rs1566445029, IGHMBP2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
0.700 GeneticVariation CLINVAR Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. 25568292 2015
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
0.700 GeneticVariation CLINVAR Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. 25568292 2015
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
0.700 GeneticVariation CLINVAR Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. 25439726 2014
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
0.700 GeneticVariation CLINVAR Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. 25439726 2014
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
0.700 GeneticVariation CLINVAR Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 14681881 2003
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
0.700 GeneticVariation CLINVAR Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 14681881 2003