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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: Prostatic Neoplasms (D011471)
..Starting node ..PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (OMIM:603688)
Child Nodes:
Sister Nodes:
..Phyllodes Tumor of the Prostate (C549759)
..Prostate cancer, familial (C537243)
..PROSTATE CANCER, HEREDITARY, 1 (OMIM:601518)
..Prostate Cancer, Hereditary, 10 (C567011)
..Prostate Cancer, Hereditary, 11 (C567449)
..Prostate Cancer, Hereditary, 12 (C567510)
..Prostate Cancer, Hereditary, 13 (C567456)
..Prostate Cancer, Hereditary, 14 (C567448)
..Prostate Cancer, Hereditary, 15 (C567447)
..Prostate Cancer, Hereditary, 3 (C563883)
..Prostate Cancer, Hereditary, 4 (C563882)
..Prostate Cancer, Hereditary, 5 (C563744)
..Prostate Cancer, Hereditary, 6 (C563699)
..Prostate Cancer, Hereditary, 7 (C565201)
..Prostate Cancer, Hereditary, 8 (C566426)
..Prostate Cancer, Hereditary, 9 (C567031)
..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
..PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (OMIM:603688)
..Prostatic Neoplasms, Castration-Resistant (D064129)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9344

Name:

PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY

Definition:

Alternative IDs:

ParentIDs:

MESH:D001932|MESH:D011471

TreeNumbers:

C04.588.614.250.195/603688 |C04.588.945.440.770/603688 |C10.228.140.211/603688 |C10.551.240.250/603688 |C12.294.260.750/603688 |C12.294.565.625/603688 |C12.758.409.750/603688

Synonyms:

CAPB |PCBC

Slim Mappings:

Cancer|Nervous system disease|Urogenital disease (male)

Reference:

MedGen: 603688
MeSH: 603688
OMIM: 603688;

Genes: EPHB2;

Phenotypes

1	HP:0100006	Neoplasm of the central nervous system
2	HP:0012125	Prostate cancer

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_004442.7(EPHB2):c.835G>T (p.Ala279Ser)	2048	EPHB2	Pathogenic	35882952	RCV000009059;	N	MedGen:C1863600,OMIM:603688	1	23189553	23189553	NM_004442.7:c.835G>T	NP_004433.2:p.Ala279Ser	NC_000001.10:g.23189553G>T	OMIM Allelic Variant:600997.0002	C1863600 603688 Prostate cancer/brain cancer susceptibility
NM_004442.7(EPHB2):c.2035G>A (p.Asp679Asn)	2048	EPHB2	Pathogenic	28936395	RCV000009060;	N	MedGen:C1863600,OMIM:603688	1	23233346	23233346	NM_004442.7:c.2035G>A	NP_004433.2:p.Asp679Asn	NC_000001.10:g.23233346G>A	OMIM Allelic Variant:600997.0003	C1863600 603688 Prostate cancer/brain cancer susceptibility
NM_004442.7(EPHB2):c.2167C>T (p.Gln723Ter)	2048	EPHB2	Pathogenic	121912582	RCV000009058;	N	MedGen:C1863600,OMIM:603688	1	23234473	23234473	NM_004442.7:c.2167C>T	NP_004433.2:p.Gln723Ter	NC_000001.10:g.23234473C>T	OMIM Allelic Variant:600997.0001	C1863600 603688 Prostate cancer/brain cancer susceptibility
NM_001309193.1(EPHB2):c.3055A>T (p.Lys1019Ter)	2048	EPHB2	risk factor	76826147	RCV000009061;	N	MedGen:C1863600,OMIM:603688	1	23240250	23240250	NM_001309193.1:c.3055A>T	NP_001296122.1:p.Lys1019Ter	NC_000001.10:g.23240250A>T	OMIM Allelic Variant:600997.0004	C1863600 603688 Prostate cancer/brain cancer susceptibility