KIF1B, kinesin family member 1B, 23095

N. diseases: 213; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis
0.110 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
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis
0.110 Biomarker disease HPO