Human Phenotype Ontology

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:0002101	HP:0002101	Abnormal lung lobation	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0002101	HP:0002101	Abnormal lung lobation	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0002101	HP:0002101	Abnormal lung lobation	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0002101	HP:0002101	Abnormal lung lobation	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0002101	HP:0002101	Abnormal lung lobation	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0002101	HP:0002101	Abnormal lung lobation	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0002101	HP:0002101	Abnormal lung lobation	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0002101	HP:0002101	Abnormal lung lobation	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0002101	HP:0002101	Abnormal lung lobation	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0002101	HP:0002101	Abnormal lung lobation	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0002101	HP:0002101	Abnormal lung lobation	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0002101	HP:0002101	Abnormal lung lobation	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0002101	HP:0002101	Abnormal lung lobation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002101	HP:0002101	Abnormal lung lobation	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0002101	HP:0002101	Abnormal lung lobation	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040283 - Occasional	2
HP:0002101	HP:0002101	Abnormal lung lobation	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002101	HP:0002101	Abnormal lung lobation	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins	.	61
HP:0002101	HP:0002101	Abnormal lung lobation	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0002101	HP:0002101	Abnormal lung lobation	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0002101	HP:0002101	Abnormal lung lobation	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.	28
HP:0002101	HP:0002101	Abnormal lung lobation	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0002101	HP:0002101	Abnormal lung lobation	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0002101	HP:0002101	Abnormal lung lobation	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0002101	HP:0002101	Abnormal lung lobation	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.	73
HP:0002101	HP:0002101	Abnormal lung lobation	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1	.
HP:0002101	HP:0002101	Abnormal lung lobation	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0002101	HP:0002101	Abnormal lung lobation	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0002101	HP:0002101	Abnormal lung lobation	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0002101	HP:0002101	Abnormal lung lobation	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002101	HP:0002101	Abnormal lung lobation	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0002101	HP:0002101	Abnormal lung lobation	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002101	HP:0002101	Abnormal lung lobation	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0002101	HP:0002101	Abnormal lung lobation	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0002101	HP:0002101	Abnormal lung lobation	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0002101	HP:0002101	Abnormal lung lobation	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0002101	HP:0002101	Abnormal lung lobation	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0002101	HP:0002101	Abnormal lung lobation	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0002101	HP:0002101	Abnormal lung lobation	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0002101	HP:0002101	Abnormal lung lobation	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0002101	HP:0002101	Abnormal lung lobation	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002101	HP:0002101	Abnormal lung lobation	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0002101	HP:0002101	Abnormal lung lobation	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002101	HP:0002101	Abnormal lung lobation	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0002101	HP:0002101	Abnormal lung lobation	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0002101	HP:0002101	Abnormal lung lobation	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002101	HP:0002101	Abnormal lung lobation	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0002101	HP:0002101	Abnormal lung lobation	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040282 - Frequent	177
HP:0002101	HP:0002101	Abnormal lung lobation	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0002101	HP:0033998	Single-lobed right lung	1	CL E G H
HP:0002101	HP:0033242	Horseshoe lung	1	CL E G H
HP:0002101	HP:0033183	Bilobed right lung	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6		247
HP:0002101	HP:0011861	Bilateral trilobed lung	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome		3
HP:0002101	HP:0033255	Congenital lobar overinflation	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0002101	HP:0011861	Bilateral trilobed lung	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0002101	HP:0011861	Bilateral trilobed lung	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39