Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Brain Neoplasms (D001932)
Parent Node: Glioma (D005910)
..Starting node ..Glioma of Brain, Familial (C564230)
Child Nodes:
Sister Nodes:
..Astrocytoma (D001254) 5
..Ependymoma (D004806) 3
..Ganglioglioma (D018303)
..Glioma of Brain, Familial (C564230)
..Gliosarcoma (D018316)
..Medulloblastoma (D008527)
..Oligodendroglioma (D009837)
..Optic Nerve Glioma (D020339)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4648

Name:

Glioma of Brain, Familial

Definition:

Alternative IDs:

ParentIDs:

MESH:D001932|MESH:D005910

TreeNumbers:

C04.557.465.625.600.380/C564230 |C04.557.470.670.380/C564230 |C04.557.580.625.600.380/C564230 |C04.588.614.250.195/C564230 |C10.228.140.211/C564230 |C10.551.240.250/C564230

Synonyms:

Slim Mappings:

Cancer|Nervous system disease

Reference:

MedGen: C564230
MeSH: C564230
OMIM: 137800;

Genes: ERBB2; IDH1; TP53;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009592	Astrocytoma
3	HP:0002888	Ependymoma
4	HP:0012174	Glioblastoma multiforme
5	HP:0001428	Somatic mutation

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_001005862.2(ERBB2):c.2650G>A (p.Glu884Lys)	2064	ERBB2	Pathogenic	28933368	RCV000014892;	N	MedGen:C2750850,OMIM:137800	17	37881974	37881974	NM_001005862.2:c.2650G>A	NP_001005862.1:p.Glu884Lys	NC_000017.10:g.37881974G>A	OMIM Allelic Variant:164870.0006	C2750850 137800 Glioma susceptibility 1
NM_015869.4(PPARG):c.1431C>T (p.His477=)	5468	PPARG	Benign;Likely benign	3856806	RCV000008615; RCV000118043;	N	MedGen:C2750850,OMIM:137800; MedGen:CN169374	3	12475557	12475557	NM_015869.4:c.1431C>T	NP_056953.2:p.His477=	NC_000003.11:g.12475557C>T	OMIM Allelic Variant:601487.0010	C2750850 137800 Glioma susceptibility 1; CN169374 not specified
NM_000546.5(TP53):c.542G>T (p.Arg181Leu)	7157	TP53	risk factor	397514495	RCV000032610;	N	MedGen:C2750850,OMIM:137800	17	7578388	7578388	NM_000546.5:c.542G>T	NP_000537.3:p.Arg181Leu	NC_000017.10:g.7578388C>A,NC_000017.10:g.7578388C>T	OMIM Allelic Variant:191170.0042	C2750850 137800 Glioma susceptibility 1