Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894626
rs104894626
PMP22
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.800 GeneticVariation UNIPROT A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. 15099592

2004
dbSNP: rs104894626
rs104894626
PMP22
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.800 GeneticVariation UNIPROT Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. 12578939

2003
dbSNP: rs104894626
rs104894626
PMP22
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
dbSNP: rs104894626
rs104894626
PMP22
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		0.800 GeneticVariation UNIPROT A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. 10330345

1999
dbSNP: rs104894626
rs104894626
PMP22
CUI: C3495591
Disease: Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 		G 0.800 CausalMutation CLINVAR