Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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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

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: Genetic Diseases, X-Linked (D040181)
Parent Node: Neoplasms, Germ Cell and Embryonal (D009373)
Parent Node: Testicular Neoplasms (D013736)
..Starting node ..Testicular Germ Cell Tumor 1 (C564559)
Child Nodes:
Sister Nodes:
..Male Germ Cell Tumor (C564777)
..Sertoli-Leydig Cell Tumor (D018310) 6
..Teratoma, Testicular (C562472)
..Testicular Germ Cell Tumor (C563236)
..Testicular Germ Cell Tumor 1 (C564559)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10934

Name:

Testicular Germ Cell Tumor 1

Definition:

Alternative IDs:

OMIM:300228

ParentIDs:

MESH:D009373|MESH:D013736|MESH:D040181

TreeNumbers:

C04.557.465/C564559 |C04.588.322.762/C564559 |C04.588.945.440.915/C564559 |C12.294.260.937/C564559 |C12.758.409.937/C564559 |C16.320.322/C564559 |C19.344.762/C564559 |C19.391.829.782/C564559

Synonyms:

TGCT1

Slim Mappings:

Cancer|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (male)

Reference:

MedGen: C564559
MeSH: C564559
OMIM: 300228;

Genes: TGCT1;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0100728	Germ cell neoplasia

Disease Causing ClinVar Variants