Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Grandparent Node:
Bladder neoplasm (HP:0009725)

Parent Node:
Bladder carcinoma (HP:0002862)

..Starting node
..Transitional cell carcinoma of the bladder (HP:0006740)

Term ID:

6740

Name:

Transitional cell carcinoma of the bladder

Synonym:

Transitional cell bladder carcinoma

Definition:

The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.

Comments:

Reference:

HP:0006740

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	AKT1 CL E G H	207	391	OMIM:114500	Colorectal cancer	.	54
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	APC CL E G H	324	583	OMIM:114500	Colorectal cancer	.	3179
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	AURKA CL E G H	6790	11393	OMIM:114500	Colorectal cancer	.	1
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	AXIN2 CL E G H	8313	904	OMIM:114500	Colorectal cancer	.	435
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	BAX CL E G H	581	959	OMIM:114500	Colorectal cancer	.	4
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	BRAF CL E G H	673	1097	OMIM:114500	Colorectal cancer	.	276
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	BUB1 CL E G H	699	1148	OMIM:114500	Colorectal cancer	.	5
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	BUB1B CL E G H	701	1149	OMIM:114500	Colorectal cancer	.	76
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	CCND1 CL E G H	595	1582	OMIM:114500	Colorectal cancer	.	1
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	CHEK2 CL E G H	11200	16627	OMIM:114500	Colorectal cancer	.	833
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	CTNNB1 CL E G H	1499	2514	OMIM:114500	Colorectal cancer	.	88
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	DCC CL E G H	1630	2701	OMIM:114500	Colorectal cancer	.	36
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	DLC1 CL E G H	10395	2897	OMIM:114500	Colorectal cancer	.	11
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	EP300 CL E G H	2033	3373	OMIM:114500	Colorectal cancer	.	250
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	FGFR3 CL E G H	2261	3690	OMIM:109800	Bladder cancer	.	145
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	FGFR3 CL E G H	2261	3690	OMIM:114500	Colorectal cancer	.	145
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	FLCN CL E G H	201163	27310	OMIM:114500	Colorectal cancer	.	332
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	HRAS CL E G H	3265	5173	OMIM:109800	Bladder cancer	.	113
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	KRAS CL E G H	3845	6407	OMIM:109800	Bladder cancer	.	196
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	MCC CL E G H	4163	6935	OMIM:114500	Colorectal cancer	.	6
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	MLH3 CL E G H	27030	7128	OMIM:114500	Colorectal cancer	.	131
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	NRAS CL E G H	4893	7989	OMIM:114500	Colorectal cancer	.	102
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	PDGFRL CL E G H	5157	8805	OMIM:114500	Colorectal cancer	.	2
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	PIK3CA CL E G H	5290	8975	OMIM:114500	Colorectal cancer	.	162
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	PLA2G2A CL E G H	5320	9031	OMIM:114500	Colorectal cancer	.	1
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	PTPN12 CL E G H	5782	9645	OMIM:114500	Colorectal cancer	.	1
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	PTPRJ CL E G H	5795	9673	OMIM:114500	Colorectal cancer	.	3
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	RAD54B CL E G H	25788	17228	OMIM:114500	Colorectal cancer	.	2
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	RB1 CL E G H	5925	9884	OMIM:109800	Bladder cancer	.	365
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	SRC CL E G H	6714	11283	OMIM:114500	Colorectal cancer	.	15
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	TLR2 CL E G H	7097	11848	OMIM:114500	Colorectal cancer	.	5
HP:0006740	HP:0006740	Transitional cell carcinoma of the bladder	0	TP53 CL E G H	7157	11998	OMIM:114500	Colorectal cancer	.	911

Genes (32) :AKT1 APC AURKA AXIN2 BAX BRAF BUB1 BUB1B CCND1 CHEK2 CTNNB1 DCC DLC1 EP300 FGFR3 FLCN HRAS KRAS MCC MLH3 NRAS PDGFRL PIK3CA PLA2G2A PTEN PTPN12 PTPRJ RAD54B RB1 SRC TLR2 TP53

Diseases (5) :OMIM:114500 OMIM:615109 OMIM:109800 OMIM:615108 OMIM:158350

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen