skin dimples Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. (Human Phenotype Ontology, HP_0010781)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010781
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Genes

47 genes associated with the skin dimples phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
ANK1 ankyrin 1, erythrocytic
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BLM Bloom syndrome, RecQ helicase-like
CD96 CD96 molecule
CHL1 cell adhesion molecule L1-like
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
COX7B cytochrome c oxidase subunit VIIb
CRBN cereblon
DCHS1 dachsous cadherin-related 1
DEAF1 DEAF1 transcription factor
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
ELN elastin
FAT4 FAT atypical cadherin 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HIC1 hypermethylated in cancer 1
HOXA13 homeobox A13
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNK9 potassium channel, two pore domain subfamily K, member 9
KMT2A lysine (K)-specific methyltransferase 2A
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
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MED12 mediator complex subunit 12
NELFA negative elongation factor complex member A
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
RAB23 RAB23, member RAS oncogene family
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TMCO1 transmembrane and coiled-coil domains 1
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon