skin pit Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A small, skin-lined tract that leads from the surface to deep within the tissues. (Human Phenotype Ontology, HP_0100276)
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27 genes associated with the skin pit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B3GALTL beta 1,3-galactosyltransferase-like
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EYA1 EYA transcriptional coactivator and phosphatase 1
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GPC3 glypican 3
GRHL3 grainyhead-like 3 (Drosophila)
GSC goosecoid homeobox
IRF6 interferon regulatory factor 6
JAG1 jagged 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
NKX2-5 NK2 homeobox 5
OFD1 oral-facial-digital syndrome 1
PAX1 paired box 1
PTCH1 patched 1
PTCH2 patched 2
RAB23 RAB23, member RAS oncogene family
SALL1 spalt-like transcription factor 1
SIX1 SIX homeobox 1
SUFU suppressor of fused homolog (Drosophila)
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
ZFPM2 zinc finger protein, FOG family member 2