cerebral calcification Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of calcium deposition within brain structures. (Human Phenotype Ontology, HP_0002514)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002514
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Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADAR adenosine deaminase, RNA-specific
AIRE autoimmune regulator
AMER1 APC membrane recruitment protein 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APP amyloid beta (A4) precursor protein
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CA2 carbonic anhydrase II
CASR calcium-sensing receptor
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CTC1 CTS telomere maintenance complex component 1
CTSC cathepsin C
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DKC1 dyskeratosis congenita 1, dyskerin
ECM1 extracellular matrix protein 1
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
GCM2 glial cells missing homolog 2 (Drosophila)
GJA1 gap junction protein, alpha 1, 43kDa
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
HRAS Harvey rat sarcoma viral oncogene homolog
IFIH1 interferon induced with helicase C domain 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
MGP matrix Gla protein
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYO5A myosin VA (heavy chain 12, myoxin)
ND1
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
OCLN occludin
PAH phenylalanine hydroxylase
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PHGDH phosphoglycerate dehydrogenase
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCH2 patched 2
PTH parathyroid hormone
QDPR quinoid dihydropteridine reductase
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RTEL1 regulator of telomere elongation helicase 1
SAMHD1 SAM domain and HD domain 1
SC5D sterol-C5-desaturase
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC46A1 solute carrier family 46 (folate transporter), member 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUFU suppressor of fused homolog (Drosophila)
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYROBP TYRO protein tyrosine kinase binding protein
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
ZBTB20 zinc finger and BTB domain containing 20