MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35679149
rs35679149
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs35679149
rs35679149
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs771096255
rs771096255
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C0270921
Disease:
Axonal neuropathy 		0.010 GeneticVariation BEFREE We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family. 30642740 2019
dbSNP: rs201573646
rs201573646
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C0151786
Disease:
Muscle Weakness 		0.010 GeneticVariation BEFREE H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2. 29379136 2018
dbSNP: rs201573646
rs201573646
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C0030552
Disease:
Paresis 		0.010 GeneticVariation BEFREE H304R/+ mice displayed distal muscle weakness and loss of motor coordination phenotypes consistent with those of individuals with CMT2. 29379136 2018
dbSNP: rs1430414164
rs1430414164
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C0393818
Disease:
Congenital hypomyelinating neuropathy 		0.010 GeneticVariation BEFREE In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. 15094849 2004
dbSNP: rs530552002
rs530552002
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		0.010 GeneticVariation BEFREE In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient. 9633821 1998
dbSNP: rs765108575
rs765108575
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		0.010 GeneticVariation BEFREE In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient. 9633821 1998