SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.100 Biomarker disease HPO
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		0.100 Biomarker phenotype HPO
CUI: C1847164
Disease: Morning myoclonic jerks
Morning myoclonic jerks 		0.100 Biomarker phenotype HPO
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		0.100 Biomarker phenotype HPO
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		0.100 Biomarker phenotype HPO
CUI: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology 		0.100 Biomarker phenotype HPO
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		0.100 Biomarker phenotype HPO
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C4721411
Disease: Osteolysis
Osteolysis 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE 4 genes, LAMP3, PIP5K1B, SCARB2 and TXNIP were identified in both groups; each displays significant biologic plausibility for a role in asthma. 24188128 2013
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.020 GeneticVariation disease BEFREE Demyelinating neuropathy is a clinical clue to the presence of SCARB2 mutations in PME. 21670406 2011
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519 2014
CUI: C0751354
Disease: Myoclonus, Action
Myoclonus, Action 		0.040 GeneticVariation phenotype BEFREE Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. 24485911 2014
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. 29605618 2018
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		0.070 Biomarker disease BEFREE LIMP-2 was identified as a sorting receptor for beta-glucocerebrosidase (beta-GC), which is defective in Gaucher disease. 19933215 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 AlteredExpression disease BEFREE LIMP-2 gene and protein expression was significantly increased in prostate cancer compared to nonmalignant cell lines (P ≤ 0.05). 24435746 2014
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE LIMP-2 gene and protein expression was significantly increased in prostate cancer compared to nonmalignant cell lines (P ≤ 0.05). 24435746 2014
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.020 Biomarker group BEFREE SCARB2 or PSGL-1 receptor binding is the first step in the development of viral infections, and viral factors (e.g., 5' UTR, VP1, 3C, 3D, 3' UTR), host factors and environments (e.g., ITAFs, type I IFN) are also involved in viral infections. 24602216 2014
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 Biomarker disease BEFREE SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. 27582254 2016
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.050 Biomarker disease BEFREE LIMP-2 deficiency is associated with neurological abnormalities and kidney failure and, as an acid glucocerebrosidase receptor, impacts Gaucher and Parkinson's diseases. 29199275 2017