Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		0.700 Biomarker CLINGEN A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. 28888069

2017
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		0.700 Biomarker CLINGEN A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. 28975462

2017
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		0.700 Biomarker CLINGEN X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 28842795

2017
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		0.700 Biomarker CLINGEN Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071

2015
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		0.700 Biomarker CLINGEN Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. 23217327

2012
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		0.700 Biomarker CLINGEN Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 20362274

2010