Disease: Hereditary Motor and Sensory Neuropathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs533235539
rs533235539
Entrez Id: 55790
Gene Symbol: CSGALNACT1
CSGALNACT1
CUI: C0027888
Disease:
Hereditary Motor and Sensory Neuropathies 		0.010 GeneticVariation BEFREE We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively. 21160489 2011