diacylglycerol lipase alpha | 11 | Rare Single Gene Mutation, Functional | 4 | 4 | ||
| DAPK1 | death-associated protein kinase 1 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 5 | ||
| DAPP1 | Dual adaptor of phosphotyrosine and 3-phosphoinositides | 4 | Rare Single Gene Mutation | 3 | 1 | ||
| 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 | ||
| DCX | doublecortin | X | Rare Single Gene Mutation, Syndromic | 6 | 9 | ||
| DDC | dopa decarboxylase | 7 | Genetic Association | 4 | 2 | ||
| DDX11 | DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 | 12 | Functional | 5 | 3 | ||
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| DDX53 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 | X | Rare Single Gene Mutation | 4 | 3 | ||
| DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| DENR | density-regulated protein | 12 | Rare Single Gene Mutation | 3 | 3 | ||
| DHCR7 | 7-dehydrocholesterol reductase | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| DHX30 | DExH-box helicase 30 | 3 | Syndromic | – | S | 1 | |
| DIAPH3 | Diaphanous-related formin 3 | 13 | Rare Single Gene Mutation, Genetic Association | 5 | 11 | ||
| DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila) | 21 | Rare Single Gene Mutation | 3 | 5 | ||
| DIP2C | disco interacting protein 2 homolog C | 10 | Rare Single Gene Mutation | 2 | 2 | ||
| DISC1 | disrupted in schizophrenia 1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 34 | ||
| 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 | ||
| DLG4 | discs large MAGUK scaffold protein 4 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 10 | ||
| DLGAP1 | DLG associated protein 1 | 18 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| 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 | ||
| DMPK | dystrophia myotonica-protein kinase | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| 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 | ||
| DNM1L | Dynamin 1-like | 12 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 12 | |
| DOCK1 | Dedicator of cytokinesis 1 | 10 | Rare Single Gene Mutation | 4 | 2 | ||
| DOCK10 | Dedicator of cytokinesis 10 | 2 | Rare Single Gene Mutation | 5 | 1 | ||
| DOCK4 | Dedicator of cytokinesis 4 | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| DOCK8 | dedicator of cytokinesis 8 | 9 | Rare Single Gene Mutation | 3 | 8 | ||
| DPP10 | Dipeptidyl-peptidase 10 | 2 | Rare Single Gene Mutation | 3 | 11 | ||
| 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 | ||
| DPYSL2 | dihydropyrimidinase like 2 | 8 | Rare Single Gene Mutation, Genetic Association | 3 | 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 | ||
| DSCAM | Down syndrome cell adhesion molecule | 21 | Rare Single Gene Mutation, Genetic Association | 1 | 8 | ||
| DST | Dystonin | 6 | Rare Single Gene Mutation | 4 | 6 | ||
| DUSP15 | dual specificity phosphatase 15 | 20 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| DUSP22 | dual specificity phosphatase 22 | 6 | Rare Single Gene Mutation | 6 | 1 | ||
| 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 | |||
| 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 | |
| DGKK | diacylglycerol kinase kappa | X | Functional | 5 | 1 | ||
| DGKZ | diacylglycerol kinase zeta | 11 | Rare Single Gene Mutation | 5 | 2 | ||
| DLGAP3 | DLG associated protein 3 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 10 | ||
| DLX1 | distal-less homeobox 1 | 2 | Genetic Association | 5 | 8 | ||
| DLX2 | distal-less homeobox 2 | 2 | Genetic Association | 4 | 11 | ||
| DLX3 | distal-less homeobox 3 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| DNAJC19 | DnaJ heat shock protein family (Hsp40) member C19 | 3 | Functional | 5 | 1 | ||
| DOLK | dolichol kinase | 9 | Syndromic | – | 2 | ||
| DRD1 | Dopamine receptor D1 | 5 | Genetic Association, Functional | 4 | 4 | ||
| DVL1 | Dishevelled segment polarity protein 1 | 1 | Functional | 5 | 3 | ||
| EBF3 | early B-cell factor 3 | 10 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| EFR3A | EFR3 homolog A (S. cerevisiae) | 8 | Rare Single Gene Mutation | 3 | 5 | ||
| EGR2 | early growth response 2 (Krox-20 homolog, Drosophila) | 10 | Functional | 5 | 4 | ||
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| 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 | ||
| EIF4EBP2 | Eukaryotic translation initiation factor 4E binding protein 2 | 10 | Functional | 5 | 1 | ||
| ELAVL2 | ELAV like neuron-specific RNA binding protein 2 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 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 | ||
| EML1 | echinoderm microtubule associated protein like 1 | 14 | Rare Single Gene Mutation | 5 | 2 | ||
| EN2 | engrailed homolog 2 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 23 | ||
| EP300 | E1A binding protein p300 | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| EP400 | E1A binding protein p400 | 12 | Rare Single Gene Mutation | 3 | 6 | ||
| EPC2 | Enhancer of polycomb homolog 2 (Drosophila) | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| EPHA6 | EPH receptor A6 | 3 | Rare Single Gene Mutation | 5 | 6 | ||
| EPHB2 | EPH receptor B2 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| EPHB6 | EPH receptor B6 | 7 | Rare Single Gene Mutation | 5 | 5 | ||
| EPPK1 | epiplakin 1 | 8 | Rare Single Gene Mutation | 4 | 3 | ||
| 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 | ||
| ERG | ERG, ETS transcription factor | 21 | Genetic Association | 4 | 1 | ||
| EMSY | EMSY, BRCA2 interacting transcriptional repressor | 11 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| ERBIN | erbb2 interacting protein | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| ERMN | ermin | 2 | Rare Single Gene Mutation | 4 | 1 | ||
| ESR1 | estrogen receptor 1 | 6 | Syndromic, Genetic Association | 5 | 10 | ||
| 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 | ||
| ETFB | Electron-transfer-flavoprotein, beta polypeptide | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| EXOC6B | exocyst complex component 6B | 2 | Rare Single Gene Mutation | 4 | 3 | ||
| EXT1 | Exostosin 1 | 8 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| 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 | ||
| FABP5 | fatty acid binding protein 5 (psoriasis-associated) | 8 | Rare Single Gene Mutation, Functional | 4 | 6 | ||
| FABP7 | fatty acid binding protein 7, brain | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 6 | 7 | ||
| 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 | ||
| FAM47A | family with sequence similarity 47 member A | X | Rare Single Gene Mutation | 4 | 1 | ||
| FAM92B | Family with sequence similarity 92, member B | 16 | Rare Single Gene Mutation | 3 | 3 | ||
| 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 | ||
| FBN1 | Fibrillin 1 | 15 | Rare Single Gene Mutation | 3 | 10 | ||
| 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 | ||
| 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 | ||
| FHIT | fragile histidine triad gene | 3 | Rare Single Gene Mutation, Genetic Association | 4 | 12 | ||
| FLT1 | fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor) | 13 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| FMR1 | fragile X mental retardation 1 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| DLGAP4 | DLG associated protein 4 | 20 | Functional | 5 | 2 | ||
| 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 | |
| FGFR2 | fibroblast growth factor receptor 2 | 10 | Functional | 5 | 1 | ||
| 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 | |
| FOXP2 | forkhead box P2 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 41 | ||
| 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 | |
| GABRA1 | Gamma-aminobutyric acid (GABA) A receptor, alpha 1 | 5 | Rare Single Gene Mutation, Functional | 5 | 7 | ||
| GABRA4 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | 4 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| 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 | ||
| GABRB3 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | 15 | Rare Single Gene Mutation, Genetic Association | 2 | 37 | ||
| 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 | ||
| 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 | ||
| GAN | Gigaxonin | 16 | Rare Single Gene Mutation | 5 | 1 | ||
| GATM | Glycine amidinotransferase (L-arginine:glycine amidinotransferase) | 15 | Syndromic | – | S | 2 | |
| GDA | guanine deaminase | 9 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| GGNBP2 | gametogenetin binding protein 2 | 17 | Rare Single Gene Mutation | 3 | 2 | ||
| 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 | ||
| 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 | ||
| GNA14 | Guanine nucleotide binding protein (G protein), alpha 14 | 9 | Rare Single Gene Mutation | 6 | 1 | ||
| 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 | ||
| GPC4 | glypican 4 | X | Rare Single Gene Mutation | 3 | 2 | ||
| GPC6 | glypican 6 | 13 | Rare Single Gene Mutation, Genetic Association | 4 | 8 | ||
| GPHN | Gephyrin | 14 | Rare Single Gene Mutation | 3 | 8 | ||
| GPR139 | G protein-coupled receptor 139 | 16 | Rare Single Gene Mutation | 5 | 5 | ||
| 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 | ||
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| GRID1 | Glutamate receptor, ionotropic, delta 1 | 10 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| GRID2 | glutamate receptor, ionotropic, delta 2 | 4 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 9 | ||
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 18 | ||
| GRIK4 | Glutamate receptor, ionotropic, kainate 4 | 11 | Rare Single Gene Mutation, Functional | 4 | 3 | ||
| GRIK5 | Glutamate receptor, ionotropic, kainate 5 | 19 | Rare Single Gene Mutation | 3 | 8 | ||
| 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 | ||
| FOLH1 | folate hydrolase 1 | 11 | Functional | 5 | 2 | ||
| 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 | ||
| GAP43 | Growth associated protein 43 | 3 | Functional | 5 | 1 | ||
| 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 | ||
| GRIN2B | glutamate receptor, inotropic, N-methyl D-apartate 2B | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 48 | ||
| GRIP1 | glutamate receptor interacting protein 1 | 12 | Rare Single Gene Mutation | 2 | 12 | ||
| 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 | ||
| GRM8 | glutamate receptor, metabotropic 8 | 7 | Rare Single Gene Mutation, Genetic Association | 6 | 7 | ||
| 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 | ||
| GSN | gelsolin | 9 | Rare Single Gene Mutation | 6 | 1 | ||
| GRM4 | Glutamate receptor, metabotropic 4 | 6 | Functional | 5 | 1 | ||
| 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 | ||
| 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 | ||
| HDLBP | high density lipoprotein binding protein | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| 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 | ||
| 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 | ||
| HMGN1 | high mobility group nucleosome binding domain 1 | 21 | Genetic Association | 3 | 1 | ||
| 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 | |
| HOMER1 | Homer homolog 1 (Drosophila) | 5 | Rare Single Gene Mutation, Functional | 4 | 5 | ||
| HOXB1 | homeobox B1 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 8 | ||
| HRAS | v-Ha-ras Harvey rat sarcoma viral oncogene homolog | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 11 | ||
| 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 | ||
| HTR2A | 5-hydroxytryptamine (serotonin) receptor 2A | 13 | Rare Single Gene Mutation, Genetic Association | 5 | 9 | ||
| 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 | ||
| HTR7 | 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) | 10 | Rare Single Gene Mutation, Genetic Association | 6 | 5 | ||
| HYDIN | HYDIN, axonemal central pair apparatus protein | 16 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| ICA1 | islet cell autoantigen 1 | 7 | Rare Single Gene Mutation | 3 | 8 | ||
| HDAC6 | histone deacetylase 6 | X | Rare Single Gene Mutation | 5 | 6 | ||
| HDAC8 | histone deacetylase 8 | X | Syndromic | – | S | 6 | |
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | 6 | Genetic Association | 4 | 11 | ||
| 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 | ||
| 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 | ||
| IL6 | interleukin 6 | 7 | Functional | 5 | 6 | ||
| ILF2 | Interleukin enhancer binding factor 2 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
| 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 | ||
| INTS6 | Integrator complex subunit 6 | 13 | Rare Single Gene Mutation | 2 | 4 | ||
| IQGAP3 | IQ motif containing GTPase activating protein 3 | 1 | Rare Single Gene Mutation | 4 | 3 | ||
| 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 | |
| ITGB3 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 17 | Rare Single Gene Mutation, Genetic Association | 3 | 14 | ||
| ITGB7 | integrin, beta 7 | 12 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| ITPR1 | inositol 1,4,5-trisphosphate receptor type 1 | 3 | Rare Single Gene Mutation | 4 | 9 | ||
| JAKMIP1 | Janus kinase and microtubule interacting protein 1 | 4 | Rare Single Gene Mutation, Functional | 5 | 8 | ||
| JARID2 | jumonji and AT-rich interaction domain containing 2 | 6 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
| 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 | ||
| KAT2B | K(lysine) acetyltransferase 2B | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 12 | |
| KATNAL1 | katanin catalytic subunit A1 like 1 | 13 | Rare Single Gene Mutation, Functional | 4 | 2 | ||
| 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 | |
| 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 | ||
| KCNJ10 | potassium voltage-gated channel subfamily J member 10 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 11 | ||
| KCNJ2 | Potassium inwardly-rectifying channel, subfamily J, member 2 | 17 | Rare Single Gene Mutation, Genetic Association | 5 | 3 | ||
| 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 | ||
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 20 | ||
| KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | 8 | Rare Single Gene Mutation, Genetic Association | 1 | 7 | ||
| KCNT1 | potassium sodium-activated channel subfamily T member 1 | 9 | Rare Single Gene Mutation, Syndromic | 5 | 11 | ||
| 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 | ||
| KDM5B | Lysine (K)-specific demethylase 5B | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 12 | ||
| KDM5C | lysine demethylase 5C | X | Rare Single Gene Mutation, Syndromic, Functional | 3 | 22 | ||
| KDM6A | lysine demethylase 6A | X | Rare Single Gene Mutation, Syndromic | 2 | 6 | ||
| KDM6B | Lysine (K)-specific demethylase 6B | 17 | Rare Single Gene Mutation | 1 | 8 | ||
| KHDRBS2 | KH domain containing, RNA binding, signal transduction associated 2 | 6 | Rare Single Gene Mutation | 4 | 2 | ||
| KIAA1586 | KIAA1586 | 6 | Rare Single Gene Mutation | 3 | 3 | ||
| KIF13B | Kinesin family member 13B | 8 | Rare Single Gene Mutation | 4 | 3 | ||
| KIF21B | kinesin family member 21B | 1 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| KIF5C | Kinesin family member 5C | 2 | Rare Single Gene Mutation, Syndromic | 4 | S | 7 | |
| KIRREL3 | Kin of IRRE like 3 (Drosophila) | 11 | Rare Single Gene Mutation | 3 | 15 | ||
| KLC2 | Kinesin light chain 2 | 11 | Rare Single Gene Mutation | 5 | 2 | ||
| KLF16 | Kruppel like factor 16 | 19 | Rare Single Gene Mutation | 4 | 1 | ||
| KMT2A | Lysine (K)-specific methyltransferase 2A | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| ITGA4 | integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) | 2 | Genetic Association | 5 | 5 | ||
| 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 | ||
| 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 | ||
| KHDRBS3 | KH RNA binding domain containing, signal transduction associated 3 | 8 | Functional | 5 | 2 | ||
| KIF14 | kinesin family member 14 | 1 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| KIT | KIT proto-oncogene receptor tyrosine kinase | 4 | Syndromic | 5 | 1 | ||
| KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | 7 | ||
| 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 | ||
| LAMB1 | laminin, beta 1 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| LAMC3 | laminin, gamma 3 | 9 | Rare Single Gene Mutation | 5 | 9 | ||
| LAT | linker for activation of T-cells | 16 | Functional | 5 | 2 | ||
| LEO1 | LEO1 homolog, Paf1/RNA polymerase II complex component | 15 | Rare Single Gene Mutation | 2 | 3 | ||
| 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 | |||
| LMX1B | LIM homeobox transcription factor 1 beta | 9 | Genetic Association | 3 | 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 | ||
| KMT5B | lysine methyltransferase 5B | 11 | Rare Single Gene Mutation, Syndromic | 1 | 10 | ||
| 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 | ||
| LZTR1 | Leucine-zipper-like transcription regulator 1 | 22 | Rare Single Gene Mutation, Syndromic | 1 | 9 | ||
| LZTS2 | leucine zipper, putative tumor suppressor 2 | 10 | Genetic Association | 4 | 4 | ||
| MACROD2 | MACRO domain containing 2 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 19 | ||
| MAGED1 | MAGE family member D1 | X | Functional | 5 | 1 | ||
| MAGEL2 | MAGE-like 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| MAL | mal, T-cell differentiation protein | 2 | Functional | 5 | 2 | ||
| MAOA | monoamine oxidase A | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 4 | 15 | ||
| 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 | ||
| MAPK3 | mitogen-activated protein kinase 3 | 16 | Rare Single Gene Mutation, Functional | 4 | 4 | ||
| MAPK8IP2 | Mitogen-activated protein kinase 8 interacting protein 2 | 22 | Functional | 5 | 1 | ||
| 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 | ||
| MBD5 | Methyl-CpG binding domain protein 5 | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 31 | |
| MBD6 | Methyl-CpG binding domain protein 6 | 12 | Rare Single Gene Mutation | 4 | 1 | ||
| MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 3 | |
| 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 | ||
| MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 75 | |
| KMO | kynurenine 3-monooxygenase | 1 | Functional | 5 | 1 | ||
| MED12 | mediator complex subunit 12 | X | Rare Single Gene Mutation, Syndromic, Genetic Association | 6 | 20 | ||
| 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 | |
| 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 | ||
| MET | met proto-oncogene (hepatocyte growth factor receptor) | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 37 | ||
| MFRP | Membrane frizzled-related protein | 11 | Rare Single Gene Mutation | 3 | 6 | ||
| MIB1 | Mindbomb E3 ubiquitin protein ligase 1 | 18 | Rare Single Gene Mutation | 4 | 5 | ||
| LNPK | lunapark, ER junction formation factor | 2 | Syndromic | – | S | 1 | |
| LRPPRC | leucine rich pentatricopeptide repeat containing | 2 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| 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 | ||
| MC4R | Melanocortin 4 receptor | 18 | Functional | 5 | 4 | ||
| MCC | MCC, WNT signaling pathway regulator | 5 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| MEIS2 | Meis homeobox 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| MKL2 | MKL/myocardin-like 2 | 16 | Rare Single Gene Mutation, Genetic Association | 4 | 10 | ||
| MOCOS | Molybdenum cofactor sulfurase | 18 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| 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 | ||
| MTOR | Mechanistic target of rapamycin (serine/threonine kinase) | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 15 | |
| MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase | 1 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| 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 | ||
| MYO1A | myosin IA | 12 | Rare Single Gene Mutation | 5 | 7 | ||
| MYO1E | myosin IE | 15 | Rare Single Gene Mutation | 4 | 3 | ||
| 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 | ||
| MYO5C | myosin VC | 15 | Rare Single Gene Mutation | 4 | 2 | ||
| MYO9B | Myosin IXB | 19 | Rare Single Gene Mutation | 3 | 4 | ||
| 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 | |
| NACC1 | nucleus accumbens associated 1 | 19 | Rare Single Gene Mutation, Syndromic | 4 | S | 4 | |
| NAV2 | neuron navigator 2 | 11 | Rare Single Gene Mutation | 3 | 9 | ||
| NBEA | neurobeachin | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 17 | |
| NCKAP1 | NCK-associated protein 1 | 2 | Rare Single Gene Mutation | 1 | 7 | ||
| NCKAP5 | NCK-associated protein 5 | 2 | Rare Single Gene Mutation | 4 | 1 | ||
| NCKAP5L | NCK-associated protein 5-like | 12 | Rare Single Gene Mutation | 5 | 2 | ||
| NCOR1 | nuclear receptor corepressor 1 | 17 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| NEFL | Neurofilament, light polypeptide | 8 | Rare Single Gene Mutation, Genetic Association | 5 | 2 | ||
| NEO1 | Neogenin 1 | 15 | 4 | 1 | |||
| 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 | ||
| NFIA | nuclear factor I/A | 1 | Rare Single Gene Mutation | 4 | 10 | ||
| NINL | Ninein-like | 20 | Rare Single Gene Mutation | 3 | 4 | ||
| 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 | ||
| NIPBL | Nipped-B homolog (Drosophila) | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| NLGN1 | neuroligin 1 | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 17 | ||
| 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 | ||
| 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 | ||
| 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 | |
| NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
| NR4A2 | nuclear receptor subfamily 4 group A member 2 | 2 | Rare Single Gene Mutation | 1 | 6 | ||
| 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 | ||
| 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 | ||
| MNT | MAX network transcriptional repressor | 17 | Genetic Association | 4 | 1 | ||
| MSN | Moesin | X | Functional | 5 | 1 | ||
| MSNP1AS | Moesinpseudogene 1, antisense | 5 | Genetic Association, Functional | 2 | 12 | ||
| MTX2 | Metaxin 2 | 2 | Functional | 5 | 1 | ||
| MYH10 | myosin heavy chain 10 | 17 | Rare Single Gene Mutation | 3 | 5 | ||
| MYOZ1 | myozenin 1 | 10 | Rare Single Gene Mutation | 5 | 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 | ||
| NFE2L3 | nuclear factor, erythroid 2 like 3 | 7 | Rare Single Gene Mutation | 3 | 3 | ||
| 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 | ||
| NR1H2 | nuclear receptor subfamily 1 group H member 2 | 19 | Functional | 5 | 1 | ||
| NRG1 | Neuregulin 1 | 8 | Functional | 5 | 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 | |
| NTRK1 | neurotrophic tyrosine kinase, receptor, type 1 | 1 | Rare Single Gene Mutation, Syndromic | 4 | 8 | ||
| NTRK2 | neurotrophic receptor tyrosine kinase 2 | 9 | Syndromic | – | S | 3 | |
| NTRK3 | neurotrophic tyrosine kinase, receptor, type 3 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | 13 | ||
| NUAK1 | NUAK family, SNF1-like kinase, 1 | 12 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
| 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 | ||
| OPHN1 | oligophrenin 1 | X | Rare Single Gene Mutation, Syndromic | 3 | 14 | ||
| OPRM1 | opioid receptor, mu 1 | 6 | Functional | 5 | 4 | ||
| 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 | ||
| 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 | ||
| OTX1 | Orthodenticle homeobox 1 | 2 | Genetic Association | 4 | 3 | ||
| OXT | oxytocin/neurophysin I prepropeptide | 20 | Genetic Association | 4 | 4 | ||
| OXTR | oxytocin receptor | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 44 | ||
| P2RX4 | Purinergic receptor P2X, ligand-gated ion channel, 4 | 12 | Functional | 5 | 1 | ||
| 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 | ||
| PACS1 | phosphofurin acidic cluster sorting protein 1 | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| PAFAH1B1 | Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | 17 | Functional | 5 | 2 | ||
| 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 | ||
| OGT | O-linked N-acetylglucosamine (GlcNAc) transferase | X | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| PAK2 | p21 (RAC1) activated kinase 2 | 3 | Rare Single Gene Mutation | 3 | 4 | ||
| PAPOLG | poly(A) polymerase gamma | 2 | Rare Single Gene Mutation | 4 | 3 | ||
| PAX5 | Paired box 5 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
| PBX1 | PBX homeobox 1 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| PCCA | propionyl-CoA carboxylase alpha subunit | 13 | Syndromic | – | S | 9 | |
| 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 | ||
| PCDH19 | protocadherin 19 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 33 | |
| PCDH8 | protocadherin 8 | 13 | Rare Single Gene Mutation | 6 | 1 | ||
| 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 | ||
| PCDHGA11 | protocadherin gamma subfamily A, 11 | 5 | Rare Single Gene Mutation | 5 | 1 | ||
| PDCD1 | programmed cell death 1 | 2 | Rare Single Gene Mutation | 4 | 3 | ||
| 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 | ||
| PER1 | period homolog 1 (Drosophila) | 17 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| PER2 | period circadian clock 2 | 2 | Rare Single Gene Mutation | 3 | 2 | ||
| PGLYRP2 | peptidoglycan recognition protein 2 | 19 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| PHF2 | PHD finger protein 2 | 9 | Rare Single Gene Mutation | 3 | 5 | ||
| 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 | |
| PHRF1 | PHD and ring finger domains 1 | 11 | Rare Single Gene Mutation | 3 | 4 | ||
| PINX1 | PIN2/TERF1 interacting, telomerase inhibitor 1 | 8 | Rare Single Gene Mutation | 5 | 5 | ||
| PITX1 | paired-like homeodomain 1 | 5 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| PLCB1 | phospholipase C, beta 1 (phosphoinositide-specific) | 20 | Rare Single Gene Mutation | 3 | 7 | ||
| PLCD1 | phospholipase C, delta 1 | 3 | Rare Single Gene Mutation | 5 | 9 | ||
| PLN | phospholamban | 6 | Rare Single Gene Mutation | 4 | 4 | ||
| PLXNA3 | plexin A3 | X | Rare Single Gene Mutation | 4 | 2 | ||
| PLXNA4 | Plexin A4 | 7 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| PLXNB1 | plexin B1 | 3 | Rare Single Gene Mutation | 3 | 3 | ||
| PNPLA7 | patatin like phospholipase domain containing 7 | 9 | Rare Single Gene Mutation | 4 | 3 | ||
| POGZ | Pogo transposable element with ZNF domain | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 25 | |
| 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 | ||
| POU3F2 | POU class 3 homeobox 2 | 6 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17 | Rare Single Gene Mutation, Syndromic | 4 | S | 6 | |
| PPP1R3F | protein phosphatase 1, regulatory (inhibitor) subunit 3F | X | Rare Single Gene Mutation | 5 | 3 | ||
| PPP2R1B | protein phosphatase 2 regulatory subunit A, beta | 11 | Rare Single Gene Mutation | 4 | 5 | ||
| PPP2R5D | Protein phosphatase 2, regulatory subunit B', delta | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| 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 | ||
| PRKDC | protein kinase, DNA-activated, catalytic polypeptide | 8 | Rare Single Gene Mutation, Syndromic, Functional | 4 | 5 | ||
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Syndromic, Genetic Association | 3 | S | 6 | |
| PRPF39 | pre-mRNA processing factor 39 | 14 | Rare Single Gene Mutation | 4 | 3 | ||
| PRR12 | proline rich 12 | 19 | Syndromic | – | S | 2 | |
| 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 | ||
| PSMD10 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 | X | Rare Single Gene Mutation | 5 | 6 | ||
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | 17 | Syndromic | 1 | S | 3 | |
| PTBP2 | polypyrimidine tract binding protein 2 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 4 | ||
| PTCHD1 | patched domain containing 1 | X | Rare Single Gene Mutation, Genetic Association | 1 | 11 | ||
| PRKN | parkin RBR E3 ubiquitin protein ligase | 6 | Rare Single Gene Mutation, Genetic Association | 3 | 15 | ||
| PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 55 | |
| PTGER3 | prostaglandin E receptor 3 | 1 | Rare Single Gene Mutation | 5 | 1 | ||
| PTK7 | Protein tyrosine kinase 7 (inactive) | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 12 | Rare Single Gene Mutation, Syndromic | 1 | S | 14 | |
| PTPRB | protein tyrosine phosphatase, receptor type B | 12 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PYHIN1 | Pyrin and HIN domain family, member 1 | 1 | Rare Single Gene Mutation | 3 | 4 | ||
| QRICH1 | glutamine rich 1 | 3 | Rare Single Gene Mutation | 4 | 3 | ||
| RAB11FIP5 | RAB11 family interacting protein 5 | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| RAB2A | RAB2A, member RAS oncogene family | 8 | Rare Single Gene Mutation | 3 | 8 | ||
| RAB39B | RAB39B, member RAS oncogene family | X | Rare Single Gene Mutation | 4 | 10 | ||
| RAB43 | RAB43, member RAS oncogene family | 3 | Rare Single Gene Mutation | 3 | 2 | ||
| RAC1 | Rac family small GTPase 1 | 7 | Syndromic, Functional | 5 | 5 | ||
| RAD21L1 | RAD21 cohesin complex component like 1 | 20 | Rare Single Gene Mutation | 4 | 2 | ||
| RAI1 | retinoic acid induced 1 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| PDE1C | phosphodiesterase 1C | 7 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| PDE4A | phosphodiesterase 4A | 19 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| 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 | ||
| PHF21A | PHD finger protein 21A | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| RANBP17 | RAN binding protein 17 | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| RAPGEF4 | Rap guanine nucleotide exchange factor (GEF) 4 | 2 | Rare Single Gene Mutation | 4 | 16 | ||
| RB1CC1 | RB1-inducible coiled-coil 1 | 8 | Rare Single Gene Mutation | 5 | 5 | ||
| 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 | ||
| 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 | ||
| REEP3 | receptor accessory protein 3 | 10 | Rare Single Gene Mutation | 4 | 3 | ||
| RELN | Reelin | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 50 | ||
| PCDHAC1 | Protocadherin alpha subfamily C, 1 | 5 | Genetic Association | 4 | 2 | ||
| PCDHAC2 | Protocadherin alpha subfamily C, 2 | 5 | Genetic Association | 4 | 3 | ||
| PHB | prohibitin | 17 | Genetic Association | 3 | 1 | ||
| PIK3CG | phosphoinositide-3-kinase, catalytic, gamma polypeptide | 7 | Genetic Association | 4 | 4 | ||
| PLAUR | Plasminogen activator, urokinase receptor | 19 | Genetic Association | 4 | 1 | ||
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 4 | |
| PON1 | paraoxonase 1 | 7 | Genetic Association | 3 | 5 | ||
| 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 | ||
| PPP2CA | protein phosphatase 2 catalytic subunit alpha | 5 | Syndromic | – | S | 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 | ||
| PVALB | Parvalbumin | 22 | Functional | 5 | 2 | ||
| PXDN | peroxidasin | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| RAB19 | RAB19, member RAS oncogene family | 7 | Rare Single Gene Mutation | 6 | 2 | ||
| RALA | RAS like proto-oncogene A | 7 | Syndromic | – | S | 2 | |
| RALGAPB | Ral GTPase activating protein non-catalytic beta subunit | 20 | Rare Single Gene Mutation | 1 | 3 | ||
| RASSF5 | Ras association domain family member 5 | 1 | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| RERE | Arginine-glutamic acid dipeptide (RE) repeats | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 6 | |
| RFWD2 | ring finger and WD repeat domain 2 | 1 | Rare Single Gene Mutation, Genetic Association | 5 | 9 | ||
| RFX3 | regulatory factor X3 | 9 | Rare Single Gene Mutation | 1 | 5 | ||
| RGS7 | regulator of G-protein signaling 7 | 1 | Rare Single Gene Mutation | 4 | 6 | ||
| RHEB | Ras homolog, mTORC1 binding | 7 | Syndromic | – | S | 1 | |
| RHOXF1 | Rhox homeobox family, member 1 | X | Genetic Association | 4 | 3 | ||
| RIMS1 | Regulating synaptic membrane exocytosis 1 | 6 | Rare Single Gene Mutation, Genetic Association | 1 | 6 | ||
| RIMS3 | regulating synaptic membrane exocytosis 3 | 1 | Rare Single Gene Mutation | 4 | 4 | ||
| RIT2 | Ras-like without CAAX 2 | 18 | Genetic Association | 4 | 3 | ||
| PLPPR4 | phospholipid phosphatase related 4 | 1 | Functional | 5 | 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 | ||
| ROBO1 | roundabout, axon guidance receptor, homolog 1 (Drosophila) | 3 | Rare Single Gene Mutation, Functional | 5 | 11 | ||
| ROBO2 | roundabout guidance receptor 2 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 8 | ||
| 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 | |
| SAE1 | SUMO1 activating enzyme subunit 1 | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 4 | S | 26 | |
| SBF1 | SET binding factor 1 | 22 | Rare Single Gene Mutation | 3 | 8 | ||
| SCFD2 | sec1 family domain containing 2 | 4 | Rare Single Gene Mutation | 4 | 2 | ||
| SCN1A | sodium channel, voltage-gated, type I, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 53 | |
| RP11-1407O15.2 | 17 | Rare Single Gene Mutation | 4 | 1 | |||
| RAD21 | RAD21cohesin complex component | 8 | Syndromic | – | S | 3 | |
| RASD1 | ras related dexamethasone induced 1 | 17 | Functional | 5 | 1 | ||
| RPP25 | ribonuclease P and MRP subunit p25 | 15 | Functional | 5 | 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 | ||
| SCN2A | sodium channel, voltage-gated, type II, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic | 1 | 57 | ||
| SCN4A | Sodium channel, voltage gated, type IV alpha subunit | 17 | Rare Single Gene Mutation | 4 | 4 | ||
| SCN8A | sodium channel, voltage gated, type VIII, alpha subunit | 12 | Rare Single Gene Mutation, Syndromic | 1 | 33 | ||
| SCN9A | sodium voltage-gated channel alpha subunit 9 | 2 | Rare Single Gene Mutation | 2 | 5 | ||
| 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 | ||
| 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 | ||
| SETBP1 | SET binding protein 1 | 18 | Rare Single Gene Mutation, Syndromic | 1 | 12 | ||
| SETD1B | SET domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic | 4 | S | 6 | |
| 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 | |
| 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 | ||
| SH3KBP1 | SH3-domain kinase binding protein 1 | X | Rare Single Gene Mutation | 5 | 4 | ||
| SHANK1 | SH3 and multiple ankyrin repeat domains 1 | 19 | Rare Single Gene Mutation, Genetic Association | 3 | 6 | ||
| 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 | |
| SHOX | short stature homeobox | X,Y | Rare Single Gene Mutation | 3 | 2 | ||
| SIN3A | SIN3 transcription regulator family member A | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| SLC12A5 | Solute carrier family 12 (potassium/chloride transporter), member 5 | 20 | Rare Single Gene Mutation | 3 | 5 | ||
| SLC16A3 | solute carrier family 16, member 3 (monocarboxylic acid transporter 4) | 17 | Rare Single Gene Mutation | 6 | 2 | ||
| SLC16A7 | Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) | 12 | Rare Single Gene Mutation | 5 | 1 | ||
| SLC1A1 | solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 | 9 | Rare Single Gene Mutation, Genetic Association | 4 | 11 | ||
| SET | SETnuclear proto-oncogene | 9 | Rare Single Gene Mutation | 2 | 4 | ||
| 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 | ||
| 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 | ||
| 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 | ||
| 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 | ||
| 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 | ||
| SLC4A10 | solute carrier family 4, sodium bicarbonate transporter-like, member 10 | 2 | Rare Single Gene Mutation, Genetic Association | 4 | 6 | ||
| SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 20 | |
| SLC6A3 | Solute carrier family 6 (neurotransmitter transporter), member 3 | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 15 | ||
| 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 | ||
| 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 | ||
| SLC7A7 | solute carrier family 7 member 7 | 14 | Rare Single Gene Mutation | 4 | 2 | ||
| SLC9A6 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 13 | |
| 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 | ||
| 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 | ||
| 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 | |
| SMC1A | structural maintenance of chromosomes 1A | X | Syndromic | – | S | 5 | |
| 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 | ||
| SNRPN | small nuclear ribonucleoprotein polypeptide N | 15 | Rare Single Gene Mutation | 5 | 5 | ||
| SNTG2 | syntrophin gamma 2 | 2 | Rare Single Gene Mutation | 4 | 5 | ||
| SOD1 | superoxide dismutase 1 | 21 | Genetic Association, Functional | 4 | 2 | ||
| SOX5 | SRY-box 5 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 13 | |
| SPARCL1 | SPARC like 1 | 4 | Rare Single Gene Mutation, Functional | 3 | 3 | ||
| SPAST | Spastin | 2 | Rare Single Gene Mutation | 1 | 9 | ||
| SPP2 | secreted phosphoprotein 2 | 2 | Rare Single Gene Mutation | 4 | 4 | ||
| SRCAP | Snf2 related CREBBP activator protein | 16 | Rare Single Gene Mutation | 1 | 5 | ||
| SRGAP3 | SLIT-ROBO Rho GTPase activating protein 3 | 3 | Rare Single Gene Mutation | 4 | 4 | ||
| SRRM4 | Serine/arginine repetitive matrix 4 | 12 | Rare Single Gene Mutation, Functional | 5 | 5 | ||
| SRSF11 | serine and arginine rich splicing factor 11 | 1 | Rare Single Gene Mutation | 2 | 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 | ||
| STAT1 | signal transducer and activator of transcription 1 | 2 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| 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 | ||
| STXBP1 | Syntaxin binding protein 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 36 | |
| STXBP5 | Syntaxin binding protein 5 (tomosyn) | 6 | Rare Single Gene Mutation | 3 | 6 | ||
| STYK1 | Serine/threonine/tyrosine kinase 1 | 12 | Genetic Association | 4 | 1 | ||
| SUCLG2 | succinate-CoA ligase, GDP-forming, beta subunit | 3 | Rare Single Gene Mutation | 6 | 4 | ||
| 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 | ||
| SYN3 | Synapsin III | 22 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| 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 | |
| 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 | ||
| TAF1L | TAF1 RNA polymerase II | 9 | Rare Single Gene Mutation | 6 | 3 | ||
| TAF6 | TATA-box binding protein associated factor 6 | 7 | Rare Single Gene Mutation | 3 | 2 | ||
| TANC2 | etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 17 | Rare Single Gene Mutation | 1 | 6 | ||
| TAOK2 | TAO kinase 2 | 16 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| TBC1D23 | TBC1 domain family member 23 | 3 | Syndromic | – | S | 2 | |
| TBC1D31 | TBC1 domain family, member 31 | 8 | Rare Single Gene Mutation | 3 | 3 | ||
| 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 | ||
| TBL1XR1 | transducin beta like 1 X-linked receptor 1 | 3 | Rare Single Gene Mutation, Syndromic | 2 | 18 | ||
| SEMA3F | semaphorin 3F | 3 | Functional | 5 | 1 | ||
| SERPINE1 | serpin family E member 1 | 7 | Genetic Association | 4 | 2 | ||
| SH3RF2 | SH3 domain containing ring finger 2 | 5 | Functional | 5 | 1 | ||
| SLC22A3 | solute carrier family 22 member 3 | 6 | Functional | 5 | 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 | ||
| SYNCRIP | synaptotagmin binding cytoplasmic RNA interacting protein | 6 | Rare Single Gene Mutation | 4 | 6 | ||
| SYT3 | synaptotagmin 3 | 19 | Rare Single Gene Mutation | 6 | 1 | ||
| TBC1D7 | TBC1 domain family member 7 | 6 | Rare Single Gene Mutation, Functional | 5 | 4 | ||
| TBR1 | T-box, brain, 1 | 2 | Rare Single Gene Mutation, Genetic Association | 1 | 24 | ||
| TBX1 | T-box 1 | 22 | Syndromic, Functional | 4 | 5 | ||
| 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 | |
| TCF7L2 | Transcription factor 7-like 2 (T-cell specific, HMG-box) | 10 | Rare Single Gene Mutation | 3 | 3 | ||
| TDO2 | tryptophan 2,3-dioxygenase | 4 | Genetic Association | 4 | 4 | ||
| TECTA | tectorin alpha | 11 | Rare Single Gene Mutation | 4 | 6 | ||
| TERF2 | Telomeric repeat binding factor 2 | 16 | Rare Single Gene Mutation | 3 | 3 | ||
| TERB2 | telomere repeat binding bouquet formation protein 2 | 15 | Rare Single Gene Mutation | 4 | 1 | ||
| TERT | telomerase reverse transcriptase | 5 | Rare Single Gene Mutation, Functional | 5 | 2 | ||
| TET2 | Tet methylcytosine dioxygenase 2 | 4 | Rare Single Gene Mutation | 3 | 4 | ||
| TGM3 | transglutaminase 3 | 20 | Rare Single Gene Mutation | 6 | 5 | ||
| THBS1 | Thrombospondin 1 | 15 | Rare Single Gene Mutation, Genetic Association | 4 | 3 | ||
| TLK2 | tousled-like kinase 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| TM4SF19 | transmembrane 4 L six family member 19 | 3 | Rare Single Gene Mutation | 4 | 3 | ||
| TMLHE | trimethyllysine hydroxylase, epsilon | X | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
| TNIP2 | TNFAIP3 interacting protein 2 | 4 | Rare Single Gene Mutation | 5 | 1 | ||
| TNRC6B | Trinucleotide repeat containing 6B | 22 | Rare Single Gene Mutation | 2 | 7 | ||
| 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 | ||
| TOP3B | Topoisomerase (DNA) III beta | 22 | Rare Single Gene Mutation, Genetic Association, Functional | 4 | 6 | ||
| TPH2 | tryptophan hydroxylase 2 | 12 | Rare Single Gene Mutation, Genetic Association | 6 | 12 | ||
| TPO | Thyroid peroxidase | 2 | Genetic Association | 4 | 1 | ||
| TRAPPC9 | trafficking protein particle complex 9 | 8 | Rare Single Gene Mutation, Syndromic | 3 | 13 | ||
| TRIM33 | Tripartite motif containing 33 | 1 | Genetic Association | 4 | 1 | ||
| 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 | |
| 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 | ||
| 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 | ||
| TSN | translin | 2 | Functional | 5 | 3 | ||
| 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 | ||
| TYR | tyrosinase | 11 | Rare Single Gene Mutation, Functional | 5 | 3 | ||
| UBA6 | Ubiquitin-like modifier activating enzyme 6 | 4 | Functional | 5 | 2 | ||
| UBE2H | ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) | 7 | Genetic Association | 4 | 2 | ||
| UBE3A | ubiquitin protein ligase E3A | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 27 | |
| UBE3B | ubiquitin protein ligase E3B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 5 | 6 | ||
| UBE3C | Ubiquitin protein ligase E3C | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| UBL7 | ubiquitin-like 7 (bone marrow stromal cell-derived) | 15 | Rare Single Gene Mutation | 6 | 1 | ||
| UBN2 | ubinuclein 2 | 7 | Rare Single Gene Mutation | 2 | 3 | ||
| UBR5 | ubiquitin protein ligase E3 component n-recognin 5 | 8 | Rare Single Gene Mutation | 3 | 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 | ||
| UNC13A | unc-13 homolog A | 19 | Rare Single Gene Mutation, Syndromic | 4 | S | 5 | |
| UNC79 | unc-79 homolog, NALCN channel complex subunit | 14 | Rare Single Gene Mutation | 3 | 3 | ||
| UNC80 | unc-80 homolog, NALCN activator | 2 | Rare Single Gene Mutation | 4 | 5 | ||
| 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 | ||
| UPF3B | UPF3B, regulator of nonsense mediated mRNA decay | X | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| TH | tyrosine hydroxylase | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 5 | 18 | ||
| 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 | ||
| USP15 | ubiquitin specific peptidase 15 | 12 | Rare Single Gene Mutation | 2 | 3 | ||
| USP45 | Ubiquitin specific peptidase 45 | 6 | Rare Single Gene Mutation | 3 | 2 | ||
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 7 | |
| USP9Y | ubiquitin specific peptidase 9, Y-linked | Y | Rare Single Gene Mutation, Genetic Association | 4 | 2 | ||
| VASH1 | vasohibin 1 | 14 | Genetic Association | 4 | 4 | ||
| VIL1 | Villin 1 | 2 | Rare Single Gene Mutation | 3 | 1 | ||
| VLDLR | Very low density lipoprotein receptor | 9 | Functional | 5 | 3 | ||
| VPS13B | vacuolar protein sorting 13 homolog B (yeast) | 8 | Rare Single Gene Mutation, Syndromic | 1 | S | 18 | |
| VRK3 | vaccinia related kinase 3 | 19 | Functional | 5 | 1 | ||
| VSIG4 | V-set and immunoglobulin domain containing 4 | X | Rare Single Gene Mutation | 4 | 2 | ||
| 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 | ||
| WDR93 | WD repeat domain 93 | 15 | Rare Single Gene Mutation | 5 | 1 | ||
| 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 | ||
| WNT2 | wingless-type MMTV integration site family member 2 | 7 | Rare Single Gene Mutation, Genetic Association | 5 | 10 | ||
| WWOX | WW domain containing oxidoreductase | 16 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| XIRP1 | xin actin-binding repeat containing 1 | 3 | Rare Single Gene Mutation | 6 | 7 | ||
| 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 | ||
| YY1 | YY1transcription factor | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 4 | |
| ZBTB16 | Zinc finger and BTB domain containing 16 | 11 | Genetic Association | 4 | 1 | ||
| ZBTB20 | Zinc finger and BTB domain containing 20 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 21 | |
| 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 | ||
| ZNF18 | zinc finger protein 18 | 17 | Rare Single Gene Mutation | 4 | 1 | ||
| ZNF292 | zinc finger protein 292 | 6 | Rare Single Gene Mutation | 1 | 4 | ||
| ZNF385B | Zinc finger protein 385B | 2 | Genetic Association | 4 | 2 | ||
| ZNF462 | Zinc finger protein 462 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| 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 | ||
| ZNF8 | Zinc finger protein 8 | 19 | Rare Single Gene Mutation | 5 | 1 | ||
| VDR | vitamin D receptor | 12 | Genetic Association, Functional | 4 | 7 | ||
| VIP | vasoactive intestinal peptide | 6 | Rare Single Gene Mutation, Functional | 5 | 6 | ||
| WASF1 | WAS protein family member 1 | 6 | Syndromic | – | S | 1 | |
| WDFY4 | WDFY family member 4 | 10 | Rare Single Gene Mutation | 3 | 5 | ||
| YEATS2 | YEATS domain containing 2 | 3 | Genetic Association | 4 | 1 | ||
| ZNF804A | Zinc finger protein 804A | 2 | Rare Single Gene Mutation, Genetic Association | 3 | 13 | ||
| ZNF827 | Zinc finger protein 827 | 4 | Genetic Association | 4 | 1 | ||
| ZSWIM5 | zinc finger, SWIM-type containing 5 | 1 | Rare Single Gene Mutation | 6 | 1 | ||
| ZWILCH | zwilchkinetochore protein | 15 | Rare Single Gene Mutation | 4 | 3 |