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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

Hearing Loss Disease Portal

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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: Kidney Neoplasms (D007680)
Parent Node: Rhabdoid Tumor (D018335)
..Starting node ..Rhabdoid Tumor Predisposition Syndrome 1 (C563738)
Child Nodes:
Sister Nodes:
..Rhabdoid Tumor Predisposition Syndrome 1 (C563738)
..Rhabdoid Tumor Predisposition Syndrome 2 (C567643)
..Teratoid Tumor, Atypical (C563737)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9814

Name:

Rhabdoid Tumor Predisposition Syndrome 1

Definition:

Alternative IDs:

OMIM:609322

ParentIDs:

MESH:D001932|MESH:D007680|MESH:D018335

TreeNumbers:

C04.557.435.710/C563738 |C04.588.614.250.195/C563738 |C04.588.945.947.535/C563738 |C10.228.140.211/C563738 |C10.551.240.250/C563738 |C12.758.820.750/C563738 |C12.777.419.473/C563738 |C13.351.937.820.535/C563738 |C13.351.968.419.473/C563738

Synonyms:

Slim Mappings:

Cancer|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C563738
MeSH: C563738
OMIM: 609322;

Genes: SMARCB1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0030392	Choroid plexus carcinoma
3	HP:0002885	Medulloblastoma

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_003073.4(SMARCB1):c.591delG (p.Gln198Argfs)	6598	SMARCB1	Pathogenic	587776678	RCV000008488;	N	MedGen:C1836327,OMIM:609322	22	24145572	24145572	NM_003073.4:c.591delG	NP_003064.2:p.Gln198Argfs		OMIM Allelic Variant:601607.0003	C1836327 609322 Rhabdoid tumor predisposition syndrome 1