Disease: HYPOMYELINATION AND CONGENITAL CATARACT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GeneticVariation disease UNIPROT Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in FAM126A, a gene of unknown function. 26571211 2016
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GeneticVariation disease BEFREE Novel FAM126A mutations in hypomyelination and congenital cataract disease. 23998934 2013
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GeneticVariation disease UNIPROT Novel FAM126A mutations in hypomyelination and congenital cataract disease. 23998934 2013
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease BEFREE Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. 22461884 2012
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GeneticVariation disease UNIPROT To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A. 21911699 2011
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GeneticVariation disease BEFREE To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A. 21911699 2011
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease GENOMICS_ENGLAND Hypomyelination and congenital cataract is a recently reported autosomal recessive white matter disorder characterized by hypomyelination of the central and peripheral nervous systems, progressive neurological impairment and congenital cataract and caused by mutations in gene DRCTNNB1A. 17928815 2008
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease GENOMICS_ENGLAND Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 16951682 2006
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GermlineCausalMutation disease ORPHANET Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 16951682 2006
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease GENOMICS_ENGLAND Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 16951682 2006
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GeneticVariation disease UNIPROT Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 16951682 2006
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease BEFREE Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. 16951682 2006
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 CausalMutation disease CLINVAR
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 Biomarker disease CTD_human
CUI: C1864663
Disease: HYPOMYELINATION AND CONGENITAL CATARACT
HYPOMYELINATION AND CONGENITAL CATARACT 		0.740 GeneticVariation disease CLINVAR