Disease: X-linked hereditary sensory and autonomic neuropathy with deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		0.300 Biomarker disease CLINGEN A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. 28888069 2017
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		0.300 Biomarker disease CLINGEN A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. 28975462 2017
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		0.300 Biomarker disease CLINGEN X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 28842795 2017
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		0.300 Biomarker disease CLINGEN Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 25986071 2015
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		0.300 Biomarker disease CLINGEN Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. 23217327 2012
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		0.300 Biomarker disease CLINGEN Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 20362274 2010