basal ganglia calcification Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (Human Disease Ontology, DOID_0060230)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002135
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Genes

20 genes associated with the basal ganglia calcification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CA2 carbonic anhydrase II
CASR calcium-sensing receptor
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM111A family with sequence similarity 111, member A
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
IFIH1 interferon induced with helicase C domain 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RNASEH2B ribonuclease H2, subunit B
SAMHD1 SAM domain and HD domain 1
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TYROBP TYRO protein tyrosine kinase binding protein