GAD1, glutamate decarboxylase 1, 2571

N. diseases: 245; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 GeneticVariation disease CLINVAR
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 Biomarker disease CTD_human
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.160 Biomarker phenotype HPO
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.110 Biomarker disease HPO
CUI: C0023882
Disease: Little's Disease
Little's Disease
0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
0.100 Biomarker disease HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group HPO
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia
0.300 Biomarker disease CTD_human [Modification of the nigro-striatal system by estrogens and prolactin. Clinical and experimental data]. 7138674 1982
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.350 Biomarker disease BEFREE The test-retest reliability for the age of onset of major depression and panic disorder was excellent, and for phobia, GAD and alcoholism, was acceptable. 3261342 1988
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.350 Biomarker disease PSYGENET The test-retest reliability for the age of onset of major depression and panic disorder was excellent, and for phobia, GAD and alcoholism, was acceptable. 3261342 1988
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.300 Biomarker group RGD Cloning, characterization, and autoimmune recognition of rat islet glutamic acid decarboxylase in insulin-dependent diabetes mellitus. 1924335 1991
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE The expressed rat islet 67-kDa GAD protein is functional and is immunoprecipitated by IDDM sera; it comigrates electrophoretically with the 67-kDa islet autoantigen. 1924335 1991
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE Although the level of GAD autoantibodies generally decline after IDDM onset, patients with IDDM-associated neuropathies have high levels of antibodies to GAD, years after the appearance of clinical IDDM. 1370298 1992
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.020 AlteredExpression group BEFREE Although the level of GAD autoantibodies generally decline after IDDM onset, patients with IDDM-associated neuropathies have high levels of antibodies to GAD, years after the appearance of clinical IDDM. 1370298 1992
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Although it has been confirmed that insulin dependent diabetes mellitus (IDDM) is a kind of autoimmune disease, islet cell autoantibodies (ICAs), insulin autoantibodies (IAA) and anti-GAD-glutamic acid decardaxylase antibodies have been found in the sera of patients with IDDM and immunotherapies have been used in some patients with IDDM, yet the manner in which the dysfunctional immunosystem acts on beta cells and causes damage to them remains to be clarified. 8143505 1993
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE Although it has been confirmed that insulin dependent diabetes mellitus (IDDM) is a kind of autoimmune disease, islet cell autoantibodies (ICAs), insulin autoantibodies (IAA) and anti-GAD-glutamic acid decardaxylase antibodies have been found in the sera of patients with IDDM and immunotherapies have been used in some patients with IDDM, yet the manner in which the dysfunctional immunosystem acts on beta cells and causes damage to them remains to be clarified. 8143505 1993
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE The gamma-aminobutyrate-synthesizing enzyme glutamate decarboxylase (GAD; L-glutamate 1-carboxy-lyase, EC 4.1.1.15) is a major target of autoantibodies associated with both early and late stages of pancreatic beta-cell destruction and development of type 1 diabetes. 7681990 1993
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE A natural history analysis of three individuals showed conversions from ICA which was reactive to GAD to a non-GAD-reactive ICA nearer to their clinical onsets of IDD. 8423231 1993