growth abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001507
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Genes

1275 genes associated with the growth 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
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AASS aminoadipate-semialdehyde synthase
ABAT 4-aminobutyrate aminotransferase
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACACA acetyl-CoA carboxylase alpha
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACAN aggrecan
ACO2 aconitase 2, mitochondrial
ACP5 acid phosphatase 5, tartrate resistant
ACSF3 acyl-CoA synthetase family member 3
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
ADA adenosine deaminase
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADAMTSL4 ADAMTS-like 4
ADAT3 adenosine deaminase, tRNA-specific 3
ADK adenosine kinase
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGPS alkylglycerone phosphate synthase
AHCY adenosylhomocysteinase
AHDC1 AT hook, DNA binding motif, containing 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIP aryl hydrocarbon receptor interacting protein
AK2 adenylate kinase 2
AKR1D1 aldo-keto reductase family 1, member D1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALPL alkaline phosphatase, liver/bone/kidney
ALX4 ALX homeobox 4
AMACR alpha-methylacyl-CoA racemase
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APOE apolipoprotein E
AQP2 aquaporin 2 (collecting duct)
AR androgen receptor
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARG1 arginase 1
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
ARMC5 armadillo repeat containing 5
ARSB arylsulfatase B
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASS1 argininosuccinate synthase 1
ASXL1 additional sex combs like transcriptional regulator 1
ATM ATM serine/threonine kinase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUH AU RNA binding protein/enoyl-CoA hydratase
AVP arginine vasopressin
AVPR2 arginine vasopressin receptor 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAAT bile acid CoA:amino acid N-acyltransferase
BANF1 barrier to autointegration factor 1
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
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BCOR BCL6 corepressor
BCR breakpoint cluster region
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BIRC3 baculoviral IAP repeat containing 3
BLK BLK proto-oncogene, Src family tyrosine kinase
BLM Bloom syndrome, RecQ helicase-like
BMP1 bone morphogenetic protein 1
BMP15 bone morphogenetic protein 15
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMPR1A bone morphogenetic protein receptor, type IA
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF65 chromosome 12 open reading frame 65
C15ORF41 chromosome 15 open reading frame 41
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA12 carbonic anhydrase XII
CA2 carbonic anhydrase II
CA4 carbonic anhydrase IV
CA8 carbonic anhydrase VIII
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CCND1 cyclin D1
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD96 CD96 molecule
CDAN1 codanin 1
CDC6 cell division cycle 6
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDSN corneodesmosin
CDT1 chromatin licensing and DNA replication factor 1
CENPJ centromere protein J
CEP126 centrosomal protein 126kDa
CEP152 centrosomal protein 152kDa
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CEP63 centrosomal protein 63kDa
CERKL ceramide kinase-like
CERS3 ceramide synthase 3
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CIITA class II, major histocompatibility complex, transactivator
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLIP2 CAP-GLY domain containing linker protein 2
CLMP CXADR-like membrane protein
CLP1 cleavage and polyadenylation factor I subunit 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN1 contactin 1
CNTN4 contactin 4
COA5 cytochrome c oxidase assembly factor 5
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
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
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
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
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
COX7B cytochrome c oxidase subunit VIIb
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRTAP cartilage associated protein
CRX cone-rod homeobox
CTC1 CTS telomere maintenance complex component 1
CTCF CCCTC-binding factor (zinc finger protein)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSH cathepsin H
CTSK cathepsin K
CUL4B cullin 4B
CUL7 cullin 7
CYB5R3 cytochrome b5 reductase 3
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DBT dihydrolipoamide branched chain transacylase E2
DCHS1 dachsous cadherin-related 1
DCLRE1C DNA cross-link repair 1C
DCTN1 dynactin 1
DCX doublecortin
DDHD2 DDHD domain containing 2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DDR2 discoidin domain receptor tyrosine kinase 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DNA2 DNA replication helicase/nuclease 2
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNM1L dynamin 1-like
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOK7 docking protein 7
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPP6 dipeptidyl-peptidase 6
DPYD dihydropyrimidine dehydrogenase
DPYS dihydropyrimidinase
DSG1 desmoglein 1
DSP desmoplakin
DST dystonin
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DUSP6 dual specificity phosphatase 6
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EBP emopamil binding protein (sterol isomerase)
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
ELAC2 elaC ribonuclease Z 2
ELANE elastase, neutrophil expressed
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPCAM epithelial cell adhesion molecule
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETHE1 ethylmalonic encephalopathy 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EWSR1 EWS RNA-binding protein 1
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F5 coagulation factor V (proaccelerin, labile factor)
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAM111B family with sequence similarity 111, member B
FAM161A family with sequence similarity 161, member A
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FAM58A family with sequence similarity 58, member A
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
FBN2 fibrillin 2
FBXL4 F-box and leucine-rich repeat protein 4
FERMT1 fermitin family member 1
FEZF1 FEZ family zinc finger 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF17 fibroblast growth factor 17
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FMR1 fragile X mental retardation 1
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FOXP1 forkhead box P1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FSCN2 fascin actin-bundling protein 2, retinal
FSHR follicle stimulating hormone receptor
FTCD formimidoyltransferase cyclodeaminase
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GALE UDP-galactose-4-epimerase
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GCM2 glial cells missing homolog 2 (Drosophila)
GDF1 growth differentiation factor 1
GDF5 growth differentiation factor 5
GDNF glial cell derived neurotrophic factor
GFM1 G elongation factor, mitochondrial 1
GH1 growth hormone 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GHSR growth hormone secretagogue receptor
GJA5 gap junction protein, alpha 5, 40kDa
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
GK glycerol kinase
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLIS3 GLIS family zinc finger 3
GLYCTK glycerate kinase
GMPPA GDP-mannose pyrophosphorylase A
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GPX4 glutathione peroxidase 4
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRM1 glutamate receptor, metabotropic 1
GSC goosecoid homeobox
GTF2H5 general transcription factor IIH, polypeptide 5
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
H19 H19, imprinted maternally expressed transcript (non-protein coding)
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HCRT hypocretin (orexin) neuropeptide precursor
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HMGA2 high mobility group AT-hook 2
HMGB3 high mobility group box 3
HMOX1 heme oxygenase 1
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HPD 4-hydroxyphenylpyruvate dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFITM5 interferon induced transmembrane protein 5
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL21 interleukin 21
IL21R interleukin 21 receptor
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IMPAD1 inositol monophosphatase domain containing 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSR insulin receptor
INVS inversin
IQCB1 IQ motif containing B1
IRF8 interferon regulatory factor 8
IYD iodotyrosine deiodinase
JAG1 jagged 1
JAGN1 jagunal homolog 1 (Drosophila)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JPH3 junctophilin 3
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA1033 KIAA1033
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLF1 Kruppel-like factor 1 (erythroid)
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT5 keratin 5, type II
L1CAM L1 cell adhesion molecule
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LBR lamin B receptor
LCK LCK proto-oncogene, Src family tyrosine kinase
LEMD3 LEM domain containing 3
LEP leptin
LEPR leptin receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LINS lines homolog (Drosophila)
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPN lipase, family member N
LMBR1 limb development membrane protein 1
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LPIN2 lipin 2
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LTBP2 latent transforming growth factor beta binding protein 2
LTBP3 latent transforming growth factor beta binding protein 3
LTC4S leukotriene C4 synthase
LYRM4 LYR motif containing 4
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAK male germ cell-associated kinase
MALT1 MALT1 paracaspase
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MATN3 matrilin 3
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MC4R melanocortin 4 receptor
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCEE methylmalonyl CoA epimerase
MCM4 minichromosome maintenance complex component 4
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED17 mediator complex subunit 17
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MIR17HG miR-17-92 cluster host gene
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MLX MLX, MAX dimerization protein
MLYCD malonyl-CoA decarboxylase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MNX1 motor neuron and pancreas homeobox 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MOG myelin oligodendrocyte glycoprotein
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MPLKIP M-phase specific PLK1 interacting protein
MPST mercaptopyruvate sulfurtransferase
MPV17 MpV17 mitochondrial inner membrane protein
MRPL3 mitochondrial ribosomal protein L3
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
MTM1 myotubularin 1
MTO1 mitochondrial tRNA translation optimization 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYO5B myosin VB
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGS N-acetylglutamate synthase
NALCN sodium leak channel, non selective
NBAS neuroblastoma amplified sequence
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
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
NEB nebulin
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NEUROG3 neurogenin 3
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFU1 NFU1 iron-sulfur cluster scaffold
NHP2 NHP2 ribonucleoprotein
NIN ninein (GSK3B interacting protein)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NKX3-2 NK3 homeobox 2
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NNT nicotinamide nucleotide transhydrogenase
NOD2 nucleotide-binding oligomerization domain containing 2
NODAL nodal growth differentiation factor
NOG noggin
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPR2 natriuretic peptide receptor 2
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR3C2 nuclear receptor subfamily 3, group C, member 2
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
NTNG1 netrin G1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUBPL nucleotide binding protein-like
NUP62 nucleoporin 62kDa
OBSL1 obscurin-like 1
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
ORAI1 ORAI calcium release-activated calcium modulator 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTC ornithine carbamoyltransferase
OTX2 orthodenticle homeobox 2
P2RY11 purinergic receptor P2Y, G-protein coupled, 11
P3H1 prolyl 3-hydroxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX1 paired box 1
PAX6 paired box 6
PAX8 paired box 8
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCNT pericentrin
PCSK1 proprotein convertase subtilisin/kexin type 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDX1 pancreatic and duodenal homeobox 1
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
PGAP3 post-GPI attachment to proteins 3
PGM1 phosphoglucomutase 1
PHC1 polyhomeotic homolog 1 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PHOX2B paired-like homeobox 2b
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKLR pyruvate kinase, liver and RBC
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNP purine nucleoside phosphorylase
PNPLA1 patatin-like phospholipase domain containing 1
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
PNPT1 polyribonucleotide nucleotidyltransferase 1
POC1A POC1 centriolar protein A
POF1B premature ovarian failure, 1B
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMC proopiomelanocortin
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
POU6F2 POU class 6 homeobox 2
PPARG peroxisome proliferator-activated receptor gamma
PPIB peptidylprolyl isomerase B (cyclophilin B)
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROP1 PROP paired-like homeobox 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
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PSPH phosphoserine phosphatase
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTRF polymerase I and transcript release factor
PTS 6-pyruvoyltetrahydropterin synthase
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
PYGL phosphorylase, glycogen, liver
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM10 RNA binding motif protein 10
RBM28 RNA binding motif protein 28
RBM8A RNA binding motif protein 8A
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFX6 regulatory factor X, 6
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RGR retinal G protein coupled receptor
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNF216 ring finger protein 216
RNR1 RNA, ribosomal cluster 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROGDI rogdi homolog (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
RPGRIP1L RPGRIP1-like
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
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
SAR1B secretion associated, Ras related GTPase 1B
SARS2 seryl-tRNA synthetase 2, mitochondrial
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
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
SEC23A Sec23 homolog A (S. cerevisiae)
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
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPN1 selenoprotein N, 1
SEPT9 septin 9
SERAC1 serine active site containing 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFTPB surfactant protein B
SFTPC surfactant protein C
SFXN4 sideroflexin 4
SGSH N-sulfoglucosamine sulfohydrolase
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SHROOM4 shroom family member 4
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC7A14 solute carrier family 7, member 14
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
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
SMOC1 SPARC related modular calcium binding 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNAP29 synaptosomal-associated protein, 29kDa
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
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
SP7 Sp7 transcription factor
SPATA7 spermatogenesis associated 7
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPINK5 serine peptidase inhibitor, Kazal type 5
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRY4 sprouty homolog 4 (Drosophila)
SRCAP Snf2-related CREBBP activator protein
SRY sex determining region Y
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAC3 SH3 and cysteine rich domain 3
STAMBP STAM binding protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STAT5B signal transducer and activator of transcription 5B
STEAP3 STEAP family member 3, metalloreductase
STIM1 stromal interaction molecule 1
STRA6 stimulated by retinoic acid 6
STS steroid sulfatase (microsomal), isozyme S
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STX16 syntaxin 16
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
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TACR3 tachykinin receptor 3
TAT tyrosine aminotransferase
TAZ tafazzin
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX2 T-box 2
TBX22 T-box 22
TBX3 T-box 3
TBX4 T-box 4
TBX6 T-box 6
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCN2 transcobalamin II
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
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)
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
THPO thrombopoietin
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TLR4 toll-like receptor 4
TMCO1 transmembrane and coiled-coil domains 1
TMEM165 transmembrane protein 165
TMEM173 transmembrane protein 173
TMEM216 transmembrane protein 216
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TMPRSS15 transmembrane protease, serine 15
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPO thyroid peroxidase
TRAC T cell receptor alpha constant
TRAPPC11 trafficking protein particle complex 11
TRAPPC2 trafficking protein particle complex 2
TRAPPC9 trafficking protein particle complex 9
TRH thyrotropin-releasing hormone
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TSPYL1 TSPY-like 1
TTC21B tetratricopeptide repeat domain 21B
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TUB tubby bipartite transcription factor
TUBB4A tubulin, beta 4A class IVa
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TYMP thymidine phosphorylase
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UROC1 urocanate hydratase 1
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
USP9X ubiquitin specific peptidase 9, X-linked
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VSX1 visual system homeobox 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR81 WD repeat domain 81
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB16 zinc finger and BTB domain containing 16
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZFP57 ZFP57 zinc finger protein
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335
ZNF365 zinc finger protein 365
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592