MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Color Vision Defects (D003117)
..Starting node ..COLORBLINDNESS, PARTIAL, DEUTAN SERIES (OMIM:303800)
Child Nodes:
Sister Nodes:
..Achromatopsia 1 (C536021)
..Achromatopsia 2 (C536128)
..Achromatopsia 3 (C536129)
..Achromatopsia 4 (C564206)
..Achromatopsia 5 (C567759)
..ACHROMATOPSIA 7 (OMIM:616517)
..Achromatopsia incomplete, X-linked (C538165)
..Blue cone monochromatism (C536238)
..Colorblindness, Partial Tritanomaly (C564440)
..COLORBLINDNESS, PARTIAL, DEUTAN SERIES (OMIM:303800)
..COLORBLINDNESS, PARTIAL, PROTAN SERIES (OMIM:303900)
..TRITANOPIA (OMIM:190900)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

2744

Name:

COLORBLINDNESS, PARTIAL, DEUTAN SERIES

Definition:

Alternative IDs:

DO:DOID:13909

ParentIDs:

MESH:D003117

TreeNumbers:

C10.597.751.941.256/303800 |C11.270.151.500/303800 |C11.966.256/303800 |C23.888.592.763.941.256/303800

Synonyms:

CBD |DCB |DEUTAN COLORBLINDNESS |DEUTERANOPIA |GREEN COLORBLINDNESS DEUTERANOMALY, INCLUDED

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 303800
MeSH: 303800
OMIM: 303800;
MSeqDR :
Genes: OPN1MW;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0011520	Deuteranomaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000513.2(OPN1MW):c.-112A>C	2652	OPN1MW	Pathogenic	724159983	RCV000011256;	N	Human Phenotype Ontology:HP:0011520,MedGen:C3887938,OMIM:303800	X	153448055	153448055	NC_000023.10:g.153448055A>C	ClinGen:CA255284,OMIM:300821.0005	C0155016 303800 Deuteranopia;
NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys)	2652	OPN1MW	Pathogenic	104894915	RCV000011258;	N	Human Phenotype Ontology:HP:0011520,MedGen:C3887938,OMIM:303800	X	153453428	153453428	X:g.153453428C>A	ClinGen:CA255285,UniProtKB:P04001#VAR_064051,OMIM:300821.0003	C0155016 303800 Deuteranopia;
NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln)	2652	OPN1MW	Pathogenic	104894916	RCV000011255;	N	Human Phenotype Ontology:HP:0011520,MedGen:C3887938,OMIM:303800	X	153461425	153461425	X:g.153461425G>A	ClinGen:CA255283,UniProtKB:P04001#VAR_064053,OMIM:300821.0004	C0155016 303800 Deuteranopia;
NM_001048181.3(OPN1MW2):c.292G>A (p.Ala98Thr)	728458	OPN1MW2	Uncertain significance	782410634	RCV001198129;	N	Human Phenotype Ontology:HP:0011520,MedGen:C3887938,OMIM:303800	X	153490556	153490556	X:g.153490556G>A	-

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