slender finger Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. (Human Phenotype Ontology, HP_0001238)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001238
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Genes

60 genes associated with the slender finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
AMER1 APC membrane recruitment protein 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCR breakpoint cluster region
BMP1 bone morphogenetic protein 1
BMP15 bone morphogenetic protein 15
CBS cystathionine-beta-synthase
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CNTN1 contactin 1
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTSC cathepsin C
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DSE dermatan sulfate epimerase
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
FSHR follicle stimulating hormone receptor
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
KANSL1 KAT8 regulatory NSL complex subunit 1
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MPST mercaptopyruvate sulfurtransferase
MTM1 myotubularin 1
NELFA negative elongation factor complex member A
NPR2 natriuretic peptide receptor 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
PEPD peptidase D
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POR P450 (cytochrome) oxidoreductase
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD3 SMAD family member 3
TBX2 T-box 2
TBX4 T-box 4
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
UBE3B ubiquitin protein ligase E3B
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZDHHC9 zinc finger, DHHC-type containing 9