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:0004796	HP:0004796	Gastrointestinal obstruction	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease		135
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor		3179
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease		192
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome		1
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor		88
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease		13
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease		67
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome		67
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease		55
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome		55
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease		77
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease		12
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas		96
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas		102
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome		159
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease		59
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		2
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome		57
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor		327
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor		327
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever		281
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome		91
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		187
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis		144
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease		4
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor		337
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis		28
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease		572
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor		304
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome		237
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor		237
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor		237
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome		147
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor		147
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor		147
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome		129
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease		1
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease		2
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease		22
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome		61
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease		1
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004796	HP:0004796	Gastrointestinal obstruction	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor		177
HP:0004796	HP:0005240	Esophageal obstruction	1	CL E G H
HP:0004796	HP:0005214	Intestinal obstruction	1	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	135
HP:0004796	HP:0005214	Intestinal obstruction	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	3179
HP:0004796	HP:0005214	Intestinal obstruction	1	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	192
HP:0004796	HP:0005249	Functional intestinal obstruction	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	5769
HP:0004796	HP:0005249	Functional intestinal obstruction	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	7642
HP:0004796	HP:0005214	Intestinal obstruction	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0004796	HP:0005214	Intestinal obstruction	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0004796	HP:0005214	Intestinal obstruction	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0004796	HP:0005249	Functional intestinal obstruction	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	289
HP:0004796	HP:0005214	Intestinal obstruction	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0005214	Intestinal obstruction	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0005214	Intestinal obstruction	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0004796	HP:0005214	Intestinal obstruction	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0004796	HP:0005214	Intestinal obstruction	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0005214	Intestinal obstruction	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0004796	HP:0005214	Intestinal obstruction	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	88
HP:0004796	HP:0005214	Intestinal obstruction	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0005214	Intestinal obstruction	1	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	13
HP:0004796	HP:0005214	Intestinal obstruction	1	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	67
HP:0004796	HP:0005214	Intestinal obstruction	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	67
HP:0004796	HP:0005214	Intestinal obstruction	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0005214	Intestinal obstruction	1	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	55
HP:0004796	HP:0005214	Intestinal obstruction	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	55
HP:0004796	HP:0005214	Intestinal obstruction	1	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	77
HP:0004796	HP:0005214	Intestinal obstruction	1	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	12
HP:0004796	HP:0005249	Functional intestinal obstruction	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0004796	HP:0005214	Intestinal obstruction	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0004796	HP:0005214	Intestinal obstruction	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0004796	HP:0005214	Intestinal obstruction	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0004796	HP:0005214	Intestinal obstruction	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0004796	HP:0005214	Intestinal obstruction	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0004796	HP:0005214	Intestinal obstruction	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0004796	HP:0005214	Intestinal obstruction	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0004796	HP:0005214	Intestinal obstruction	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004796	HP:0005214	Intestinal obstruction	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0004796	HP:0005214	Intestinal obstruction	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0005214	Intestinal obstruction	1	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	59
HP:0004796	HP:0005214	Intestinal obstruction	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0005214	Intestinal obstruction	1	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0004796	HP:0005214	Intestinal obstruction	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0004796	HP:0005214	Intestinal obstruction	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0004796	HP:0005214	Intestinal obstruction	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0004796	HP:0005214	Intestinal obstruction	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0004796	HP:0005214	Intestinal obstruction	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0004796	HP:0005214	Intestinal obstruction	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0005214	Intestinal obstruction	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0004796	HP:0005214	Intestinal obstruction	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0004796	HP:0005214	Intestinal obstruction	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type	.	140
HP:0004796	HP:0005214	Intestinal obstruction	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0005214	Intestinal obstruction	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	327
HP:0004796	HP:0005214	Intestinal obstruction	1	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0004796	HP:0005249	Functional intestinal obstruction	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	196
HP:0004796	HP:0005214	Intestinal obstruction	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0004796	HP:0005214	Intestinal obstruction	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0005214	Intestinal obstruction	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	91
HP:0004796	HP:0005214	Intestinal obstruction	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0004796	HP:0005214	Intestinal obstruction	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0004796	HP:0005214	Intestinal obstruction	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0004796	HP:0005214	Intestinal obstruction	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0004796	HP:0005214	Intestinal obstruction	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0004796	HP:0005214	Intestinal obstruction	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0004796	HP:0005214	Intestinal obstruction	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	144
HP:0004796	HP:0005214	Intestinal obstruction	1	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	4
HP:0004796	HP:0005249	Functional intestinal obstruction	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	1349
HP:0004796	HP:0005249	Functional intestinal obstruction	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	192
HP:0004796	HP:0005214	Intestinal obstruction	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	337
HP:0004796	HP:0005214	Intestinal obstruction	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	28
HP:0004796	HP:0005214	Intestinal obstruction	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0004796	HP:0005214	Intestinal obstruction	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0004796	HP:0005214	Intestinal obstruction	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0004796	HP:0005249	Functional intestinal obstruction	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0004796	HP:0005214	Intestinal obstruction	1	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	572
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	304
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	237
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	237
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	147
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	147
HP:0004796	HP:0005214	Intestinal obstruction	1	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	129
HP:0004796	HP:0005214	Intestinal obstruction	1	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0004796	HP:0005214	Intestinal obstruction	1	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	2
HP:0004796	HP:0005214	Intestinal obstruction	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0004796	HP:0005214	Intestinal obstruction	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0005214	Intestinal obstruction	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0004796	HP:0005214	Intestinal obstruction	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0005214	Intestinal obstruction	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0004796	HP:0005214	Intestinal obstruction	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0004796	HP:0005214	Intestinal obstruction	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0004796	HP:0005249	Functional intestinal obstruction	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	504
HP:0004796	HP:0005214	Intestinal obstruction	1	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	22
HP:0004796	HP:0005214	Intestinal obstruction	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0004796	HP:0005214	Intestinal obstruction	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0004796	HP:0005214	Intestinal obstruction	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	61
HP:0004796	HP:0005214	Intestinal obstruction	1	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0004796	HP:0005214	Intestinal obstruction	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0004796	HP:0005214	Intestinal obstruction	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0005214	Intestinal obstruction	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0004796	HP:0005214	Intestinal obstruction	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0004796	HP:0005214	Intestinal obstruction	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0004796	HP:0005214	Intestinal obstruction	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0004796	HP:0005249	Functional intestinal obstruction	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	911
HP:0004796	HP:0005214	Intestinal obstruction	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004796	HP:0005214	Intestinal obstruction	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor		177
HP:0004796	HP:0005250	High intestinal obstruction	2	CL E G H
HP:0004796	HP:0005234	Neonatal intestinal obstruction	2	CL E G H
HP:0004796	HP:0002595	Ileus	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0004796	HP:0002595	Ileus	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0002595	Ileus	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0002595	Ileus	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0004796	HP:0002595	Ileus	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0004796	HP:0002595	Ileus	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0002595	Ileus	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0002595	Ileus	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0002595	Ileus	2	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0004796	HP:0002595	Ileus	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0004796	HP:0002595	Ileus	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0004796	HP:0002595	Ileus	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0004796	HP:0002595	Ileus	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	.	32
HP:0004796	HP:0002595	Ileus	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0002595	Ileus	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0002595	Ileus	2	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0004796	HP:0002595	Ileus	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0004796	HP:0002595	Ileus	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0004796	HP:0002595	Ileus	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0004796	HP:0002595	Ileus	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0002595	Ileus	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0002595	Ileus	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0002595	Ileus	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0004796	HP:0002595	Ileus	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0004796	HP:0002595	Ileus	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0004796	HP:0002595	Ileus	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0004796	HP:0002595	Ileus	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0002595	Ileus	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0004796	HP:0002595	Ileus	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0002595	Ileus	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0004796	HP:0002595	Ileus	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0004796	HP:0002595	Ileus	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0004796	HP:0002595	Ileus	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0004796	HP:0002595	Ileus	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent	61
HP:0004796	HP:0002595	Ileus	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0002595	Ileus	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0004796	HP:0002595	Ileus	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0004796	HP:0002595	Ileus	2	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent	177
HP:0004796	HP:0010676	Mechanical ileus	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0010676	Mechanical ileus	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0010676	Mechanical ileus	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0004796	HP:0010676	Mechanical ileus	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0004796	HP:0010676	Mechanical ileus	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0010676	Mechanical ileus	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0010676	Mechanical ileus	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0002590	Paralytic ileus	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0004796	HP:0010676	Mechanical ileus	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0004796	HP:0010676	Mechanical ileus	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0010676	Mechanical ileus	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0010676	Mechanical ileus	3	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0004796	HP:0010676	Mechanical ileus	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0004796	HP:0002590	Paralytic ileus	3	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0004796	HP:0010676	Mechanical ileus	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0010676	Mechanical ileus	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0010676	Mechanical ileus	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0002590	Paralytic ileus	3	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0004796	HP:0002590	Paralytic ileus	3	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0004796	HP:0010676	Mechanical ileus	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0004796	HP:0010676	Mechanical ileus	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0010676	Mechanical ileus	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0004796	HP:0010676	Mechanical ileus	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0010676	Mechanical ileus	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0004796	HP:0010676	Mechanical ileus	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0010676	Mechanical ileus	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0004796	HP:0010676	Mechanical ileus	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0004796	HP:0004401	Meconium ileus	4	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004401	Meconium ileus	4	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0004401	Meconium ileus	4	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0004796	HP:0004401	Meconium ileus	4	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0004796	HP:0004401	Meconium ileus	4	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004401	Meconium ileus	4	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004401	Meconium ileus	4	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0004401	Meconium ileus	4	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0004796	HP:0004401	Meconium ileus	4	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0004401	Meconium ileus	4	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0004401	Meconium ileus	4	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus	.	12
HP:0004796	HP:0004401	Meconium ileus	4	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0004796	HP:0004401	Meconium ileus	4	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0004401	Meconium ileus	4	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0004796	HP:0004401	Meconium ileus	4	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0004796	HP:0004401	Meconium ileus	4	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0004796	HP:0004401	Meconium ileus	4	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0004796	HP:0004401	Meconium ileus	4	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0004796	HP:0004401	Meconium ileus	4	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004401	Meconium ileus	4	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0004796	HP:0004401	Meconium ileus	4	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0004796	HP:0004401	Meconium ileus	4	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0004796	HP:0004401	Meconium ileus	4	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13