Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693546
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.600 GeneticVariation disease UNIPROT A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. 29369404 2018
CUI: C4693546
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.600 Biomarker disease GENOMICS_ENGLAND "Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""." 29377213 2018
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 GeneticVariation disease UNIPROT A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype. 29369404 2018
CUI: C4693546
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.600 GeneticVariation disease UNIPROT GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 28856709 2017
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 GeneticVariation disease UNIPROT High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 GeneticVariation disease UNIPROT GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 28856709 2017
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 Biomarker disease GENOMICS_ENGLAND GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. 28856709 2017
CUI: C4693546
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.600 GeneticVariation disease UNIPROT Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
CUI: C4693546
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 		0.600 CausalMutation disease CLINVAR
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.600 CausalMutation disease CLINVAR
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 Biomarker disease GENOMICS_ENGLAND "Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""." 29377213 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease GENOMICS_ENGLAND "Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""." 29377213 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 Biomarker disease GENOMICS_ENGLAND GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 Biomarker disease BEFREE GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease GENOMICS_ENGLAND GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease BEFREE GABBR2 is a genetic factor that determines RTT- or EE-like phenotype expression depending on the variant positions. 28856709 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease GENOMICS_ENGLAND De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.410 CausalMutation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease HPO
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 Biomarker disease BEFREE We have previously demonstrated reduced expression of GABA(B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder. 24022508 2013
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 Biomarker disease PSYGENET We have previously demonstrated reduced expression of GABA(B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder. 24022508 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.310 Biomarker disease PSYGENET We have previously demonstrated reduced expression of GABA(B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder. 24022508 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.310 Biomarker disease BEFREE We have previously demonstrated reduced expression of GABA(B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder. 24022508 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease BEFREE We compared levels of GABA(B) receptor subunits GABA(B) receptor 1 (GABBR1) and GABA(B) receptor 2 (GABBR2) in cerebellum, Brodmann's area 9 (BA9), and BA40 of subjects with autism and matched controls. 19002745 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease CTD_human We compared levels of GABA(B) receptor subunits GABA(B) receptor 1 (GABBR1) and GABA(B) receptor 2 (GABBR2) in cerebellum, Brodmann's area 9 (BA9), and BA40 of subjects with autism and matched controls. 19002745 2009