Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease CTD_human
Entrez Id: 84823
Gene Symbol: LMNB2
LMNB2 		0.300 Biomarker disease CTD_human
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.300 Biomarker disease CTD_human
Entrez Id: 10715
Gene Symbol: CERS1
CERS1 		0.300 Biomarker disease CTD_human
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2 		0.300 Biomarker disease CTD_human
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.300 Biomarker disease CTD_human
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8 		0.300 Biomarker disease CTD_human
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease BEFREE SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. 27582254 2016
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2. 22767442 2012
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 Biomarker disease BEFREE A literature review revealed that mutations in the different functional domains of SCARB2 appear to be associated with the phenotype of EPM4. 29941711 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A mutation in SCARB2 is a modifier in Gaucher disease. 21796727 2011
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 23225201 2012
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 24339182 2014
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452 2008
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 GeneticVariation disease UNIPROT A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452 2008
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. 23325613 2013
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		0.800 CausalMutation disease CLINVAR A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. 24485911 2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 26278
Gene Symbol: SACS
SACS 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		0.300 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015