Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT Structural basis for integration of GluD receptors within synaptic organizer complexes. 27418511 2016
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease GENOMICS_ENGLAND GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. 25841024 2015
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease GENOMICS_ENGLAND GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. 25841024 2015
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. 25841024 2015
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GermlineCausalMutation disease ORPHANET A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. 23611888 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease MGD Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. 24078737 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. 23611888 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease UNIPROT Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. 24078737 2013
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 Biomarker disease GENOMICS_ENGLAND Cbln1 is a ligand for an orphan glutamate receptor delta2, a bidirectional synapse organizer. 20395510 2010
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 CausalMutation disease CLINVAR
CUI: C4015505
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 		0.900 GeneticVariation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.300 Biomarker disease CTD_human
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		0.300 Biomarker disease CTD_human
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.300 Biomarker disease CTD_human
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		0.300 Biomarker disease CTD_human
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.300 Biomarker disease CTD_human
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		0.300 Biomarker disease CTD_human
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 GeneticVariation disease BEFREE Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features. 29207948 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay. 29207948 2017
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.110 GeneticVariation disease BEFREE Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features. 29207948 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease BEFREE However, the progressive and severe cerebellar atrophy seen in the affected individuals could indicate an evolutionarily unique role for GRID2 in the human cerebellum. 24078737 2013
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO