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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: Neoplasms, Germ Cell and Embryonal (D009373)
Parent Node: Testicular Neoplasms (D013736)
..Starting node ..Testicular Germ Cell Tumor (C563236)
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:

10933

Name:

Testicular Germ Cell Tumor

Definition:

Alternative IDs:

OMIM:273300

ParentIDs:

MESH:D009373|MESH:D013736

TreeNumbers:

C04.557.465/C563236 |C04.588.322.762/C563236 |C04.588.945.440.915/C563236 |C12.294.260.937/C563236 |C12.758.409.937/C563236 |C19.344.762/C563236 |C19.391.829.782/C563236

Synonyms:

Slim Mappings:

Cancer|Endocrine system disease|Urogenital disease (male)

Reference:

MedGen: C563236
MeSH: C563236
OMIM: 273300;

Genes: AF8T; BCL10; FGFR3; KIT; STK11;

Phenotypes

1	HP:0001939	Abnormality of metabolism/homeostasis
2	HP:0000028	Cryptorchidism
3	HP:0000133	Gonadal dysgenesis
4	HP:0001428	Somatic mutation
5	HP:0003745	Sporadic
6	HP:0009792	Teratoma

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_003921.4(BCL10):c.488C>T (p.Thr163Met)	8915	BCL10	Pathogenic	370432633	RCV000023309;	N	Gene:8093,MedGen:C0153594,OMIM:273300,SNOMED CT:363449006	1	85733524	85733524	NM_003921.4:c.488C>T	NP_003912.1:p.Thr163Met	NC_000001.10:g.85733524G>A	OMIM Allelic Variant:603517.0018	C0153594 273300 Malignant tumor of testis
NM_000222.2(KIT):c.2446G>C (p.Asp816His)	3815	KIT	Pathogenic	121913506	RCV000014877;	N	Gene:8093,MedGen:C0153594,OMIM:273300,SNOMED CT:363449006	4	55599320	55599320	NM_000222.2:c.2446G>C	NP_000213.1:p.Asp816His	NC_000004.11:g.55599320G>C,NC_000004.11:g.55599320G>T	OMIM Allelic Variant:164920.0021	C0153594 273300 Malignant tumor of testis
NM_000455.4(STK11):c.488G>A (p.Gly163Asp)	6794	STK11	Pathogenic	137853078	RCV000007874;	N	Gene:8093,MedGen:C0153594,OMIM:273300,SNOMED CT:363449006	19	1220395	1220395	NM_000455.4:c.488G>A	NP_000446.1:p.Gly163Asp	NC_000019.9:g.1220395G>A	OMIM Allelic Variant:602216.0011	C0153594 273300 Malignant tumor of testis