abnormality of the middle ear Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the middle ear. (Human Phenotype Ontology, HP_0000370)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000370
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Genes

673 genes associated with the abnormality of the middle ear 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
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACP5 acid phosphatase 5, tartrate resistant
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
AGA aspartylglucosaminidase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AK2 adenylate kinase 2
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASCL1 achaete-scute family bHLH transcription factor 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
BCAP31 B-cell receptor-associated protein 31
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BEAN1 brain expressed, associated with NEDD4, 1
BEST1 bestrophin 1
BLNK B-cell linker
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
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
C21ORF59 chromosome 21 open reading frame 59
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASQ2 calsequestrin 2 (cardiac muscle)
CATSPER2 cation channel, sperm associated 2
CCBE1 collagen and calcium binding EGF domains 1
CCDC114 coiled-coil domain containing 114
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC50 coiled-coil domain containing 50
CCDC65 coiled-coil domain containing 65
CD151 CD151 molecule (Raph blood group)
CD19 CD19 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CECR1 cat eye syndrome chromosome region, candidate 1
CERKL ceramide kinase-like
CFI complement factor I
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHSY1 chondroitin sulfate synthase 1
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
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
COA5 cytochrome c oxidase assembly factor 5
COCH cochlin
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
COL3A1 collagen, type III, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A5 collagen, type IV, alpha 5
COL4A6 collagen, type IV, alpha 6
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
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)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
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)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCAF17 DDB1 and CUL4 associated factor 17
DCHS1 dachsous cadherin-related 1
DCLRE1C DNA cross-link repair 1C
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
DLX5 distal-less homeobox 5
DMD dystrophin
DMP1 dentin matrix acidic phosphoprotein 1
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DNASE1L3 deoxyribonuclease I-like 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOCK8 dedicator of cytokinesis 8
DOLK dolichol kinase
DRC1 dynein regulatory complex subunit 1
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
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
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
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBXW4 F-box and WD repeat domain containing 4
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
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
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
FTO fat mass and obesity associated
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALE UDP-galactose-4-epimerase
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
GCDH glutaryl-CoA dehydrogenase
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GFER growth factor, augmenter of liver regeneration
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
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLI3 GLI family zinc finger 3
GLYCTK glycerate kinase
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPSM2 G-protein signaling modulator 2
GRHL2 grainyhead-like 2 (Drosophila)
GRIP1 glutamate receptor interacting protein 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)
HARS histidyl-tRNA synthetase
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
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
HYAL1 hyaluronoglucosaminidase 1
HYDIN HYDIN, axonemal central pair apparatus protein
ICOS inducible T-cell co-stimulator
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
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
IRX5 iroquois homeobox 5
JAGN1 jagunal homolog 1 (Drosophila)
JAK2 Janus kinase 2
JUP junction plakoglobin
KAT6B K(lysine) acetyltransferase 6B
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LAMA4 laminin, alpha 4
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LDB3 LIM domain binding 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHFPL5 lipoma HMGIC fusion partner-like 5
LHX3 LIM homeobox 3
LIMK1 LIM domain kinase 1
LIPN lipase, family member N
LMX1B LIM homeobox transcription factor 1, beta
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRRC6 leucine rich repeat containing 6
LRRC8A leucine rich repeat containing 8 family, member A
MAK male germ cell-associated kinase
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPK1 mitogen-activated protein kinase 1
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
MEFV Mediterranean fever
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
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
MPZ myelin protein zero
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
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
MVK mevalonate kinase
MYBPC3 myosin binding protein C, cardiac
MYD88 myeloid differentiation primary response 88
MYH14 myosin, heavy chain 14, non-muscle
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
MYO6 myosin VI
MYO7A myosin VIIA
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
NDP Norrie disease (pseudoglioma)
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)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
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
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH2 notch 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NRL neural retina leucine zipper
NRTN neurturin
NSD1 nuclear receptor binding SET domain protein 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NUBPL nucleotide binding protein-like
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPA1 optic atrophy 1 (autosomal dominant)
ORC1 origin recognition complex, subunit 1
OTOA otoancorin
OTOF otoferlin
OTOGL otogelin-like
OTX2 orthodenticle homeobox 2
PAX1 paired box 1
PAX2 paired box 2
PAX3 paired box 3
PCDH15 protocadherin-related 15
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDGFB platelet-derived growth factor beta polypeptide
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
PHOX2B paired-like homeobox 2b
PHYH phytanoyl-CoA 2-hydroxylase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLG plasminogen
PLN phospholamban
PMP22 peripheral myelin protein 22
PNP purine nucleoside phosphorylase
PNPLA2 patatin-like phospholipase domain containing 2
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
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKCD protein kinase C, delta
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
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPRC protein tyrosine phosphatase, receptor type, C
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)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RBM20 RNA binding motif protein 20
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
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
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
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
RYR2 ryanodine receptor 2 (cardiac)
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
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
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
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SH2B3 SH2B adaptor protein 3
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
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
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
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
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
SLITRK6 SLIT and NTRK-like family, member 6
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)
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPAG1 sperm associated antigen 1
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
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STRC stereocilin
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
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
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
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
TCAP titin-cap
TCF3 transcription factor 3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TECTA tectorin alpha
TET2 tet methylcytosine dioxygenase 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGM1 transglutaminase 1
THPO thrombopoietin
THRB thyroid hormone receptor, beta
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TLR4 toll-like receptor 4
TMC1 transmembrane channel-like 1
TMPO thymopoietin
TMPRSS3 transmembrane protease, serine 3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TPK1 thiamin pyrophosphokinase 1
TPM1 tropomyosin 1 (alpha)
TPRN taperin
TRDN triadin
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
TTC8 tetratricopeptide repeat domain 8
TTN titin
TUB tubby bipartite transcription factor
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)
UNC119 unc-119 homolog (C. elegans)
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)
WAS Wiskott-Aldrich syndrome
WDR11 WD repeat domain 11
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WIPF1 WAS/WASL interacting protein family, member 1
WNT10B wingless-type MMTV integration site family, member 10B
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
ZMYND10 zinc finger, MYND-type containing 10
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513