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

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: Diseases (C)
Parent Node: Euthyroid Goiter (C562732)
Parent Node: Sertoli-Leydig Cell Tumor (D018310)
..Starting node ..GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
Child Nodes:
Sister Nodes:
..Androblastoma of ovary (C537588)
..Arrhenoblastoma--Thyroid Adenoma (C566256)
..GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..Leydig Cell Tumor (D007984) 1
..Sertoli Cell Tumor (D012707)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4746

Name:

GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS

Definition:

Alternative IDs:

ParentIDs:

MESH:C562732|MESH:D018310

TreeNumbers:

C04.557.475.750.847/138800 |C04.588.322.455.648/138800 |C04.588.322.762.500/138800 |C04.588.945.440.915.500/138800 |C12.294.260.937.500/138800 |C12.758.409.937.500/138800 |C13.351.500.056.630.705.648/138800 |C13.351.937.418.685.648/138800 |C19.344.410.648/138800

Synonyms:

EUTHYROID GOITER |GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION |MNG1 |MULTINODULAR GOITER, ADOLESCENT |SIMPLE GOITER

Slim Mappings:

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

Reference:

MedGen: 138800
MeSH: 138800
OMIM: 138800;

Genes: DICER1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000866	Euthyroid multinodular goiter
3	HP:0002895	Papillary thyroid carcinoma

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_177438.2(DICER1):c.2516C>T (p.Ser839Phe)	23405	DICER1	Pathogenic	387906934	RCV000023526;	N	MedGen:C0018022,OMIM:138800	14	95574351	95574351	NM_177438.2:c.2516C>T	NP_803187.1:p.Ser839Phe	NC_000014.8:g.95574351G>A	OMIM Allelic Variant:606241.0009	C0018022 138800 Goiter, multinodular 1, with or without sertoli-leydig cell tumors