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Hello! Guest! Please Login or Register! Clinician Mode

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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Macular Degeneration (D008268)
..Starting node ..Stargardt disease 4 (C535521)
Child Nodes:
Sister Nodes:
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Fundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..Geographic Atrophy (D057092)
..Juvenile macular degeneration and hypotrichosis (C537698)
..Macular Degeneration, Age-Related, 1 (C566411)
..Macular Degeneration, Age-Related, 10 (C566935)
..Macular Degeneration, Age-Related, 11 (C567450)
..Macular Degeneration, Age-Related, 2 (C562479)
..Macular Degeneration, Age-Related, 3 (C563838)
..Macular Degeneration, Age-Related, 4 (C565196)
..Macular Degeneration, Age-Related, 6 (C563674)
..Macular Degeneration, Age-Related, 7 (C565718)
..Macular Degeneration, Age-Related, 9 (C566958)
..Macular dystrophy, concentric annular (C537833)
..MACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..Macular Dystrophy, X-Linked (C564110)
..Macular Edema (D008269)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..OCCULT MACULAR DYSTROPHY (OMIM:613587)
..Stargardt disease 1 (C535804)
..Stargardt disease 3 (C535805)
..Stargardt disease 4 (C535521)
..Stargardt Macular Degeneration (C580470)
..Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..Vitelliform Macular Dystrophy (D057826) 2
..Wet Macular Degeneration (D057135)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10646

Name:

Stargardt disease 4

Definition:

Alternative IDs:

OMIM:603786

ParentIDs:

MESH:D008268

TreeNumbers:

C11.768.585.439/C535521

Synonyms:

STGD4

Slim Mappings:

Eye disease

Reference:

MedGen: C535521
MeSH: C535521
OMIM: 603786;

Genes: AF8T; PROM1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000608	Macular degeneration
3	HP:0007663	Reduced visual acuity
4	HP:0012045	Retinal flecks

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_006017.2(PROM1):c.1117C>T (p.Arg373Cys)	8842	PROM1	Pathogenic	137853006	RCV000005960; RCV000005961; RCV000005962;	N	MedGen:C0339512,OMIM:608051,ORPHA:319640,SNOMED CT:232050001; MedGen:C1863534,OMIM:603786; MedGen:C2675210,OMIM:612657	4	16014922	16014922	NM_006017.2:c.1117C>T	NP_006008.1:p.Arg373Cys	NC_000004.11:g.16014922G>A	OMIM Allelic Variant:604365.0003	C0339512 608051 Bull's eye macular dystrophy; C2675210 612657 Cone-rod dystrophy 12; C1863534 603786 Stargardt disease 4