short thumb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hypoplasia (congenital reduction in size) of the thumb. (Human Phenotype Ontology, HP_0009778)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009778
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Genes

35 genes associated with the short thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CANT1 calcium activated nucleotidase 1
CHD7 chromodomain helicase DNA binding protein 7
COL2A1 collagen, type II, alpha 1
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
EIF4A3 eukaryotic translation initiation factor 4A3
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
MGP matrix Gla protein
MIR17HG miR-17-92 cluster host gene
NOG noggin
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PTCH1 patched 1
PTCH2 patched 2
RAD51C RAD51 paralog C
RECQL4 RecQ protein-like 4
RPS19 ribosomal protein S19
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SLX4 SLX4 structure-specific endonuclease subunit
SUFU suppressor of fused homolog (Drosophila)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)