Idiopathic basal ganglia calcification

Disease Term Disease ID Gene Symbol Classification References Source
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
213600MONDO:0024538
PDGFB Unknown — HPO
PDGFRB Unknown — HPO
SLC20A2 Unknown — GenCC HPO
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE
621018MONDO:0975875
CMPK2 Unknown — ClinVar GenCC HPO
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
615007C3554321MONDO:0014004OMIM:615007
PDGFRB Causal — CTD ClinVar Disgenet GenCC HPO
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
615483C3809645MONDO:0014204OMIM:615483
PDGFB Causal — CTD ClinVar Disgenet GenCC HPO
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6
616413C4225335MONDO:0014628OMIM:616413
XPR1 Causal — CTD ClinVar Disgenet GenCC HPO
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
618317C5193025MONDO:0032673
MYORG Causal
29910000 31009047 31951047 32211515 35870928
ClinVar Disgenet GWAS catalog HPO
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE
618824C5394199MONDO:0032938
JAM2 Causal — ClinVar Disgenet GenCC HPO
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
620786C5935607MONDO:0968977
NAA60 Causal — ClinVar Disgenet GenCC HPO
IDIOPATHIC BASAL GANGLIA CALCIFICATION 1
C4551624
SLC20A2 Causal — ClinVar Disgenet
CMPK2 Unknown — Disgenet
DUOX2 Unknown — Disgenet
JAM2 Unknown — Disgenet
MYORG Unknown — Disgenet
NAA60 Unknown — Disgenet
PDGFB Unknown — ClinVar Disgenet
PDGFRB Unknown — ClinVar Disgenet
SMIM19 Unknown — Disgenet
XPR1 Unknown — ClinVar Disgenet
IDIOPATHIC BASAL GANGLIA CALCIFICATION, CHILDHOOD ONSET
C1861967
IFIH1 Unknown — Disgenet