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 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 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 CTD_human
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 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 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 CLINVAR
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 GeneticVariation disease UNIPROT Novel FAM126A mutations in hypomyelination and congenital cataract disease. 23998934 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 GeneticVariation disease BEFREE Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein. 22461884 2012
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 Biomarker disease HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 GeneticVariation disease BEFREE A residual amount of hyccin protein in primary fibroblasts was demonstrated by functional studies indicating that missense mutations are likely to have less detrimental effects if compared with splice-site mutations or deletions that cause the full-blown HCC phenotype, including peripheral nervous system involvement. 23998934 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 Biomarker disease BEFREE HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. 22461884 2012
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.100 Biomarker phenotype HPO
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		0.100 Biomarker phenotype HPO
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE Starting from the generated graphs we calculate a set of descriptors of electrostatic potential type (xi(k)) that allow to establish, through a linear discriminant analysis (LDA), a QSAR model of relatively high percentage of good classification (higher than 80%) to differentiate between HCCp and no-HCCp proteins. 19654012 2009
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO