Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 GeneticVariation disease UNIPROT Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. 28144995 2017
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26718575 2016
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 Biomarker disease GENOMICS_ENGLAND Phenotype of cardiomyopathy in cardiac-specific heat shock protein B8 K141N transgenic mouse. 23389032 2013
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 GeneticVariation disease UNIPROT Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 15122253 2004
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 Biomarker disease GENOMICS_ENGLAND Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 15122253 2004
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 Biomarker disease CTD_human
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 CausalMutation disease CLINVAR
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		0.700 GeneticVariation disease CLINVAR