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
ENSG00000228716	DHFR	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
Vertex-wise cortical thickness	van der Meer D et al, 2021	5_80654962_A_G (rs1650697)	1.000e-27	0.529	33748
Cortical thickness	Shadrin AA et al, 2021	5_80651612_A_G (rs863216)	1.000e-17	0.541	35657
Cortical thickness [Lateral occipital]	Hofer E et al, 2020	5_80637274_A_G (rs245100)	1.000e-15	0.521	22163
Brain morphology (MOSTest)	van der Meer D et al, 2020	5_80651612_A_G (rs863216)	4.000e-15	0.369	26502
Brain morphology (MOSTest)	van der Meer D et al, 2020	5_80651612_A_G (rs863216)	4.000e-15	0.369	26502
Height	Kichaev G et al, 2018	5_80604103_C_G (rs2115014)	2.000e-12	0.311	458000
Huntington's disease progression	Hensman Moss DJ et al, 2017	5_80619201_G_A (rs1232027)	1.000e-10	0.151	1989
Huntington's disease progression	Hensman Moss DJ et al, 2017	5_80619201_G_A (rs1232027)	1.000e-10	0.151	1989
Cortical thickness (MOSTest)	van der Meer D et al, 2020	5_80651612_A_G (rs863216)	2.000e-10	0.432	26502
Cortical thickness (MOSTest)	van der Meer D et al, 2020	5_80651612_A_G (rs863216)	2.000e-10	0.432	26502

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Disease/phenotype	Variant ID (RSID)	rsID	HGVS ID	ClinVar ID	Clinical significance	Review status
Constitutional megaloblastic anemia with severe neurologic disease	5_80654889_TGCAGCGGCC_T	rs758960105	NC_000005.9:g.79950709_79950717del	RCV001001678	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80654908_G_GCAGCGCCCC	rs60484572	NC_000005.9:g.79950741_79950749dup	RCV001801492	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80654880_TGCAGCGGCTGCAGCGGCC_T	rs201874762	NC_000005.9:g.79950708_79950725delTGCAGCGGCCGCAGCGGC	RCV001000293	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80654905_G_C	rs2001675	NC_000005.10:g.80654905G>C	RCV001803978	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80654748_G_A	rs6151597	NC_000005.10:g.80654748G>A	RCV001287831	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80654889_T_C	rs2405875	NC_000005.10:g.80654889T>C	RCV001804118	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80654877_CGCTGCAGCG_C	rs758595508	NC_000005.10:g.80654880_80654888TGCAGCGGC[1]	RCV001287743	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80654922_GCCCCCAGCT_G	rs3045983	NC_000005.9:g.79950745_79950753delCCAGCTCCC	RCV001285035	benign	criteria provided, single submitter
Constitutional megaloblastic anemia with severe neurologic disease	5_80649393_G_A	rs387906619	NC_000005.10:g.80649393G>A	RCV000022524	pathogenic	no assertion criteria provided
Constitutional megaloblastic anemia with severe neurologic disease	5_80654962_A_G	rs1650697	NC_000005.10:g.80654962A>G	RCV001285036	benign	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
Dihydrofolate reductase deficiency	BIALLELIC, autosomal or pseudoautosomal	Neurotransmitter disorders	green	4
Megaloblastic anemia due to dihydrofolate reductase deficiency	BIALLELIC, autosomal or pseudoautosomal	Severe Paediatric Disorders	green	1
Megaloblastic anemia due to dihydrofolate reductase deficiency	BIALLELIC, autosomal or pseudoautosomal	Cytopenias and congenital anaemias	green	1
Megaloblastic anemia due to dihydrofolate reductase deficiency	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability	green	0
Megaloblastic anemia due to dihydrofolate reductase deficiency	BIALLELIC, autosomal or pseudoautosomal	Neurotransmitter disorders	green	4
MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY	BIALLELIC, autosomal or pseudoautosomal	DDG2P	green	2
Megaloblastic anemia due to dihydrofolate reductase deficiency	BIALLELIC, autosomal or pseudoautosomal	Cerebral folate deficiency	green	3
Megaloblastic anemia due to dihydrofolate reductase deficiency	BIALLELIC, autosomal or pseudoautosomal	Rare anaemia	green	2

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g2p/phenotype	Functional consequence	Allelic requirement	Panel	Confidence	Literature
MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY	SO_0002318	biallelic_autosomal	DD	definitive	21310277;21310276

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Disease/phenotype	Reported protein	Confidence	Literature
Megaloblastic anemia due to dihydrofolate reductase deficiency	P00374	high	21310276;21310277

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Disease/phenotype	Reported protein	Variant	Confidence	Literature
Megaloblastic anemia due to dihydrofolate reductase deficiency	P00374	rs121913223	high	21310277
Megaloblastic anemia due to dihydrofolate reductase deficiency	P00374	rs387906619	high	21310276

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Disease/phenotype	Study	Allelic requirement	Classification
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Disease/phenotype	Reported protein	Allele origin	Confidence	Literature
Constitutional megaloblastic anemia with severe neurologic disease	dihydrofolate reductase	germline	Assessed	Assessed

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Genetic disease