Human Phenotype Ontology

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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

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

Parent Node:
Non-small cell lung carcinoma (HP:0030358)

..Starting node
..Lung adenocarcinoma (HP:0030078)

Term ID:

30078

Name:

Lung adenocarcinoma

Synonym:

Definition:

Comments:

Reference:

HP:0030078

Genes and Diseases:

Child Nodes:

Sister Nodes:

Large cell lung carcinoma (HP:0030360)

Squamous cell lung carcinoma (HP:0030359)

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:0030078	HP:0030078	Lung adenocarcinoma	0	BAP1 CL E G H	8314	950	OMIM:614327	Tumor predisposition syndrome	.	184
HP:0030078	HP:0030078	Lung adenocarcinoma	0	BRAF CL E G H	673	1097	OMIM:211980	Lung cancer, susceptibility to	.	276
HP:0030078	HP:0030078	Lung adenocarcinoma	0	CASP8 CL E G H	841	1509	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0030078	HP:0030078	Lung adenocarcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0030078	HP:0030078	Lung adenocarcinoma	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0030078	HP:0030078	Lung adenocarcinoma	0	CYP2A6 CL E G H	1548	2610	OMIM:211980	Lung cancer, susceptibility to	.	6
HP:0030078	HP:0030078	Lung adenocarcinoma	0	EGFR CL E G H	1956	3236	OMIM:211980	Lung cancer, susceptibility to	.	257
HP:0030078	HP:0030078	Lung adenocarcinoma	0	ERBB2 CL E G H	2064	3430	OMIM:211980	Lung cancer, susceptibility to	.	77
HP:0030078	HP:0030078	Lung adenocarcinoma	0	ERCC6 CL E G H	2074	3438	OMIM:211980	Lung cancer, susceptibility to	.	199
HP:0030078	HP:0030078	Lung adenocarcinoma	0	FASLG CL E G H	356	11936	OMIM:211980	Lung cancer, susceptibility to	.	37
HP:0030078	HP:0030078	Lung adenocarcinoma	0	IRF1 CL E G H	3659	6116	OMIM:211980	Lung cancer, susceptibility to	.	2
HP:0030078	HP:0030078	Lung adenocarcinoma	0	KRAS CL E G H	3845	6407	OMIM:211980	Lung cancer, susceptibility to	.	196
HP:0030078	HP:0030078	Lung adenocarcinoma	0	MAP3K8 CL E G H	1326	6860	OMIM:211980	Lung cancer, susceptibility to	.
HP:0030078	HP:0030078	Lung adenocarcinoma	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0030078	HP:0030078	Lung adenocarcinoma	0	PIK3CA CL E G H	5290	8975	OMIM:211980	Lung cancer, susceptibility to	.	162
HP:0030078	HP:0030078	Lung adenocarcinoma	0	PPP2R1B CL E G H	5519	9303	OMIM:211980	Lung cancer, susceptibility to	.	1
HP:0030078	HP:0030078	Lung adenocarcinoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0030078	HP:0030078	Lung adenocarcinoma	0	PRKN CL E G H	5071	8607	OMIM:211980	Lung cancer, susceptibility to	.	138
HP:0030078	HP:0030078	Lung adenocarcinoma	0	SLC22A18 CL E G H	5002	10964	OMIM:211980	Lung cancer, susceptibility to	.	3
HP:0030078	HP:0030078	Lung adenocarcinoma	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0030078	HP:0030078	Lung adenocarcinoma	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0030078	HP:0030078	Lung adenocarcinoma	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0030078	HP:0030078	Lung adenocarcinoma	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (22) :BAP1 BRAF CASP8 CDKN2A CTNNB1 CYP2A6 EGFR ERBB2 ERCC6 FASLG IRF1 KRAS MAP3K8 NDUFAF6 PIK3CA PPP2R1B PRKAR1A PRKN SLC22A18 TERT TP53 ZNRF3

Diseases (5) :OMIM:614327 OMIM:211980 ORPHA:1501 OMIM:618913 OMIM:151623

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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