Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth disease, Type 2B2
CUI: C1854150
Disease: Charcot-Marie-Tooth disease, Type 2B2
0.800 GeneticVariation UNIPROT Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. 19290556 2009
Charcot-Marie-Tooth disease, Type 2B2
CUI: C1854150
Disease: Charcot-Marie-Tooth disease, Type 2B2
0.800 CausalMutation CLINVAR
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.710 GeneticVariation BEFREE We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican family with autosomal recessively inherited Charcot-Marie-Tooth neuropathy linked to the CMT2B2 locus in chromosome 19q13.3. 19290556 2009
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.710 CausalMutation CLINVAR
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
0.700 CausalMutation CLINVAR
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.010 GeneticVariation BEFREE We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican family with autosomal recessively inherited Charcot-Marie-Tooth neuropathy linked to the CMT2B2 locus in chromosome 19q13.3. 19290556 2009