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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

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Disease Browser
Parent Node: Xeroderma Pigmentosum (D014983)
..Starting node ..Xeroderma Pigmentosum, Complementation Group E (C564732)
Child Nodes:
Sister Nodes:
..De Sanctis-Cacchione syndrome (C535992)
..Trichothiodystrophy, Type 1 (C564734)
..UV-SENSITIVE SYNDROME 1 (OMIM:600630)
..Xeroderma Pigmentosum B/Cockayne Syndrome (C567061)
..Xeroderma Pigmentosum IX (C564731)
..Xeroderma Pigmentosum, Autosomal Dominant, Mild (C565989)
..Xeroderma Pigmentosum, Complementation Group B (C562590)
..Xeroderma Pigmentosum, Complementation Group C (C567886)
..Xeroderma Pigmentosum, Complementation Group D (C562591)
..Xeroderma Pigmentosum, Complementation Group E (C564732)
..Xeroderma Pigmentosum, Complementation Group F (C562592)
..Xeroderma Pigmentosum, Complementation Group G (C562593)
..Xeroderma pigmentosum, type 9 (C536765)
..Xeroderma Pigmentosum, Type G/Cockayne Syndrome (C566879)
..Xeroderma pigmentosum, variant type (C536766)
..XFE Progeroid Syndrome (C567043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11824

Name:

Xeroderma Pigmentosum, Complementation Group E

Definition:

Alternative IDs:

OMIM:278740

ParentIDs:

MESH:D014983

TreeNumbers:

C04.834.867/C564732 |C16.131.831.936/C564732 |C16.320.850.970/C564732 |C17.800.600.925/C564732 |C17.800.621.936/C564732 |C17.800.804.936/C564732 |C17.800.827.970/C564732 |C18.452.284.975/C564732

Synonyms:

Xeroderma Pigmentosum V |XP5 |XPE |XP, Group E

Slim Mappings:

Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: C564732
MeSH: C564732
OMIM: 278740;

Genes: DDB2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002671	Basal cell carcinoma
3	HP:0000509	Conjunctivitis
4	HP:0000992	Cutaneous photosensitivity
5	HP:0003079	Defective DNA repair after ultraviolet radiation damage
6	HP:0004334	Dermal atrophy
7	HP:0000656	Ectropion
8	HP:0000621	Entropion
9	HP:0000491	Keratitis
10	HP:0002861	Melanoma
11	HP:0000613	Photophobia
12	HP:0001029	Poikiloderma
13	HP:0006739	Squamous cell carcinoma of the skin
14	HP:0001009	Telangiectasia

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
NM_000107.2(DDB2):c.730A>G (p.Lys244Glu)	1643	DDB2	Pathogenic	121434639	RCV000009332;	N	MedGen:C1848411,OMIM:278740,SNOMED CT:56048001	11	47256335	47256335	NM_000107.2:c.730A>G	NP_000098.1:p.Lys244Glu	NC_000011.9:g.47256335A>G	OMIM Allelic Variant:600811.0001	C1848411 278740 Xeroderma pigmentosum, group E
NM_000107.2(DDB2):c.818G>A (p.Arg273His)	1643	DDB2	Pathogenic	121434640	RCV000009333;	N	MedGen:C1848411,OMIM:278740,SNOMED CT:56048001	11	47256423	47256423	NM_000107.2:c.818G>A	NP_000098.1:p.Arg273His	NC_000011.9:g.47256423G>A	OMIM Allelic Variant:600811.0002	C1848411 278740 Xeroderma pigmentosum, group E
NM_000107.2(DDB2):c.919G>T (p.Asp307Tyr)	1643	DDB2	Pathogenic	121434642	RCV000009335;	N	MedGen:C1848411,OMIM:278740,SNOMED CT:56048001	11	47256859	47256859	NM_000107.2:c.919G>T	NP_000098.1:p.Asp307Tyr	NC_000011.9:g.47256859G>T	OMIM Allelic Variant:600811.0004	C1848411 278740 Xeroderma pigmentosum, group E
NM_000107.2(DDB2):c.937C>T (p.Arg313Ter)	1643	DDB2	Pathogenic	121434641	RCV000009334;	N	MedGen:C1848411,OMIM:278740,SNOMED CT:56048001	11	47256877	47256877	NM_000107.2:c.937C>T	NP_000098.1:p.Arg313Ter	NC_000011.9:g.47256877C>T	OMIM Allelic Variant:600811.0003	C1848411 278740 Xeroderma pigmentosum, group E