aplasia/hypoplasia of the 5th finger Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A small/hypoplastic or absent/aplastic 5th finger. (Human Phenotype Ontology, HP_0006262)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006262
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Genes

16 genes associated with the aplasia/hypoplasia of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL2A1 collagen, type II, alpha 1
CUL7 cullin 7
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJA1 gap junction protein, alpha 1, 43kDa
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HOXA13 homeobox A13
HOXD13 homeobox D13
KMT2D lysine (K)-specific methyltransferase 2D
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
PUF60 poly-U binding splicing factor 60KDa
RBBP8 retinoblastoma binding protein 8
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
ZDHHC15 zinc finger, DHHC-type containing 15