Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 124997
Gene Symbol: WDR81
WDR81 		0.700 Biomarker disease GENOMICS_ENGLAND "Reply to ""an extremely severe phenotype due to WDR81 nonsense mutations""." 28961333 2017
Entrez Id: 124997
Gene Symbol: WDR81
WDR81 		0.700 GeneticVariation disease UNIPROT Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 26437881 2016
Entrez Id: 124997
Gene Symbol: WDR81
WDR81 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 21885617 2011
Entrez Id: 124997
Gene Symbol: WDR81
WDR81 		0.700 GeneticVariation disease UNIPROT Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 21885617 2011
Entrez Id: 124997
Gene Symbol: WDR81
WDR81 		0.700 CausalMutation disease CLINVAR
Entrez Id: 124997
Gene Symbol: WDR81
WDR81 		0.700 Biomarker disease CTD_human
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		0.200 Biomarker disease MGD Loss of Tmem30a leads to photoreceptor degeneration. 28839191 2017
Entrez Id: 767
Gene Symbol: CA8
CA8 		0.200 Biomarker disease MGD Pathogenesis of severe ataxia and tremor without the typical signs of neurodegeneration. 26586559 2016
Entrez Id: 767
Gene Symbol: CA8
CA8 		0.200 Biomarker disease MGD Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. 16118194 2005
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		0.200 Biomarker disease MGD Genetic and age related models of neurodegeneration in mice: dystrophic axons. 1634998 1992
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		0.200 Biomarker disease MGD Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. 1382814 1992
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2 		0.200 Biomarker disease MGD Aromatic amino acid metabolism in the wabbler-lethal mouse. 4388883 1969
Entrez Id: 440738
Gene Symbol: MAP1LC3C
MAP1LC3C 		0.010 Biomarker disease BEFREE These data suggest that WDR81 coordinates p62 and LC3C to facilitate autophagic removal of Ub proteins, and provide important insights into CAMRQ2 syndrome, a WDR81-related developmental disorder. 28404643 2017