Abnormality Of The Metacarpal Bones Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormality of the metacarpal bones. (Human Phenotype Ontology, HP_0001163)
External Link https://www.disgenet.org/browser/0/1/0/C4021785
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Genes

39 genes associated with the disease Abnormality Of The Metacarpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AKT1 v-akt murine thymoma viral oncogene homolog 1
APC adenomatous polyposis coli
ARHGAP31 Rho GTPase activating protein 31
BHLHA9 basic helix-loop-helix family, member a9
CDKL5 cyclin-dependent kinase-like 5
CLCN7 chloride channel, voltage-sensitive 7
DHCR7 7-dehydrocholesterol reductase
DLL4 delta-like 4 (Drosophila)
DOCK6 dedicator of cytokinesis 6
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FOXG1 forkhead box G1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
INPP5K inositol polyphosphate-5-phosphatase K
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MECP2 methyl CpG binding protein 2
MKKS McKusick-Kaufman syndrome
NOTCH1 notch 1
NTNG1 netrin G1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RUNX2 runt-related transcription factor 2
SH3PXD2B SH3 and PX domains 2B
SIL1 SIL1 nucleotide exchange factor
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
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
STXBP1 syntaxin binding protein 1
TBX3 T-box 3
TBX5 T-box 5
TONSL tonsoku-like, DNA repair protein