adducted thumb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. (Human Phenotype Ontology, HP_0001181)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001181
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Genes

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

Symbol Name
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG3 ALG3, alpha-1,3- mannosyltransferase
AP4M1 adaptor-related protein complex 4, mu 1 subunit
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLIP2 CAP-GLY domain containing linker protein 2
CRLF1 cytokine receptor-like factor 1
DSE dermatan sulfate epimerase
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
ELN elastin
ERCC1 excision repair cross-complementation group 1
FBN2 fibrillin 2
GDNF glial cell derived neurotrophic factor
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
ISPD isoprenoid synthase domain containing
L1CAM L1 cell adhesion molecule
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NRTN neurturin
PHGDH phosphoglycerate dehydrogenase
RBM8A RNA binding motif protein 8A
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
TBL2 transducin (beta)-like 2
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
UBA1 ubiquitin-like modifier activating enzyme 1