PLLP, plasmolipin, 51090

N. diseases: 10; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123053
rs398123053
Entrez Id: 23568;51090
Gene Symbol: ARL2BP;PLLP
ARL2BP;PLLP
CUI: C4747737
Disease:
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
0.800 GeneticVariation UNIPROT
dbSNP: rs398123053
rs398123053
Entrez Id: 23568;51090
Gene Symbol: ARL2BP;PLLP
ARL2BP;PLLP
CUI: C4747737
Disease:
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
G 0.800 CausalMutation CLINVAR
dbSNP: rs80305714
rs80305714
Entrez Id: 51090
Gene Symbol: PLLP
PLLP
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs199830550
rs199830550
Entrez Id: 23568;51090
Gene Symbol: ARL2BP;PLLP
ARL2BP;PLLP
CUI: C0854723
Disease:
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR
dbSNP: rs199830550
rs199830550
Entrez Id: 23568;51090
Gene Symbol: ARL2BP;PLLP
ARL2BP;PLLP
CUI: C4747737
Disease:
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
T 0.700 CausalMutation CLINVAR