SLC33A1, solute carrier family 33 member 1, 9197

N. diseases: 170; N. variants: 7
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875283
rs281875283
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C3280965
Disease:
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		G 0.800 CausalMutation CLINVAR Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
dbSNP: rs281875283
rs281875283
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C3280965
Disease:
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		0.800 GeneticVariation UNIPROT Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
dbSNP: rs863223316
rs863223316
Entrez Id: 9197;105374174
Gene Symbol: SLC33A1;LOC105374174
SLC33A1;LOC105374174
CUI: C3280965
Disease:
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 		TA 0.700 CausalMutation CLINVAR