tapered finger Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The gradual reduction in girth of the digit from proximal to distal. (Human Phenotype Ontology, HP_0001182)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001182
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42 genes associated with the tapered finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACSL4 acyl-CoA synthetase long-chain family member 4
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
CDKL5 cyclin-dependent kinase-like 5
CPT2 carnitine palmitoyltransferase 2
CRLF1 cytokine receptor-like factor 1
DLX5 distal-less homeobox 5
ECE1 endothelin converting enzyme 1
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FIG4 FIG4 phosphoinositide 5-phosphatase
GATA2 GATA binding protein 2
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
HDAC8 histone deacetylase 8
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
INPPL1 inositol polyphosphate phosphatase-like 1
IRX5 iroquois homeobox 5
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KDM5C lysine (K)-specific demethylase 5C
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
NR2F1 nuclear receptor subfamily 2, group F, member 1
OFD1 oral-facial-digital syndrome 1
PAX1 paired box 1
PHF6 PHD finger protein 6
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SIM1 single-minded family bHLH transcription factor 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SNIP1 Smad nuclear interacting protein 1
TCF4 transcription factor 4
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNK1 WNK lysine deficient protein kinase 1