MAD2L1BP, MAD2L1 binding protein, 9587

N. diseases: 61; N. variants: 6
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		0.010 Biomarker disease BEFREE Our data suggest that TRPV4-linked CMT2C accounts for a sizable fraction in this USA cohort of CMT2; it has a wide phenotypic spectrum, and vocal cord paralysis, scapular weakness and wasting, skeletal dysplasia, and hearing loss are suggestive signs for TRPV4-linked CMT2C. 31468327 2020