Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.100 Biomarker group HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE These results, together with our previous study, demonstrate that RBO/TTC7/PI4KIIIα/Hyccin regulate neuronal Aβ accumulation and associated neural deficits in the Drosophila model, further supporting the RBO/Efr3-PI4KIIIα complex as a potential therapeutic target for AD. 30103315 2018
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE Our results implied that DRCTNNB1A is one of the genes involved in the beta-catenin-Tcf/Lef signaling pathway, and that reduced expression of DRCTNNB1A may have some role in colorectal carcinogenesis. 10910037 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.010 GeneticVariation disease BEFREE A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. 17928815 2008
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.100 Biomarker phenotype HPO
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		0.100 Biomarker disease HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 AlteredExpression disease BEFREE Furthermore, we documented reduced expression of DRCTNNB1A in 12 of 15 primary colorectal cancers examined, compared with corresponding adjacent noncancerous mucosae. 10910037 2000
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 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: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		0.100 Biomarker phenotype HPO
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
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 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 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 CausalMutation disease CLINVAR
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