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
ENSG00000074071	MRPS34	OTG	EVA	N.A.	GEP	N.A.	N.A.	UV	CG	N.A.

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Disease/phenotype	Publication	Variant ID	P-value	L2G score	Sample size
Insulin-like growth factor 1 levels	Barton AR et al, 2021	16_1820132_G_A (rs55786131)	1.200e-122	0.0741	435516
Sitting height	NA	16_1778029_G_A (rs35816944)	3.226e-22	0.0553	360066
Vertex-wise cortical thickness	van der Meer D et al, 2021	16_1765945_C_T (rs2575371)	1.000e-09	0.0978	33748
Calcium levels	Young WJ et al, 2021	16_1794225_C_G (rs2745205)	4.000e-08	0.0564	305349

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Disease/phenotype	Variant ID (RSID)	rsID	HGVS ID	ClinVar ID	Clinical significance	Review status
Combined oxidative phosphorylation deficiency 32	16_1773023_G_T	rs11552431	NC_000016.10:g.1773023G>T	RCV001544460	benign	criteria provided, single submitter
Combined oxidative phosphorylation deficiency 32	16_1772474_A_G	NA	NC_000016.10:g.1772474A>G	RCV003130758	uncertain significance	criteria provided, single submitter
Combined oxidative phosphorylation deficiency 32	16_1772316_C_T	NA	NC_000016.10:g.1772316C>T	RCV002077366	likely pathogenic	criteria provided, single submitter
Combined oxidative phosphorylation deficiency 32	16_1773026_G_A	rs763672163	NC_000016.10:g.1773026G>A	RCV000505531	likely pathogenic;pathogenic	criteria provided, multiple submitters, no conflicts
Combined oxidative phosphorylation deficiency 32	16_1772346_G_A	NA	NC_000016.10:g.1772346G>A	RCV003144025	likely pathogenic	criteria provided, single submitter
Combined oxidative phosphorylation deficiency 32	16_1773083_C_T	rs1131692037	NC_000016.10:g.1773083C>T	RCV000505523	likely pathogenic	criteria provided, single submitter
Combined oxidative phosphorylation deficiency 32	16_1772656_C_T	rs563189672	NC_000016.10:g.1772656C>T	RCV000505515	pathogenic	criteria provided, single submitter
Combined oxidative phosphorylation deficiency 32	16_1772798_C_A	rs1161932777	NC_000016.10:g.1772798C>A	RCV000505529	pathogenic	no assertion criteria provided
Inborn genetic diseases	16_1773094_C_T	NA	NC_000016.10:g.1773094C>T	RCV002689212	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	16_1772995_G_A	NA	NC_000016.10:g.1772995G>A	RCV002865790	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
Combined oxidative phosphorylation deficiency 32	BIALLELIC, autosomal or pseudoautosomal	Severe Paediatric Disorders	green	1
Combined oxidative phosphorylation deficiency 32	BIALLELIC, autosomal or pseudoautosomal	Inborn errors of metabolism	green	1
Combined oxidative phosphorylation deficiency 32	BIALLELIC, autosomal or pseudoautosomal	Possible mitochondrial disorder - nuclear genes	green	0
Combined oxidative phosphorylation deficiency 32	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial disorders	green	1
Combined oxidativephosphorylation deficiency 32	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability	green	2

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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
Combined oxidative phosphorylation deficiency 32	P82930	rs1131692037	high	28777931

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Disease/phenotype	Study	Allelic requirement	Classification
Leigh syndrome	Mitochondrial Diseases	AR	Moderate

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Disease/phenotype	Reported protein	Allele origin	Confidence	Literature
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Genetic disease