abnormality of the lower limb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the leg. (Human Phenotype Ontology, HP_0002814)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002814
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Genes

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

Symbol Name
AARS alanyl-tRNA synthetase
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD12 abhydrolase domain containing 12
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ADCK3 aarF domain containing kinase 3
ADGRG1 adhesion G protein-coupled receptor G1
ADK adenosine kinase
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGPS alkylglycerone phosphate synthase
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMER1 APC membrane recruitment protein 1
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANO10 anoctamin 10
ANO5 anoctamin 5
ANOS1 anosmin 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APTX aprataxin
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATL3 atlastin GTPase 3
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN3 ataxin 3
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GNT1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BCR breakpoint cluster region
BHLHA9 basic helix-loop-helix family, member a9
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRWD3 bromodomain and WD repeat domain containing 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C5ORF42 chromosome 5 open reading frame 42
CA2 carbonic anhydrase II
CANT1 calcium activated nucleotidase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
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
CCR6 chemokine (C-C motif) receptor 6
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD96 CD96 molecule
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
CHRM3 cholinergic receptor, muscarinic 3
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
CHUK conserved helix-loop-helix ubiquitous kinase
CLCF1 cardiotrophin-like cytokine factor 1
CLCN1 chloride channel, voltage-sensitive 1
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COASY CoA synthase
COG1 component of oligomeric golgi complex 1
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, 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
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRTAP cartilage associated protein
CRYAB crystallin, alpha B
CSPP1 centrosome and spindle pole associated protein 1
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTGF connective tissue growth factor
CTNS cystinosin, lysosomal cystine transporter
CTSC cathepsin C
CTSK cathepsin K
CUL4B cullin 4B
CUL7 cullin 7
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCAF8 DDB1 and CUL4 associated factor 8
DCHS1 dachsous cadherin-related 1
DDHD1 DDHD domain containing 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DES desmin
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLX5 distal-less homeobox 5
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNM2 dynamin 2
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPYS dihydropyrimidinase
DSE dermatan sulfate epimerase
DSP desmoplakin
DST dystonin
DUSP6 dual specificity phosphatase 6
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
DYSF dysferlin
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
EGR2 early growth response 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
ELN elastin
EMD emerin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EP300 E1A binding protein p300
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
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
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FA2H fatty acid 2-hydroxylase
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
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
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBN1 fibrillin 1
FBN2 fibrillin 2
FBXL4 F-box and leucine-rich repeat protein 4
FBXO38 F-box protein 38
FBXO7 F-box protein 7
FERMT1 fermitin family member 1
FEZF1 FEZ family zinc finger 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF10 fibroblast growth factor 10
FGF14 fibroblast growth factor 14
FGF17 fibroblast growth factor 17
FGF20 fibroblast growth factor 20
FGF23 fibroblast growth factor 23
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
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FLNC filamin C, gamma
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FNBP4 formin binding protein 4
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPHN gephyrin
GRIP1 glutamate receptor interacting protein 1
GRM1 glutamate receptor, metabotropic 1
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HGD homogentisate 1,2-dioxygenase
HINT1 histidine triad nucleotide binding protein 1
HIRA histone cell cycle regulator
HK1 hexokinase 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD10 homeobox D10
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
IL11RA interleukin 11 receptor, alpha
IL17RD interleukin 17 receptor D
IMPAD1 inositol monophosphatase domain containing 1
INF2 inverted formin, FH2 and WH2 domain containing
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
IRF5 interferon regulatory factor 5
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
ISPD isoprenoid synthase domain containing
ITGA8 integrin, alpha 8
ITGB4 integrin, beta 4
KANSL1 KAT8 regulatory NSL complex subunit 1
KARS lysyl-tRNA synthetase
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA0319L KIAA0319-like
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF22 kinesin family member 22
KIF5A kinesin family member 5A
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LBR lamin B receptor
LDB3 LIM domain binding 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LITAF lipopolysaccharide-induced TNF factor
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LTBP2 latent transforming growth factor beta binding protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
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
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
METTL23 methyltransferase like 23
MFN2 mitofusin 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
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
MPST mercaptopyruvate sulfurtransferase
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MTAP methylthioadenosine phosphorylase
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MYBPC1 myosin binding protein C, slow type
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
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYOT myotilin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGF nerve growth factor (beta polypeptide)
NGLY1 N-glycanase 1
NIN ninein (GSK3B interacting protein)
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
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
NT5C2 5'-nucleotidase, cytosolic II
NTNG1 netrin G1
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
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
P3H1 prolyl 3-hydroxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX2 paired box 2
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
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)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX1 paired-like homeodomain 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
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
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRG4 proteoglycan 4
PRICKLE2 prickle homolog 2 (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PUF60 poly-U binding splicing factor 60KDa
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
PYCR1 pyrroline-5-carboxylate reductase 1
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)
RAB7A RAB7A, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
REEP1 receptor accessory protein 1
REEP2 receptor accessory protein 2
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIN2 Ras and Rab interactor 2
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTN2 reticulon 2
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SBDS Shwachman-Bodian-Diamond syndrome
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCARF2 scavenger receptor class F, member 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
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
SEPN1 selenoprotein N, 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SETX senataxin
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH3PXD2B SH3 and PX domains 2B
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOX short stature homeobox
SHROOM4 shroom family member 4
SIL1 SIL1 nucleotide exchange factor
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
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
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX3 sorting nexin 3
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SOX9 SRY (sex determining region Y)-box 9
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPRY4 sprouty homolog 4 (Drosophila)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
SRD5A3 steroid 5 alpha-reductase 3
STAC3 SH3 and cysteine rich domain 3
STIM1 stromal interaction molecule 1
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TACR3 tachykinin receptor 3
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TAZ tafazzin
TBC1D7 TBC1 domain family, member 7
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
TBXAS1 thromboxane A synthase 1 (platelet)
TCAP titin-cap
TCF12 transcription factor 12
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TDP1 tyrosyl-DNA phosphodiesterase 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
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)
THRA thyroid hormone receptor, alpha
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TNXB tenascin XB
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC11 trafficking protein particle complex 11
TRAPPC2 trafficking protein particle complex 2
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TTN titin
TTPA tocopherol (alpha) transfer protein
TWIST1 twist family bHLH transcription factor 1
TYROBP TYRO protein tyrosine kinase binding protein
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VANGL1 VANGL planar cell polarity protein 1
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)
VRK1 vaccinia related kinase 1
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
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
XYLT1 xylosyltransferase I
YARS tyrosyl-tRNA synthetase
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB16 zinc finger and BTB domain containing 16
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZNF592 zinc finger protein 592
ZSWIM6 zinc finger, SWIM-type containing 6