hearing abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the sensory perception of sound. (Human Phenotype Ontology, HP_0000364)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000364
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTB actin, beta
ACTC1 actin, alpha, cardiac muscle 1
ACTG1 actin gamma 1
ACTN2 actinin, alpha 2
ACVR1 activin A receptor, type I
ACY1 aminoacylase 1
ADAMTSL2 ADAMTS-like 2
ADCY1 adenylate cyclase 1 (brain)
ADGRV1 adhesion G protein-coupled receptor V1
ADK adenosine kinase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AK2 adenylate kinase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASCL1 achaete-scute family bHLH transcription factor 1
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
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
BCAP31 B-cell receptor-associated protein 31
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEAN1 brain expressed, associated with NEDD4, 1
BEST1 bestrophin 1
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C10ORF2 chromosome 10 open reading frame 2
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CATSPER2 cation channel, sperm associated 2
CCBE1 collagen and calcium binding EGF domains 1
CCDC50 coiled-coil domain containing 50
CD151 CD151 molecule (Raph blood group)
CDC6 cell division cycle 6
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDT1 chromatin licensing and DNA replication factor 1
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CERS3 ceramide synthase 3
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN14 claudin 14
CLIP2 CAP-GLY domain containing linker protein 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN4 contactin 4
COA5 cytochrome c oxidase assembly factor 5
COCH cochlin
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL7A1 collagen, type VII, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COQ6 coenzyme Q6 monooxygenase
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)
COX7B cytochrome c oxidase subunit VIIb
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRX cone-rod homeobox
CRYAB crystallin, alpha B
CSPP1 centrosome and spindle pole associated protein 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSA cathepsin A
DCAF17 DDB1 and CUL4 associated factor 17
DCHS1 dachsous cadherin-related 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DES desmin
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DFNB59 deafness, autosomal recessive 59
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DIABLO diablo, IAP-binding mitochondrial protein
DIAPH1 diaphanous-related formin 1
DIAPH3 diaphanous-related formin 3
DKC1 dyskeratosis congenita 1, dyskerin
DLX5 distal-less homeobox 5
DMD dystrophin
DMP1 dentin matrix acidic phosphoprotein 1
DNAAF3 dynein, axonemal, assembly factor 3
DNAI1 dynein, axonemal, intermediate chain 1
DNASE1L3 deoxyribonuclease I-like 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOLK dolichol kinase
DSG2 desmoglein 2
DSPP dentin sialophosphoprotein
DUSP6 dual specificity phosphatase 6
DUX4 double homeobox 4
EBP emopamil binding protein (sterol isomerase)
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELAC2 elaC ribonuclease Z 2
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ESPN espin
ESRRB estrogen-related receptor beta
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
EYA4 EYA transcriptional coactivator and phosphatase 4
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXW4 F-box and WD repeat domain containing 4
FERMT1 fermitin family member 1
FEZF1 FEZ family zinc finger 1
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF3 fibroblast growth factor 3
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP14 FK506 binding protein 14, 22 kDa
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOXC1 forkhead box C1
FOXI1 forkhead box I1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FRG1 FSHD region gene 1
FSCN2 fascin actin-bundling protein 2, retinal
FSHR follicle stimulating hormone receptor
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GATAD1 GATA zinc finger domain containing 1
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GFER growth factor, augmenter of liver regeneration
GIPC3 GIPC PDZ domain containing family, member 3
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GLYCTK glycerate kinase
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPSM2 G-protein signaling modulator 2
GRHL2 grainyhead-like 2 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
GRXCR1 glutaredoxin, cysteine rich 1
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
HARS histidyl-tRNA synthetase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HGD homogentisate 1,2-dioxygenase
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIRA histone cell cycle regulator
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HNF1B HNF1 homeobox B
HOXA1 homeobox A1
HOXA11 homeobox A11
HOXA2 homeobox A2
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17RD interleukin 17 receptor D
ILDR1 immunoglobulin-like domain containing receptor 1
IMPAD1 inositol monophosphatase domain containing 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INSR insulin receptor
IQCB1 IQ motif containing B1
IRX5 iroquois homeobox 5
ITM2B integral membrane protein 2B
JAK2 Janus kinase 2
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA4 laminin, alpha 4
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LCA5 Leber congenital amaurosis 5
LDB3 LIM domain binding 3
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHFPL5 lipoma HMGIC fusion partner-like 5
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMNB1 lamin B1
LMNB2 lamin B2
LMX1B LIM homeobox transcription factor 1, beta
LOXHD1 lipoxygenase homology domains 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
LZTFL1 leucine zipper transcription factor-like 1
MAK male germ cell-associated kinase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAPK1 mitogen-activated protein kinase 1
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MARVELD2 MARVEL domain containing 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MPZ myelin protein zero
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
MYBPC3 myosin binding protein C, cardiac
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYH14 myosin, heavy chain 14, non-muscle
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
MYO15A myosin XVA
MYO1A myosin IA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NBN nibrin
ND1
NDP Norrie disease (pseudoglioma)
NDRG1 N-myc downstream regulated 1
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
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NF2 neurofibromin 2 (merlin)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NRTN neurturin
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUBPL nucleotide binding protein-like
OFD1 oral-facial-digital syndrome 1
OPA1 optic atrophy 1 (autosomal dominant)
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTOA otoancorin
OTOF otoferlin
OTX2 orthodenticle homeobox 2
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
PALB2 partner and localizer of BRCA2
PAX1 paired box 1
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PCDH15 protocadherin-related 15
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDZD7 PDZ domain containing 7
PEPD peptidase D
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
PGM3 phosphoglucomutase 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHOX2B paired-like homeobox 2b
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLN phospholamban
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNPLA1 patatin-like phospholipase domain containing 1
PNPLA2 patatin-like phospholipase domain containing 2
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMK protein-O-mannose kinase
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRRX1 paired related homeobox 1
PRTN3 proteinase 3
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRQ protein tyrosine phosphatase, receptor type, Q
RAB23 RAB23, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RBM20 RNA binding motif protein 20
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDX radixin
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASET2 ribonuclease T2
RNR1 RNA, ribosomal cluster 1
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SERAC1 serine active site containing 1
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC7A14 solute carrier family 7, member 14
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLITRK6 SLIT and NTRK-like family, member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMPX small muscle protein, X-linked
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SPATA7 spermatogenesis associated 7
SPRY4 sprouty homolog 4 (Drosophila)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SQSTM1 sequestosome 1
SRCAP Snf2-related CREBBP activator protein
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STRC stereocilin
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACR3 tachykinin receptor 3
TAZ tafazzin
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX22 T-box 22
TBX4 T-box 4
TBX6 T-box 6
TCAP titin-cap
TCF12 transcription factor 12
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TECTA tectorin alpha
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TGM1 transglutaminase 1
THRB thyroid hormone receptor, beta
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TK2 thymidine kinase 2, mitochondrial
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPO thymopoietin
TMPRSS3 transmembrane protease, serine 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TPRN taperin
TRIM32 tripartite motif containing 32
TRIOBP TRIO and F-actin binding protein
TRNE
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSPEAR thrombospondin-type laminin G domain and EAR repeats
TTC19 tetratricopeptide repeat domain 19
TTC8 tetratricopeptide repeat domain 8
TTN titin
TTR transthyretin
TUB tubby bipartite transcription factor
TUBB4A tubulin, beta 4A class IVa
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TXNRD2 thioredoxin reductase 2
TYMP thymidine phosphorylase
TYR tyrosinase
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
USB1 U6 snRNA biogenesis 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCL vinculin
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XPA xeroderma pigmentosum, complementation group A
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
YAP1 Yes-associated protein 1
ZBTB20 zinc finger and BTB domain containing 20
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513