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
ENSG00000100412	ACO2	OTG	EVA	N.A.	GEP	G2P	UL	UV	N.A.	Orphanet

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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	22_41357055_G_A (rs28638318)	1.100e-46	0.0677	435516
Insulin-like growth factor 1 levels	Sinnott-Armstrong N et al, 2021	22_41371482_T_C (rs9611565)	2.000e-24	0.134	317114
Neutrophil percentage of white cells	Vuckovic D et al, 2020	22_41354215_A_G (rs5758307)	3.400e-23	0.0764	408112
Eosinophil counts	Kichaev G et al, 2018	22_41356940_A_G (rs1109151)	2.000e-22	0.157	440000
Insulin-like growth factor 1 levels	Sinnott-Armstrong N et al, 2021	22_41372858_C_T (rs5751086)	2.000e-21	0.0727	353824
Lymphocyte-to-monocyte ratio	Kachuri L et al, 2021	22_41372621_C_T (rs9611566)	2.000e-20	0.0978	234184
Highest math class taken (MTAG) [MTAG]	Lee JJ et al, 2018	22_41458442_C_T (rs9607805)	5.000e-20	0.297	811539
Eosinophil counts	Sakaue S et al, 2021	22_41457924_A_G (rs202637)	6.000e-20	0.23	442919
Cognitive performance (MTAG) [MTAG]	Lee JJ et al, 2018	22_41596165_G_A (rs62236533)	3.000e-17	0.0994	402382
Highest math class taken	Lee JJ et al, 2018	22_41463657_A_G (rs6002386)	3.000e-16	0.225	430445

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Disease/phenotype	Variant ID (RSID)	rsID	HGVS ID	ClinVar ID	Clinical significance	Review status
Brain atrophy	22_41523856_A_C	rs1057518831	NC_000022.11:g.41523856A>C	RCV000415254	uncertain significance	criteria provided, single submitter
Brain atrophy	22_41499765_C_T	rs1057518832	NC_000022.11:g.41499765C>T	RCV000414995	uncertain significance	criteria provided, single submitter
Brain atrophy	22_41523854_G_C	rs746964497	NC_000022.11:g.41523854G>C	RCV000415400	uncertain significance	criteria provided, single submitter
Brain atrophy	22_41499764_C_T	rs1057518833	NC_000022.11:g.41499764C>T	RCV000415199	uncertain significance	criteria provided, single submitter
Global developmental delay	22_41499765_C_T	rs1057518832	NC_000022.11:g.41499765C>T	RCV000414995	uncertain significance	criteria provided, single submitter
Global developmental delay	22_41523856_A_C	rs1057518831	NC_000022.11:g.41523856A>C	RCV000415254	uncertain significance	criteria provided, single submitter
Global developmental delay	22_41499764_C_T	rs1057518833	NC_000022.11:g.41499764C>T	RCV000415199	uncertain significance	criteria provided, single submitter
Global developmental delay	22_41523854_G_C	rs746964497	NC_000022.11:g.41523854G>C	RCV000415400	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	22_41522982_G_A	NA	NC_000022.11:g.41522982G>A	RCV002561478	uncertain significance	criteria provided, single submitter
Inborn genetic diseases	22_41525309_G_C	rs869312927	NC_000022.11:g.41525309G>C	RCV000210632	likely pathogenic	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
INFANTILE CEREBELLAR-RETINAL DEGENERATION	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	DDG2P	amber	2
Infantile cerebellar-retinal degeneration	BIALLELIC, autosomal or pseudoautosomal	Optic neuropathy	green	3
Infantile cerebellar-retinal degeneration	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial disorders	green	1
Infantile cerebellar-retinal degeneration	BIALLELIC, autosomal or pseudoautosomal	Ataxia and cerebellar anomalies - narrow panel	amber	4
INFANTILE CEREBELLAR-RETINAL DEGENERATION	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Fetal anomalies	amber	1
Infantile cerebellar-retinal degeneration	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Severe Paediatric Disorders	green	2
Infantile cerebellar-retinal degeneration	BIALLELIC, autosomal or pseudoautosomal	Possible mitochondrial disorder - nuclear genes	green	1
Infantile cerebellar-retinal degeneration	BIALLELIC, autosomal or pseudoautosomal	Inborn errors of metabolism	green	1
Infantile cerebellar-retinal degeneration	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Undiagnosed metabolic disorders	green	1
Infantile cerebellar-retinal degeneration	BIALLELIC, autosomal or pseudoautosomal	Retinal disorders	green	1

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g2p/phenotype	Functional consequence	Allelic requirement	Panel	Confidence	Literature
INFANTILE CEREBELLAR-RETINAL DEGENERATION	SO_0002317	biallelic_autosomal	DD	strong	29564393;29577077;31106992;22405087;28545339
INFANTILE CEREBELLAR-RETINAL DEGENERATION	SO_0002317	biallelic_autosomal	Eye	definitive	29564393;29577077;31106992;22405087;28545339
Optic atrophy 9	SO_0002318	biallelic_autosomal	Eye	strong	28545339;25351951

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Disease/phenotype	Reported protein	Confidence	Literature
Infantile cerebellar-retinal degeneration	Q99798	high	25351951;22405087

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Disease/phenotype	Reported protein	Variant	Confidence	Literature
Infantile cerebellar-retinal degeneration	Q99798	rs786204829	high	25351951
Infantile cerebellar-retinal degeneration	Q99798	rs786204828	high	25351951
Infantile cerebellar-retinal degeneration	Q99798	rs786200924	high	22405087
Optic atrophy 9	Q99798	rs752034900	high	25351951
Optic atrophy 9	Q99798	rs141772938	high	25351951

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Disease/phenotype	Study	Allelic requirement	Classification
No data available in table

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Disease/phenotype	Reported protein	Allele origin	Confidence	Literature
Autosomal recessive isolated optic atrophy	aconitase 2	germline	Assessed	Assessed
Infantile cerebellar-retinal degeneration	aconitase 2	germline	Assessed	Assessed

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Genetic disease