abnormality of coordination Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011443
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Genes

504 genes associated with the abnormality of coordination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACO2 aconitase 2, mitochondrial
ACTA1 actin, alpha 1, skeletal muscle
ADCK3 aarF domain containing kinase 3
ADGRG1 adhesion G protein-coupled receptor G1
ADGRV1 adhesion G protein-coupled receptor V1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMACR alpha-methylacyl-CoA racemase
ANO10 anoctamin 10
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APOB apolipoprotein B
APTX aprataxin
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATCAY ataxia, cerebellar, Cayman type
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP10A ATPase, class V, type 10A
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8 ataxin 8
ATXN8OS ATXN8 opposite strand (non-protein coding)
AUH AU RNA binding protein/enoyl-CoA hydratase
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEAN1 brain expressed, associated with NEDD4, 1
BMP15 bone morphogenetic protein 15
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
CA8 carbonic anhydrase VIII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAMTA1 calmodulin binding transcription activator 1
CAPN3 calpain 3, (p94)
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CDH23 cadherin-related 23
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD7 chromodomain helicase DNA binding protein 7
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLCN2 chloride channel, voltage-sensitive 2
CLIP2 CAP-GLY domain containing linker protein 2
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
COA5 cytochrome c oxidase assembly factor 5
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COL18A1 collagen, type XVIII, alpha 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CREBBP CREB binding protein
CSPP1 centrosome and spindle pole associated protein 1
CSTB cystatin B (stefin B)
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTSD cathepsin D
CTSF cathepsin F
CUL4B cullin 4B
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBT dihydrolipoamide branched chain transacylase E2
DCX doublecortin
DFNB31 deafness, autosomal recessive 31
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DUSP6 dual specificity phosphatase 6
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDNRB endothelin receptor type B
EEF2 eukaryotic translation elongation factor 2
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ELOVL5 ELOVL fatty acid elongase 5
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERLIN2 ER lipid raft associated 2
ETHE1 ethylmalonic encephalopathy 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FEZF1 FEZ family zinc finger 1
FGF14 fibroblast growth factor 14
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FOXI1 forkhead box I1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FSHR follicle stimulating hormone receptor
FTL ferritin, light polypeptide
FXN frataxin
GALT galactose-1-phosphate uridylyltransferase
GAMT guanidinoacetate N-methyltransferase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCH1 GTP cyclohydrolase 1
GFAP glial fibrillary acidic protein
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GOSR2 golgi SNAP receptor complex member 2
GPHN gephyrin
GPI glucose-6-phosphate isomerase
GRM1 glutamate receptor, metabotropic 1
GRN granulin
GSS glutathione synthetase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HARS histidyl-tRNA synthetase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HIC1 hypermethylated in cancer 1
HLA-B major histocompatibility complex, class I, B
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTRA1 HtrA serine peptidase 1
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
IQCB1 IQ motif containing B1
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCTD7 potassium channel tetramerization domain containing 7
KIF1A kinesin family member 1A
KIF1C kinesin family member 1C
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LMBRD1 LMBR1 domain containing 1
LMNB1 lamin B1
LRPPRC leucine-rich pentatricopeptide repeat containing
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MBD5 methyl-CpG binding domain protein 5
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MFSD8 major facilitator superfamily domain containing 8
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TP tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTTP microsomal triglyceride transfer protein
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
NAT8L N-acetyltransferase 8-like (GCN5-related, putative)
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEB nebulin
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NKX2-1 NK2 homeobox 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP56 NOP56 ribonucleoprotein
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSD1 nuclear receptor binding SET domain protein 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTNG1 netrin G1
NUBPL nucleotide binding protein-like
OCA2 oculocutaneous albinism II
OFD1 oral-facial-digital syndrome 1
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPHN1 oligophrenin 1
OTC ornithine carbamoyltransferase
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PANK2 pantothenate kinase 2
PAX6 paired box 6
PCDH15 protocadherin-related 15
PCNA proliferating cell nuclear antigen
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE8B phosphodiesterase 8B
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDYN prodynorphin
PDZD7 PDZ domain containing 7
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PHYH phytanoyl-CoA 2-hydroxylase
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PNKP polynucleotide kinase 3'-phosphatase
PNP purine nucleoside phosphorylase
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPT1 palmitoyl-protein thioesterase 1
PRF1 perforin 1 (pore forming protein)
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PSAP prosaposin
PSMC3IP PSMC3 interacting protein
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTS 6-pyruvoyltetrahydropterin synthase
RAD50 RAD50 homolog (S. cerevisiae)
RFC2 replication factor C (activator 1) 2, 40kDa
RNASET2 ribonuclease T2
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF216 ring finger protein 216
RNR1 RNA, ribosomal cluster 1
ROGDI rogdi homolog (Drosophila)
RPGRIP1L RPGRIP1-like
RPIA ribose 5-phosphate isomerase A
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTEL1 regulator of telomere elongation helicase 1
SACS sacsin molecular chaperone
SCARB2 scavenger receptor class B, member 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETX senataxin
SFXN4 sideroflexin 4
SIL1 SIL1 nucleotide exchange factor
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD4 SMAD family member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRY4 sprouty homolog 4 (Drosophila)
SPTBN2 spectrin, beta, non-erythrocytic 2
STAT4 signal transducer and activator of transcription 4
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYT14 synaptotagmin XIV
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACR3 tachykinin receptor 3
TAT tyrosine aminotransferase
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TCF4 transcription factor 4
TCN2 transcobalamin II
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TDP1 tyrosyl-DNA phosphodiesterase 1
TECPR2 tectonin beta-propeller repeat containing 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
TGM6 transglutaminase 6
TH tyrosine hydroxylase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TPK1 thiamin pyrophosphokinase 1
TPP1 tripeptidyl peptidase I
TRAPPC11 trafficking protein particle complex 11
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRNE
TSFM Ts translation elongation factor, mitochondrial
TTBK2 tau tubulin kinase 2
TTC19 tetratricopeptide repeat domain 19
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBA1A tubulin, alpha 1a
TUBB tubulin, beta class I
TUBB4A tubulin, beta 4A class IVa
UBE3A ubiquitin protein ligase E3A
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
UROC1 urocanate hydratase 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VARS2 valyl-tRNA synthetase 2, mitochondrial
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VRK1 vaccinia related kinase 1
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZFP90 ZFP90 zinc finger protein
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF423 zinc finger protein 423
ZNF592 zinc finger protein 592