MPZL2, myelin protein zero like 2, 10205

N. diseases: 40; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12798851
rs12798851
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1056562
rs1056562
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs1629083
rs1629083
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
CUI: C0684249
Disease:
Carcinoma of lung 		C 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs1565501066
rs1565501066
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
CUI: C4748374
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 111 		A 0.700 CausalMutation CLINVAR
dbSNP: rs752672077
rs752672077
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
CUI: C4748374
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 111 		C 0.700 CausalMutation CLINVAR
dbSNP: rs752672077
rs752672077
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs<sup>∗</sup>22). 29961571 2018
dbSNP: rs756215789
rs756215789
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs<sup>∗</sup>22). 29961571 2018