abnormality of the thumb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the thumb. (Human Phenotype Ontology, HP_0001172)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001172
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Genes

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

Symbol Name
ACAN aggrecan
ACTB actin, beta
ACTG1 actin gamma 1
ACVR1 activin A receptor, type I
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ANKRD11 ankyrin repeat domain 11
AP4M1 adaptor-related protein complex 4, mu 1 subunit
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BHLHA9 basic helix-loop-helix family, member a9
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CANT1 calcium activated nucleotidase 1
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHSY1 chondroitin sulfate synthase 1
CLIP2 CAP-GLY domain containing linker protein 2
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DSE dermatan sulfate epimerase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
EFTUD2 elongation factor Tu GTP binding domain containing 2
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
EP300 E1A binding protein p300
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
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
FBN2 fibrillin 2
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA4 GATA binding protein 4
GDF5 growth differentiation factor 5
GDNF glial cell derived neurotrophic factor
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HOXA13 homeobox A13
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IFT80 intraflagellar transport 80
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
ISPD isoprenoid synthase domain containing
KIF7 kinesin family member 7
L1CAM L1 cell adhesion molecule
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
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MIR17HG miR-17-92 cluster host gene
MKS1 Meckel syndrome, type 1
MSX2 msh homeobox 2
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NRTN neurturin
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RB1 retinoblastoma 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNIP1 Smad nuclear interacting protein 1
SNX3 sorting nexin 3
SRCAP Snf2-related CREBBP activator protein
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX5 T-box 5
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
UBA1 ubiquitin-like modifier activating enzyme 1
USP9X ubiquitin specific peptidase 9, X-linked
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16
ZC4H2 zinc finger, C4H2 domain containing
ZIC3 Zic family member 3