MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Disease: Sensory neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.020 Biomarker disease BEFREE CMT2 refers to inherited axonal polyneuropathy, which associates progressive peripheral motor and sensory neuropathy, a family history consistent mainly with autosomal dominant inheritance, and normal nerve conduction velocities. 26686600 2016
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.020 GeneticVariation disease BEFREE Electroneuromyography revealed an axonal motor and sensory neuropathy in 3 different families, very evocative of type II Charcot-Marie-Tooth (CMT2) disease, although none had mutations in the known CMT2 genes. 24804794 2014