sandal gap Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A widely spaced gap between the first toe (the great toe) and the second toe. (Human Phenotype Ontology, HP_0001852)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001852
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Genes

39 genes associated with the sandal gap phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARID1B AT rich interactive domain 1B (SWI1-like)
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GAT3 beta-1,3-glucuronyltransferase 3
BCR breakpoint cluster region
CANT1 calcium activated nucleotidase 1
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
COX7B cytochrome c oxidase subunit VIIb
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL4B cullin 4B
EFNB1 ephrin-B1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
ICK intestinal cell (MAK-like) kinase
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LTBP4 latent transforming growth factor beta binding protein 4
MAPK1 mitogen-activated protein kinase 1
MBD5 methyl-CpG binding domain protein 5
MPST mercaptopyruvate sulfurtransferase
NBAS neuroblastoma amplified sequence
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
RBBP8 retinoblastoma binding protein 8
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMOC1 SPARC related modular calcium binding 1
TBX2 T-box 2
TBX4 T-box 4
VPS13B vacuolar protein sorting 13 homolog B (yeast)