RBPWorld - a comprehensive database of RNA Binding Proteins

Genetic disease

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Ensembl ID	Gene symbol	Open Targets Genetics	Clinvar	Gene Burden	Genomics england panel	Gene2Phenotype	UniProt literature	Uniprot variants	Clingen	Orphanet
ENSG00000109819	PPARGC1A	OTG	EVA	N.A.	N.A.	N.A.	N.A.	N.A.	N.A.	Orphanet

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Disease/phenotype	Publication	Variant ID	P-value	L2G score	Sample size
Pulse pressure	Giri A et al, 2018	4_23916937_C_T (rs372822970)	1.000e-56	0.126	318891
Pulse rate, automated reading	NA	4_23949395_C_G (rs12501032)	1.539e-26	0.611	340162
Hemoglobin levels	Barton AR et al, 2021	4_23734900_A_G (rs16874052)	2.400e-26	0.587	445373
Hematocrit	Chen MH et al, 2020	4_23734900_A_G (rs16874052)	3.990e-24	0.798	562259
Red blood cell count	Barton AR et al, 2021	4_23734900_A_G (rs16874052)	1.400e-23	0.587	445305
Hematocrit	Vuckovic D et al, 2020	4_23736242_A_G (rs16874060)	7.200e-23	0.792	408112
Hemoglobin concentration	Chen MH et al, 2020	4_23742215_G_A (rs73260456)	2.170e-22	0.809	563946
Hematocrit	Chen MH et al, 2020	4_23758155_G_C (rs73243608)	8.000e-22	0.872	737823
Hemoglobin	Vuckovic D et al, 2020	4_23736242_A_G (rs16874060)	9.100e-22	0.838	408112
Red blood cell count	Chen MH et al, 2020	4_23736242_A_G (rs16874060)	8.300e-21	0.716	545203

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Disease/phenotype	Variant ID (RSID)	rsID	HGVS ID	ClinVar ID	Clinical significance	Review status
Inborn genetic diseases	4_23831643_C_G	NA	NC_000004.12:g.23831643C>G	RCV002644793	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23829470_A_G	NA	NC_000004.12:g.23829470A>G	RCV002813252	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23889951_A_T	NA	NC_000004.12:g.23889951A>T	RCV002777111	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23814530_G_A	NA	NC_000004.12:g.23814530G>A	RCV002772699	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23831580_G_T	NA	NC_000004.12:g.23831580G>T	RCV002749296	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23802234_G_A	NA	NC_000004.12:g.23802234G>A	RCV002736896	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23802243_C_T	NA	NC_000004.12:g.23802243C>T	RCV002767691	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23884796_T_C	NA	NC_000004.12:g.23884796T>C	RCV002841416	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	4_23814107_C_T	NA	NC_000004.12:g.23814107C>T	RCV002925542	uncertain significance	criteria provided, single submitter

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Disease/phenotype	Study ID	Ancestry	P-value	Sample size
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Disease/phenotype	Allelic Requirement	Genomics England Panel	Confidence category	Literature
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g2p/phenotype	Functional consequence	Allelic requirement	Panel	Confidence	Literature
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Disease/phenotype	Reported protein	Confidence	Literature
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Disease/phenotype	Reported protein	Variant	Confidence	Literature
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Disease/phenotype	Study	Allelic requirement	Classification
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Disease/phenotype	Reported protein	Allele origin	Confidence	Literature
Amyotrophic lateral sclerosis	PPARG coactivator 1 alpha	germline	Assessed	Assessed

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Genetic disease