Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 Biomarker disease GENOMICS_ENGLAND Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. 29531481 2018
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 Biomarker disease MGD Loss of Tmem30a leads to photoreceptor degeneration. 28839191 2017
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 Biomarker disease GENOMICS_ENGLAND Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 Biomarker disease GENOMICS_ENGLAND Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 GeneticVariation disease UNIPROT Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 Biomarker disease MGD Genetic and age related models of neurodegeneration in mice: dystrophic axons. 1634998 1992
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 Biomarker disease MGD Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. 1382814 1992
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 Biomarker disease MGD Aromatic amino acid metabolism in the wabbler-lethal mouse. 4388883 1969
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 GeneticVariation disease CLINVAR
CUI: C3808977
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 		0.800 CausalMutation disease CLINVAR
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.500 Biomarker disease MGD Loss of Tmem30a leads to photoreceptor degeneration. 28839191 2017
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.500 Biomarker disease MGD Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. 1382814 1992
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.500 Biomarker disease MGD Genetic and age related models of neurodegeneration in mice: dystrophic axons. 1634998 1992
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.500 Biomarker disease MGD Aromatic amino acid metabolism in the wabbler-lethal mouse. 4388883 1969
CUI: C4551552
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 		0.500 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE Mutations in the ATP8A2 gene have been reported to cause severe autosomal recessive neurological diseases in humans characterized by intellectual disability, hypotonia, chorea, and hyperkinetic movement disorders with or without optic and cerebellar atrophy. 31397519 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. 29531481 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.310 Biomarker disease BEFREE The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome. 24807585 2014
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		0.310 GermlineCausalMutation disease ORPHANET Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528 2013
CUI: C2750234
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 		0.200 Biomarker disease MGD Loss of Tmem30a leads to photoreceptor degeneration. 28839191 2017
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.200 Biomarker disease MGD Loss of Tmem30a leads to photoreceptor degeneration. 28839191 2017
CUI: C2750234
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 		0.200 Biomarker disease MGD Genetic and age related models of neurodegeneration in mice: dystrophic axons. 1634998 1992
CUI: C2750234
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 		0.200 Biomarker disease MGD Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. 1382814 1992
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		0.200 Biomarker disease MGD Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. 1382814 1992