ADRA2B, adrenoceptor alpha 2B, 151

N. diseases: 296; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		0.100 Biomarker phenotype HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 Biomarker phenotype HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C3552821
Disease: EEG with photoparoxysmal response
EEG with photoparoxysmal response 		0.100 Biomarker phenotype HPO
CUI: C3552824
Disease: Enhancement of the C-reflex
Enhancement of the C-reflex 		0.100 Biomarker phenotype HPO
CUI: C3552825
Disease: Jerk-locked premyoclonus spikes
Jerk-locked premyoclonus spikes 		0.100 Biomarker phenotype HPO
CUI: C3806961
Disease: Giant somatosensory evoked potentials
Giant somatosensory evoked potentials 		0.100 Biomarker phenotype HPO
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		0.100 Biomarker phenotype HPO
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		0.100 Biomarker phenotype HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 GeneticVariation disease BEFREE We identified in HSCR patients a G-->T missense mutation in EDNRB exon 4 that substitutes the highly conserved Trp-276 residue in the fifth transmembrane helix of the G protein-coupled receptor with a Cys residue (W276C). 8001158 1994
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		0.100 Biomarker disease BEFREE Kaposi's sarcoma-associated herpesvirus contains G protein-coupled receptor and cyclin D homologs which are expressed in Kaposi's sarcoma and malignant lymphoma. 8892957 1996
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.020 GeneticVariation disease BEFREE A novel human G protein-coupled receptor kinase was recently identified by positional cloning in the search for the Huntington's disease locus (Ambrose, C., James, M., Barnes, G., Lin, C., Bates, G., Altherr, M., Duyao, M., Groot, N., Church, D., Wasmuth, J. J., Lehrach, H., Housman, D., Buckler, A., Gusella, J. F., and MacDonald, M. E. (1993) Hum.Mol.Genet.1, 697-703). 8626439 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.020 Biomarker disease BEFREE Intron 17 of the human retinoblastoma susceptibility gene encodes an actively transcribed G protein-coupled receptor gene. 8889552 1996
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 Biomarker disease BEFREE Screening of a human erythroleukemia cell cDNA library with radiolabeled chicken P2Y3 cDNA at low stringency revealed a cDNA clone encoding a novel G protein-coupled receptor with homology to P2 purinoceptors. 8702478 1996
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 AlteredExpression group BEFREE Kaposi's sarcoma-associated herpesvirus contains G protein-coupled receptor and cyclin D homologs which are expressed in Kaposi's sarcoma and malignant lymphoma. 8892957 1996
CUI: C0936282
Disease: Blastoma
Blastoma 		0.010 AlteredExpression disease BEFREE This study shows that intron 17, the largest in size, consisting of nearly 72,000 bp, contains an open reading frame encoding a novel G protein-coupled receptor in the reverse orientation relative to the transcription of the retino-blastoma susceptibility gene. 8889552 1996
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.010 Biomarker disease BEFREE Screening of a human erythroleukemia cell cDNA library with radiolabeled chicken P2Y3 cDNA at low stringency revealed a cDNA clone encoding a novel G protein-coupled receptor with homology to P2 purinoceptors. 8702478 1996