Human Phenotype Ontology

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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

Grandparent Node:
Abnormal tracheobronchial morphology (HP:0005607)

Grandparent Node:
Neoplasm of the lung (HP:0100526)

Parent Node:
Neoplasm of the tracheobronchial system (HP:0100552)

..Starting node
..Alveolar cell carcinoma (HP:0006519)

Term ID:

6519

Name:

Alveolar cell carcinoma

Synonym:

Definition:

Adenocarcinoma of the Bronchus.

Comments:

Reference:

HP:0006519

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neoplasm of the trachea (HP:0100551)

Pleuropulmonary blastoma (HP:0100528)

Tracheobronchial leiomyomatosis (HP:0006524)

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:0006519	HP:0006519	Alveolar cell carcinoma	0	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to	.	77
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to	.	199
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to	.	2
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to	.	196
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to	.
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.	133
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to	.	162
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to	.	1
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to	.	138
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.	10
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.	33
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to	.	3
HP:0006519	HP:0006519	Alveolar cell carcinoma	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.	238

Genes (18) :BRAF CASP8 CYP2A6 EGFR ERBB2 ERCC6 FASLG IRF1 KRAS MAP3K8 MUC5B PIK3CA PPP2R1B PRKN SFTPA2 SFTPC SLC22A18 TERT

Diseases (2) :OMIM:211980 OMIM:178500

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

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