| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | CLINGEN | A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. | 28888069 | 2017 | ||||
|
0.700 | Biomarker | disease | CLINGEN | A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. | 28975462 | 2017 | ||||
|
0.700 | Biomarker | disease | CLINGEN | X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. | 28842795 | 2017 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. | 25986071 | 2015 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. | 25986071 | 2015 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. | 25986071 | 2015 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. | 25986071 | 2015 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. | 23217327 | 2012 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. | 20362274 | 2010 | ||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | GeneticVariation | disease | CLINVAR | |||||||
|
0.700 | CausalMutation | disease | CLINVAR |