aplasia/hypoplasia of the thumb Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hypoplastic/small or absent thumb. (Human Phenotype Ontology, HP_0009601)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009601
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Genes

65 genes associated with the aplasia/hypoplasia of the 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
BCOR BCL6 corepressor
BMPR1B bone morphogenetic protein receptor, type IB
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
CHN1 chimerin 1
COL2A1 collagen, type II, alpha 1
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
EIF4A3 eukaryotic translation initiation factor 4A3
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GDF5 growth differentiation factor 5
GRIP1 glutamate receptor interacting protein 1
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MIR17HG miR-17-92 cluster host gene
NELFA negative elongation factor complex member A
NOG noggin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
RAD51C RAD51 paralog C
RB1 retinoblastoma 1
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
RPL26 ribosomal protein L26
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
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHH sonic hedgehog
SLX4 SLX4 structure-specific endonuclease subunit
SUFU suppressor of fused homolog (Drosophila)
TBX5 T-box 5
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TP63 tumor protein p63
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZBTB16 zinc finger and BTB domain containing 16