rs372181708, IGHMBP2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Distal Spinal Muscular Atrophy
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
0.700 CausalMutation CLINVAR Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells. 24388491 2014
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
0.700 CausalMutation CLINVAR
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
0.700 CausalMutation CLINVAR