Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002027	HP:0002027	Abdominal pain	0	ABCA1 CL E G H	19	31150				ORPHA	1	240	29	600046
HP:0002027	HP:0002027	Abdominal pain	0	ABCG5 CL E G H	64240	210250	Sitosterolemia	210250	C0342907	OMIM	1	47	13886	605459
HP:0002027	HP:0002027	Abdominal pain	0	ABCG8 CL E G H	64241	210250	Sitosterolemia	210250	C0342907	OMIM	1	51	13887	605460
HP:0002027	HP:0002027	Abdominal pain	0	ACTG2 CL E G H	72	155310	Visceral myopathy	155310	C1835084	OMIM	1	20	145	102545
HP:0002027	HP:0002027	Abdominal pain	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	55	1839	607575
HP:0002027	HP:0002027	Abdominal pain	0	ALAD CL E G H	210	100924				ORPHA	1	12	395	125270
HP:0002027	HP:0002027	Abdominal pain	0	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	417	612724
HP:0002027	HP:0002027	Abdominal pain	0	APC CL E G H	324	873	Bethlem myopathy		C1834674	ORPHA	1	1951	583	611731
HP:0002027	HP:0002027	Abdominal pain	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	961	605681
HP:0002027	HP:0002027	Abdominal pain	0	BMPR1A CL E G H	657	174900	Juvenile polyposis syndrome	174900	C0345893	OMIM	1	141	1076	601299
HP:0002027	HP:0002027	Abdominal pain	0	BRCA1 CL E G H	672	168829				ORPHA	1	2824	1100	113705
HP:0002027	HP:0002027	Abdominal pain	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	1	2824	1100	113705
HP:0002027	HP:0002027	Abdominal pain	0	BRCA2 CL E G H	675	654	Ampola syndrome			ORPHA	1	3025	1101	600185
HP:0002027	HP:0002027	Abdominal pain	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	1	3025	1101	600185
HP:0002027	HP:0002027	Abdominal pain	0	C4A CL E G H	720	117				ORPHA	1	9	1323	120810
HP:0002027	HP:0002027	Abdominal pain	0	CASR CL E G H	846	676				ORPHA	1	410	1514	601199
HP:0002027	HP:0002027	Abdominal pain	0	CASR CL E G H	846	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	410	1514	601199
HP:0002027	HP:0002027	Abdominal pain	0	CCR1 CL E G H	1230	117				ORPHA	1	1	1602	601159
HP:0002027	HP:0002027	Abdominal pain	0	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	25	2665	125240
HP:0002027	HP:0002027	Abdominal pain	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	1	243	1787	600160
HP:0002027	HP:0002027	Abdominal pain	0	CEL CL E G H	1056	609812	Maturity-onset diabetes of the young, type 8	609812	C1853297	OMIM	1	14	1848	114840
HP:0002027	HP:0002027	Abdominal pain	0	CFTR CL E G H	1080	676				ORPHA	1	1828	1884	602421
HP:0002027	HP:0002027	Abdominal pain	0	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	65	2037	603959
HP:0002027	HP:0002027	Abdominal pain	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	2586	603432
HP:0002027	HP:0002027	Abdominal pain	0	CPA1 CL E G H	1357	676				ORPHA	1	48	2296	114850
HP:0002027	HP:0002027	Abdominal pain	0	CPOX CL E G H	1371	79273				ORPHA	1	73	2321	612732
HP:0002027	HP:0002027	Abdominal pain	0	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	73	2321	612732
HP:0002027	HP:0002027	Abdominal pain	0	CTLA4 CL E G H	1493	900				ORPHA	1	72	2505	123890
HP:0002027	HP:0002027	Abdominal pain	0	CTNNB1 CL E G H	1499	33402				ORPHA	1	54	2514	116806
HP:0002027	HP:0002027	Abdominal pain	0	CTNNB1 CL E G H	1499	873	Bethlem myopathy		C1834674	ORPHA	1	54	2514	116806
HP:0002027	HP:0002027	Abdominal pain	0	CTRC CL E G H	11330	676				ORPHA	1	48	2523	601405
HP:0002027	HP:0002027	Abdominal pain	0	DIS3L2 CL E G H	129563	654	Ampola syndrome			ORPHA	1	14	28648	614184
HP:0002027	HP:0002027	Abdominal pain	0	DNASE1L3 CL E G H	1776	36412				ORPHA	1	10	2959	602244
HP:0002027	HP:0002027	Abdominal pain	0	ECE1 CL E G H	1889	388	Hirschsprung disease		C0019569	ORPHA	1	7	3146	600423
HP:0002027	HP:0002027	Abdominal pain	0	EDN3 CL E G H	1908	897				ORPHA	1	21	3178	131242
HP:0002027	HP:0002027	Abdominal pain	0	EDN3 CL E G H	1908	388	Hirschsprung disease		C0019569	ORPHA	1	21	3178	131242
HP:0002027	HP:0002027	Abdominal pain	0	EDNRB CL E G H	1910	897				ORPHA	1	70	3180	131244
HP:0002027	HP:0002027	Abdominal pain	0	EDNRB CL E G H	1910	388	Hirschsprung disease		C0019569	ORPHA	1	70	3180	131244
HP:0002027	HP:0002027	Abdominal pain	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	3327	130160
HP:0002027	HP:0002027	Abdominal pain	0	EPCAM CL E G H	4072	144				ORPHA	1	81	11529	185535
HP:0002027	HP:0002027	Abdominal pain	0	EPOR CL E G H	2057	90042				ORPHA	1	32	3416	133171
HP:0002027	HP:0002027	Abdominal pain	0	ERAP1 CL E G H	51752	117				ORPHA	1	11	18173	606832
HP:0002027	HP:0002027	Abdominal pain	0	EWSR1 CL E G H	2130	83469				ORPHA	1	8	3508	133450
HP:0002027	HP:0002027	Abdominal pain	0	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	169	3542	612309
HP:0002027	HP:0002027	Abdominal pain	0	FAN1 CL E G H	22909	144				ORPHA	1	21	29170	613534
HP:0002027	HP:0002027	Abdominal pain	0	FAS CL E G H	355	117				ORPHA	1	142	11920	134637
HP:0002027	HP:0002027	Abdominal pain	0	FSHR CL E G H	2492	64739				ORPHA	1	41	3969	136435
HP:0002027	HP:0002027	Abdominal pain	0	FSHR CL E G H	2492	608115	Ovarian hyperstimulation syndrome	608115	C0085083	OMIM	1	41	3969	136435
HP:0002027	HP:0002027	Abdominal pain	0	GBA CL E G H	2629	77259				ORPHA	1	494	4177	606463
HP:0002027	HP:0002027	Abdominal pain	0	GCGR CL E G H	2642	438274				ORPHA	1	12	4192	138033
HP:0002027	HP:0002027	Abdominal pain	0	GDNF CL E G H	2668	388	Hirschsprung disease		C0019569	ORPHA	1	11	4232	600837
HP:0002027	HP:0002027	Abdominal pain	0	GHSR CL E G H	2693	314811				ORPHA	1	15	4267	601898
HP:0002027	HP:0002027	Abdominal pain	0	GLA CL E G H	2717	301500	Fabry disease	301500	C0002986	OMIM	1	966	4296	300644
HP:0002027	HP:0002027	Abdominal pain	0	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	1	966	4296	300644
HP:0002027	HP:0002027	Abdominal pain	0	GNA11 CL E G H	2767	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	11	4379	139313
HP:0002027	HP:0002027	Abdominal pain	0	GPC3 CL E G H	2719	654	Ampola syndrome			ORPHA	1	98	4451	300037
HP:0002027	HP:0002027	Abdominal pain	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	4659	601679
HP:0002027	HP:0002027	Abdominal pain	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	4661	604318
HP:0002027	HP:0002027	Abdominal pain	0	H19 CL E G H	283120	654	Ampola syndrome			ORPHA	1	38	4713	103280
HP:0002027	HP:0002027	Abdominal pain	0	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	871	4827	141900
HP:0002027	HP:0002027	Abdominal pain	0	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	61	4886	613609
HP:0002027	HP:0002027	Abdominal pain	0	HLA-B CL E G H	3106	117				ORPHA	1	53	4932	142830
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DPA1 CL E G H	3113	900				ORPHA	1	1	4938	142880
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DPB1 CL E G H	3115	900				ORPHA	1	9	4940	142858
HP:0002027	HP:0002027	Abdominal pain	0	HMBS CL E G H	3145	79276				ORPHA	1	423	4982	609806
HP:0002027	HP:0002027	Abdominal pain	0	HMBS CL E G H	3145	176000	Acute intermittent porphyria	176000	C0162565	OMIM	1	423	4982	609806
HP:0002027	HP:0002027	Abdominal pain	0	HPS1 CL E G H	3257	203300	Hermansky-Pudlak syndrome 1	203300	C2931875	OMIM	1	55	5163	604982
HP:0002027	HP:0002027	Abdominal pain	0	IL10 CL E G H	3586	117				ORPHA	1	21	5962	124092
HP:0002027	HP:0002027	Abdominal pain	0	IL12A CL E G H	3592	117				ORPHA	1	2	5969	161560
HP:0002027	HP:0002027	Abdominal pain	0	IL12A-AS1 CL E G H	101928376	117				ORPHA	1		49094	0
HP:0002027	HP:0002027	Abdominal pain	0	IL23R CL E G H	149233	117				ORPHA	1	9	19100	607562
HP:0002027	HP:0002027	Abdominal pain	0	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	1	26	6192	147796
HP:0002027	HP:0002027	Abdominal pain	0	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	26	6192	147796
HP:0002027	HP:0002027	Abdominal pain	0	KLRC4 CL E G H	8302	117				ORPHA	1		6377	602893
HP:0002027	HP:0002027	Abdominal pain	0	KRAS CL E G H	3845	144				ORPHA	1	45	6407	190070
HP:0002027	HP:0002027	Abdominal pain	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	1	45	6407	190070
HP:0002027	HP:0002027	Abdominal pain	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	6613	601329
HP:0002027	HP:0002027	Abdominal pain	0	MCM6 CL E G H	4175	223100	Nonpersistence of intestinal lactase	223100	C0268181	OMIM	1	2	6949	601806
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	117				ORPHA	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	342				ORPHA	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	249100	Familial Mediterranean fever	249100	C0031069	OMIM	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	134610	Familial mediterranean fever, autosomal dominant	134610	C1851347	OMIM	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	0	MET CL E G H	4233	33402				ORPHA	1	39	7029	164860
HP:0002027	HP:0002027	Abdominal pain	0	MLH1 CL E G H	4292	144				ORPHA	1	1203	7127	120436
HP:0002027	HP:0002027	Abdominal pain	0	MLH3 CL E G H	27030	144				ORPHA	1	32	7128	604395
HP:0002027	HP:0002027	Abdominal pain	0	MLYCD CL E G H	23417	248360	Deficiency of malonyl-CoA decarboxylase	248360	C0342793	OMIM	1	39	7150	606761
HP:0002027	HP:0002027	Abdominal pain	0	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	1	57	7217	159530
HP:0002027	HP:0002027	Abdominal pain	0	MSH2 CL E G H	4436	144				ORPHA	1	1264	7325	609309
HP:0002027	HP:0002027	Abdominal pain	0	MSH6 CL E G H	2956	144				ORPHA	1	602	7329	600678
HP:0002027	HP:0002027	Abdominal pain	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0002027	HP:0002027	Abdominal pain	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0002027	HP:0002027	Abdominal pain	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0002027	HP:0002027	Abdominal pain	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0002027	HP:0002027	Abdominal pain	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0002027	HP:0002027	Abdominal pain	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0002027	HP:0002027	Abdominal pain	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0002027	HP:0002027	Abdominal pain	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0002027	HP:0002027	Abdominal pain	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0002027	HP:0002027	Abdominal pain	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0002027	HP:0002027	Abdominal pain	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0002027	HP:0002027	Abdominal pain	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0002027	HP:0002027	Abdominal pain	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0002027	HP:0002027	Abdominal pain	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0002027	HP:0002027	Abdominal pain	0	MVK CL E G H	4598	343				ORPHA	1	183	7530	251170
HP:0002027	HP:0002027	Abdominal pain	0	MVK CL E G H	4598	260920	Hyperimmunoglobulin D with periodic fever	260920	C0398691	OMIM	1	183	7530	251170
HP:0002027	HP:0002027	Abdominal pain	0	NLRP12 CL E G H	91662	611762	Familial cold autoinflammatory syndrome 2	611762	C2673198	OMIM	1	12	22938	609648
HP:0002027	HP:0002027	Abdominal pain	0	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	1	142	16400	606416
HP:0002027	HP:0002027	Abdominal pain	0	NME1 CL E G H	4830	256700	Neuroblastoma	256700	C0027819	OMIM	1	1	7849	156490
HP:0002027	HP:0002027	Abdominal pain	0	NRTN CL E G H	4902	388	Hirschsprung disease		C0019569	ORPHA	1	3	8007	602018
HP:0002027	HP:0002027	Abdominal pain	0	OPLAH CL E G H	26873	260005	5-Oxoprolinase deficiency	260005	C0268525	OMIM	1	28	8149	614243
HP:0002027	HP:0002027	Abdominal pain	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	1	417	26144	610355
HP:0002027	HP:0002027	Abdominal pain	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	1	4	17068	608092
HP:0002027	HP:0002027	Abdominal pain	0	PIGT CL E G H	51604	615399	Paroxysmal nocturnal hemoglobinuria 2	615399	C3809369	OMIM	1	12	14938	610272
HP:0002027	HP:0002027	Abdominal pain	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	2	28213	610662
HP:0002027	HP:0002027	Abdominal pain	0	PIK3CA CL E G H	5290	144				ORPHA	1	57	8975	171834
HP:0002027	HP:0002027	Abdominal pain	0	PMS1 CL E G H	5378	144				ORPHA	1	36	9121	600258
HP:0002027	HP:0002027	Abdominal pain	0	PMS2 CL E G H	5395	144				ORPHA	1	363	9122	600259
HP:0002027	HP:0002027	Abdominal pain	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	300	9179	174763
HP:0002027	HP:0002027	Abdominal pain	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	300	9179	174763
HP:0002027	HP:0002027	Abdominal pain	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	9179	174763
HP:0002027	HP:0002027	Abdominal pain	0	POU6F2 CL E G H	11281	654	Ampola syndrome			ORPHA	1	4	21694	609062
HP:0002027	HP:0002027	Abdominal pain	0	PPOX CL E G H	5498	176200	Variegate porphyria	176200	C0162532	OMIM	1	185	9280	600923
HP:0002027	HP:0002027	Abdominal pain	0	PRSS1 CL E G H	5644	676				ORPHA	1	67	9475	276000
HP:0002027	HP:0002027	Abdominal pain	0	PRSS1 CL E G H	5644	167800	Hereditary pancreatitis	167800	C0238339	OMIM	1	67	9475	276000
HP:0002027	HP:0002027	Abdominal pain	0	PRSS2 CL E G H	5645	676				ORPHA	1	2	9483	601564
HP:0002027	HP:0002027	Abdominal pain	0	PRTN3 CL E G H	5657	900				ORPHA	1		9495	177020
HP:0002027	HP:0002027	Abdominal pain	0	PTPN22 CL E G H	26191	900				ORPHA	1	14	9652	600716
HP:0002027	HP:0002027	Abdominal pain	0	REST CL E G H	5978	654	Ampola syndrome			ORPHA	1	17	9966	600571
HP:0002027	HP:0002027	Abdominal pain	0	RET CL E G H	5979	388	Hirschsprung disease		C0019569	ORPHA	1	432	9967	164761
HP:0002027	HP:0002027	Abdominal pain	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	4	9970	600404
HP:0002027	HP:0002027	Abdominal pain	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	17296	604712
HP:0002027	HP:0002027	Abdominal pain	0	SAA1 CL E G H	6288	85445				ORPHA	1	3	10513	104750
HP:0002027	HP:0002027	Abdominal pain	0	SCARB2 CL E G H	950	77259				ORPHA	1	27	1665	602257
HP:0002027	HP:0002027	Abdominal pain	0	SDHB CL E G H	6390	97286				ORPHA	1	279	10681	185470
HP:0002027	HP:0002027	Abdominal pain	0	SDHC CL E G H	6391	97286				ORPHA	1	62	10682	602413
HP:0002027	HP:0002027	Abdominal pain	0	SDHD CL E G H	6392	97286				ORPHA	1	174	10683	602690
HP:0002027	HP:0002027	Abdominal pain	0	SEMA3C CL E G H	10512	388	Hirschsprung disease		C0019569	ORPHA	1	4	10725	602645
HP:0002027	HP:0002027	Abdominal pain	0	SEMA3D CL E G H	223117	388	Hirschsprung disease		C0019569	ORPHA	1	14	10726	609907
HP:0002027	HP:0002027	Abdominal pain	0	SERPING1 CL E G H	710	100050				ORPHA	1	567	1228	606860
HP:0002027	HP:0002027	Abdominal pain	0	SERPING1 CL E G H	710	106100	Hereditary angioedema type 1	106100	C2717906	OMIM	1	567	1228	606860
HP:0002027	HP:0002027	Abdominal pain	0	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	1	4	20661	611037
HP:0002027	HP:0002027	Abdominal pain	0	SLC40A1 CL E G H	30061	139491				ORPHA	1	67	10909	604653
HP:0002027	HP:0002027	Abdominal pain	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	1	147	6770	600993
HP:0002027	HP:0002027	Abdominal pain	0	SMAD4 CL E G H	4089	174900	Juvenile polyposis syndrome	174900	C0345893	OMIM	1	147	6770	600993
HP:0002027	HP:0002027	Abdominal pain	0	SOX10 CL E G H	6663	897				ORPHA	1	151	11190	602229
HP:0002027	HP:0002027	Abdominal pain	0	SOX10 CL E G H	6663	163746				ORPHA	1	151	11190	602229
HP:0002027	HP:0002027	Abdominal pain	0	SPINK1 CL E G H	6690	676				ORPHA	1	54	11244	167790
HP:0002027	HP:0002027	Abdominal pain	0	SPINK1 CL E G H	6690	167800	Hereditary pancreatitis	167800	C0238339	OMIM	1	54	11244	167790
HP:0002027	HP:0002027	Abdominal pain	0	SPINK1 CL E G H	6690	608189	Tropical calcific pancreatitis	608189	C1842402	OMIM	1	54	11244	167790
HP:0002027	HP:0002027	Abdominal pain	0	STAT4 CL E G H	6775	117				ORPHA	1	6	11365	600558
HP:0002027	HP:0002027	Abdominal pain	0	STK11 CL E G H	6794	175200	Peutz-Jeghers syndrome	175200	C0031269	OMIM	1	466	11389	602216
HP:0002027	HP:0002027	Abdominal pain	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1		11586	605842
HP:0002027	HP:0002027	Abdominal pain	0	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	1	12	25941	612839
HP:0002027	HP:0002027	Abdominal pain	0	TGFBR2 CL E G H	7048	144				ORPHA	1	148	11773	190182
HP:0002027	HP:0002027	Abdominal pain	0	TLR4 CL E G H	7099	117				ORPHA	1	18	11850	603030
HP:0002027	HP:0002027	Abdominal pain	0	TNFRSF1A CL E G H	7132	32960				ORPHA	1	109	11916	191190
HP:0002027	HP:0002027	Abdominal pain	0	TNFRSF1A CL E G H	7132	142680	TNF receptor-associated periodic fever syndrome (TRAPS)	142680	C1275126	OMIM	1	109	11916	191190
HP:0002027	HP:0002027	Abdominal pain	0	TP53 CL E G H	7157	1501				ORPHA	1	541	11998	191170
HP:0002027	HP:0002027	Abdominal pain	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	1	541	11998	191170
HP:0002027	HP:0002027	Abdominal pain	0	TREH CL E G H	11181	612119	alpha, alpha-Trehalase deficiency	612119	C0268187	OMIM	1	2	12266	275360
HP:0002027	HP:0002027	Abdominal pain	0	TRIM28 CL E G H	10155	654	Ampola syndrome			ORPHA	1	3	16384	601742
HP:0002027	HP:0002027	Abdominal pain	0	TRIP13 CL E G H	9319	654	Ampola syndrome			ORPHA	1	2	12307	604507
HP:0002027	HP:0002027	Abdominal pain	0	TSC1 CL E G H	7248	538				ORPHA	1	404	12362	605284
HP:0002027	HP:0002027	Abdominal pain	0	TSC2 CL E G H	7249	538				ORPHA	1	1269	12363	191092
HP:0002027	HP:0002027	Abdominal pain	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	95	3148	131222
HP:0002027	HP:0002027	Abdominal pain	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	3148	131222
HP:0002027	HP:0002027	Abdominal pain	0	UBAC2 CL E G H	337867	117				ORPHA	1	1	20486	0
HP:0002027	HP:0002027	Abdominal pain	0	WT1 CL E G H	7490	83469				ORPHA	1	184	12796	607102
HP:0002027	HP:0002027	Abdominal pain	0	WT1 CL E G H	7490	654	Ampola syndrome			ORPHA	1	184	12796	607102
HP:0002027	HP:0002027	Abdominal pain	1	ABCA1 CL E G H	19	31150				ORPHA	1	240	29	600046
HP:0002027	HP:0002027	Abdominal pain	1	ABCG5 CL E G H	64240	210250	Sitosterolemia	210250	C0342907	OMIM	1	47	13886	605459
HP:0002027	HP:0002027	Abdominal pain	1	ABCG8 CL E G H	64241	210250	Sitosterolemia	210250	C0342907	OMIM	1	51	13887	605460
HP:0002027	HP:0002027	Abdominal pain	1	ACTG2 CL E G H	72	155310	Visceral myopathy	155310	C1835084	OMIM	1	20	145	102545
HP:0002027	HP:0002027	Abdominal pain	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	1	55	1839	607575
HP:0002027	HP:0002027	Abdominal pain	1	ALAD CL E G H	210	100924				ORPHA	1	12	395	125270
HP:0002027	HP:0002027	Abdominal pain	1	ALDOB CL E G H	229	229600	Hereditary fructosuria	229600	C0016751	OMIM	1	67	417	612724
HP:0002027	HP:0002027	Abdominal pain	1	APC CL E G H	324	873	Bethlem myopathy		C1834674	ORPHA	1	1951	583	611731
HP:0002027	HP:0002027	Abdominal pain	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	961	605681
HP:0002027	HP:0002027	Abdominal pain	1	BMPR1A CL E G H	657	174900	Juvenile polyposis syndrome	174900	C0345893	OMIM	1	141	1076	601299
HP:0002027	HP:0002027	Abdominal pain	1	BRCA1 CL E G H	672	168829				ORPHA	1	2824	1100	113705
HP:0002027	HP:0002027	Abdominal pain	1	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	1	2824	1100	113705
HP:0002027	HP:0002027	Abdominal pain	1	BRCA2 CL E G H	675	654	Ampola syndrome			ORPHA	1	3025	1101	600185
HP:0002027	HP:0002027	Abdominal pain	1	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	1	3025	1101	600185
HP:0002027	HP:0002027	Abdominal pain	1	C4A CL E G H	720	117				ORPHA	1	9	1323	120810
HP:0002027	HP:0002027	Abdominal pain	1	CASR CL E G H	846	676				ORPHA	1	410	1514	601199
HP:0002027	HP:0002027	Abdominal pain	1	CASR CL E G H	846	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	410	1514	601199
HP:0002027	HP:0002027	Abdominal pain	1	CCR1 CL E G H	1230	117				ORPHA	1	1	1602	601159
HP:0002027	HP:0002027	Abdominal pain	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	25	2665	125240
HP:0002027	HP:0002027	Abdominal pain	1	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	1	243	1787	600160
HP:0002027	HP:0002027	Abdominal pain	1	CEL CL E G H	1056	609812	Maturity-onset diabetes of the young, type 8	609812	C1853297	OMIM	1	14	1848	114840
HP:0002027	HP:0002027	Abdominal pain	1	CFTR CL E G H	1080	676				ORPHA	1	1828	1884	602421
HP:0002027	HP:0002027	Abdominal pain	1	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	65	2037	603959
HP:0002027	HP:0002027	Abdominal pain	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	2586	603432
HP:0002027	HP:0002027	Abdominal pain	1	CPA1 CL E G H	1357	676				ORPHA	1	48	2296	114850
HP:0002027	HP:0002027	Abdominal pain	1	CPOX CL E G H	1371	79273				ORPHA	1	73	2321	612732
HP:0002027	HP:0002027	Abdominal pain	1	CPOX CL E G H	1371	121300	Hereditary coproporphyria	121300	C0162531	OMIM	1	73	2321	612732
HP:0002027	HP:0002027	Abdominal pain	1	CTLA4 CL E G H	1493	900				ORPHA	1	72	2505	123890
HP:0002027	HP:0002027	Abdominal pain	1	CTNNB1 CL E G H	1499	33402				ORPHA	1	54	2514	116806
HP:0002027	HP:0002027	Abdominal pain	1	CTNNB1 CL E G H	1499	873	Bethlem myopathy		C1834674	ORPHA	1	54	2514	116806
HP:0002027	HP:0002027	Abdominal pain	1	CTRC CL E G H	11330	676				ORPHA	1	48	2523	601405
HP:0002027	HP:0002027	Abdominal pain	1	DIS3L2 CL E G H	129563	654	Ampola syndrome			ORPHA	1	14	28648	614184
HP:0002027	HP:0002027	Abdominal pain	1	DNASE1L3 CL E G H	1776	36412				ORPHA	1	10	2959	602244
HP:0002027	HP:0002027	Abdominal pain	1	ECE1 CL E G H	1889	388	Hirschsprung disease		C0019569	ORPHA	1	7	3146	600423
HP:0002027	HP:0002027	Abdominal pain	1	EDN3 CL E G H	1908	897				ORPHA	1	21	3178	131242
HP:0002027	HP:0002027	Abdominal pain	1	EDN3 CL E G H	1908	388	Hirschsprung disease		C0019569	ORPHA	1	21	3178	131242
HP:0002027	HP:0002027	Abdominal pain	1	EDNRB CL E G H	1910	897				ORPHA	1	70	3180	131244
HP:0002027	HP:0002027	Abdominal pain	1	EDNRB CL E G H	1910	388	Hirschsprung disease		C0019569	ORPHA	1	70	3180	131244
HP:0002027	HP:0002027	Abdominal pain	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	3327	130160
HP:0002027	HP:0002027	Abdominal pain	1	EPCAM CL E G H	4072	144				ORPHA	1	81	11529	185535
HP:0002027	HP:0002027	Abdominal pain	1	EPOR CL E G H	2057	90042				ORPHA	1	32	3416	133171
HP:0002027	HP:0002027	Abdominal pain	1	ERAP1 CL E G H	51752	117				ORPHA	1	11	18173	606832
HP:0002027	HP:0002027	Abdominal pain	1	EWSR1 CL E G H	2130	83469				ORPHA	1	8	3508	133450
HP:0002027	HP:0002027	Abdominal pain	1	F5 CL E G H	2153	131	Myeloid sarcoma			ORPHA	1	169	3542	612309
HP:0002027	HP:0002027	Abdominal pain	1	FAN1 CL E G H	22909	144				ORPHA	1	21	29170	613534
HP:0002027	HP:0002027	Abdominal pain	1	FAS CL E G H	355	117				ORPHA	1	142	11920	134637
HP:0002027	HP:0002027	Abdominal pain	1	FSHR CL E G H	2492	64739				ORPHA	1	41	3969	136435
HP:0002027	HP:0002027	Abdominal pain	1	FSHR CL E G H	2492	608115	Ovarian hyperstimulation syndrome	608115	C0085083	OMIM	1	41	3969	136435
HP:0002027	HP:0002027	Abdominal pain	1	GBA CL E G H	2629	77259				ORPHA	1	494	4177	606463
HP:0002027	HP:0002027	Abdominal pain	1	GCGR CL E G H	2642	438274				ORPHA	1	12	4192	138033
HP:0002027	HP:0002027	Abdominal pain	1	GDNF CL E G H	2668	388	Hirschsprung disease		C0019569	ORPHA	1	11	4232	600837
HP:0002027	HP:0002027	Abdominal pain	1	GHSR CL E G H	2693	314811				ORPHA	1	15	4267	601898
HP:0002027	HP:0002027	Abdominal pain	1	GLA CL E G H	2717	301500	Fabry disease	301500	C0002986	OMIM	1	966	4296	300644
HP:0002027	HP:0002027	Abdominal pain	1	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	1	966	4296	300644
HP:0002027	HP:0002027	Abdominal pain	1	GNA11 CL E G H	2767	428	Autosomal dominant hypocalcemia		CN228164	ORPHA	1	11	4379	139313
HP:0002027	HP:0002027	Abdominal pain	1	GPC3 CL E G H	2719	654	Ampola syndrome			ORPHA	1	98	4451	300037
HP:0002027	HP:0002027	Abdominal pain	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	4659	601679
HP:0002027	HP:0002027	Abdominal pain	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	4661	604318
HP:0002027	HP:0002027	Abdominal pain	1	H19 CL E G H	283120	654	Ampola syndrome			ORPHA	1	38	4713	103280
HP:0002027	HP:0002027	Abdominal pain	1	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	871	4827	141900
HP:0002027	HP:0002027	Abdominal pain	1	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	61	4886	613609
HP:0002027	HP:0002027	Abdominal pain	1	HLA-B CL E G H	3106	117				ORPHA	1	53	4932	142830
HP:0002027	HP:0002027	Abdominal pain	1	HLA-DPA1 CL E G H	3113	900				ORPHA	1	1	4938	142880
HP:0002027	HP:0002027	Abdominal pain	1	HLA-DPB1 CL E G H	3115	900				ORPHA	1	9	4940	142858
HP:0002027	HP:0002027	Abdominal pain	1	HMBS CL E G H	3145	79276				ORPHA	1	423	4982	609806
HP:0002027	HP:0002027	Abdominal pain	1	HMBS CL E G H	3145	176000	Acute intermittent porphyria	176000	C0162565	OMIM	1	423	4982	609806
HP:0002027	HP:0002027	Abdominal pain	1	HPS1 CL E G H	3257	203300	Hermansky-Pudlak syndrome 1	203300	C2931875	OMIM	1	55	5163	604982
HP:0002027	HP:0002027	Abdominal pain	1	IL10 CL E G H	3586	117				ORPHA	1	21	5962	124092
HP:0002027	HP:0002027	Abdominal pain	1	IL12A CL E G H	3592	117				ORPHA	1	2	5969	161560
HP:0002027	HP:0002027	Abdominal pain	1	IL12A-AS1 CL E G H	101928376	117				ORPHA	1		49094	0
HP:0002027	HP:0002027	Abdominal pain	1	IL23R CL E G H	149233	117				ORPHA	1	9	19100	607562
HP:0002027	HP:0002027	Abdominal pain	1	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	1	26	6192	147796
HP:0002027	HP:0002027	Abdominal pain	1	JAK2 CL E G H	3717	131	Myeloid sarcoma			ORPHA	1	26	6192	147796
HP:0002027	HP:0002027	Abdominal pain	1	KLRC4 CL E G H	8302	117				ORPHA	1		6377	602893
HP:0002027	HP:0002027	Abdominal pain	1	KRAS CL E G H	3845	144				ORPHA	1	45	6407	190070
HP:0002027	HP:0002027	Abdominal pain	1	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	1	45	6407	190070
HP:0002027	HP:0002027	Abdominal pain	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	6613	601329
HP:0002027	HP:0002027	Abdominal pain	1	MCM6 CL E G H	4175	223100	Nonpersistence of intestinal lactase	223100	C0268181	OMIM	1	2	6949	601806
HP:0002027	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	342				ORPHA	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	117				ORPHA	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	249100	Familial Mediterranean fever	249100	C0031069	OMIM	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	1	MEFV CL E G H	4210	134610	Familial mediterranean fever, autosomal dominant	134610	C1851347	OMIM	1	189	6998	608107
HP:0002027	HP:0002027	Abdominal pain	1	MET CL E G H	4233	33402				ORPHA	1	39	7029	164860
HP:0002027	HP:0002027	Abdominal pain	1	MLH1 CL E G H	4292	144				ORPHA	1	1203	7127	120436
HP:0002027	HP:0002027	Abdominal pain	1	MLH3 CL E G H	27030	144				ORPHA	1	32	7128	604395
HP:0002027	HP:0002027	Abdominal pain	1	MLYCD CL E G H	23417	248360	Deficiency of malonyl-CoA decarboxylase	248360	C0342793	OMIM	1	39	7150	606761
HP:0002027	HP:0002027	Abdominal pain	1	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	1	57	7217	159530
HP:0002027	HP:0002027	Abdominal pain	1	MSH2 CL E G H	4436	144				ORPHA	1	1264	7325	609309
HP:0002027	HP:0002027	Abdominal pain	1	MSH6 CL E G H	2956	144				ORPHA	1	602	7329	600678
HP:0002027	HP:0002027	Abdominal pain	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0002027	HP:0002027	Abdominal pain	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0002027	HP:0002027	Abdominal pain	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0002027	HP:0002027	Abdominal pain	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0002027	HP:0002027	Abdominal pain	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0002027	HP:0002027	Abdominal pain	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0002027	HP:0002027	Abdominal pain	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0002027	HP:0002027	Abdominal pain	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0002027	HP:0002027	Abdominal pain	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0002027	HP:0002027	Abdominal pain	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0002027	HP:0002027	Abdominal pain	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0002027	HP:0002027	Abdominal pain	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0002027	HP:0002027	Abdominal pain	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0002027	HP:0002027	Abdominal pain	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0002027	HP:0002027	Abdominal pain	1	MVK CL E G H	4598	343				ORPHA	1	183	7530	251170
HP:0002027	HP:0002027	Abdominal pain	1	MVK CL E G H	4598	260920	Hyperimmunoglobulin D with periodic fever	260920	C0398691	OMIM	1	183	7530	251170
HP:0002027	HP:0002027	Abdominal pain	1	NLRP12 CL E G H	91662	611762	Familial cold autoinflammatory syndrome 2	611762	C2673198	OMIM	1	12	22938	609648
HP:0002027	HP:0002027	Abdominal pain	1	NLRP3 CL E G H	114548	575	Aicardi Goutieres syndrome		C0393591	ORPHA	1	142	16400	606416
HP:0002027	HP:0002027	Abdominal pain	1	NME1 CL E G H	4830	256700	Neuroblastoma	256700	C0027819	OMIM	1	1	7849	156490
HP:0002027	HP:0002027	Abdominal pain	1	NRTN CL E G H	4902	388	Hirschsprung disease		C0019569	ORPHA	1	3	8007	602018
HP:0002027	HP:0002027	Abdominal pain	1	OPLAH CL E G H	26873	260005	5-Oxoprolinase deficiency	260005	C0268525	OMIM	1	28	8149	614243
HP:0002027	HP:0002027	Abdominal pain	1	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	1	417	26144	610355
HP:0002027	HP:0002027	Abdominal pain	1	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	1	4	17068	608092
HP:0002027	HP:0002027	Abdominal pain	1	PIGT CL E G H	51604	615399	Paroxysmal nocturnal hemoglobinuria 2	615399	C3809369	OMIM	1	12	14938	610272
HP:0002027	HP:0002027	Abdominal pain	1	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	2	28213	610662
HP:0002027	HP:0002027	Abdominal pain	1	PIK3CA CL E G H	5290	144				ORPHA	1	57	8975	171834
HP:0002027	HP:0002027	Abdominal pain	1	PMS1 CL E G H	5378	144				ORPHA	1	36	9121	600258
HP:0002027	HP:0002027	Abdominal pain	1	PMS2 CL E G H	5395	144				ORPHA	1	363	9122	600259
HP:0002027	HP:0002027	Abdominal pain	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	300	9179	174763
HP:0002027	HP:0002027	Abdominal pain	1	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	300	9179	174763
HP:0002027	HP:0002027	Abdominal pain	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	9179	174763
HP:0002027	HP:0002027	Abdominal pain	1	POU6F2 CL E G H	11281	654	Ampola syndrome			ORPHA	1	4	21694	609062
HP:0002027	HP:0002027	Abdominal pain	1	PPOX CL E G H	5498	176200	Variegate porphyria	176200	C0162532	OMIM	1	185	9280	600923
HP:0002027	HP:0002027	Abdominal pain	1	PRSS1 CL E G H	5644	676				ORPHA	1	67	9475	276000
HP:0002027	HP:0002027	Abdominal pain	1	PRSS1 CL E G H	5644	167800	Hereditary pancreatitis	167800	C0238339	OMIM	1	67	9475	276000
HP:0002027	HP:0002027	Abdominal pain	1	PRSS2 CL E G H	5645	676				ORPHA	1	2	9483	601564
HP:0002027	HP:0002027	Abdominal pain	1	PRTN3 CL E G H	5657	900				ORPHA	1		9495	177020
HP:0002027	HP:0002027	Abdominal pain	1	PTPN22 CL E G H	26191	900				ORPHA	1	14	9652	600716
HP:0002027	HP:0002027	Abdominal pain	1	REST CL E G H	5978	654	Ampola syndrome			ORPHA	1	17	9966	600571
HP:0002027	HP:0002027	Abdominal pain	1	RET CL E G H	5979	388	Hirschsprung disease		C0019569	ORPHA	1	432	9967	164761
HP:0002027	HP:0002027	Abdominal pain	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	4	9970	600404
HP:0002027	HP:0002027	Abdominal pain	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	17296	604712
HP:0002027	HP:0002027	Abdominal pain	1	SAA1 CL E G H	6288	85445				ORPHA	1	3	10513	104750
HP:0002027	HP:0002027	Abdominal pain	1	SCARB2 CL E G H	950	77259				ORPHA	1	27	1665	602257
HP:0002027	HP:0002027	Abdominal pain	1	SDHB CL E G H	6390	97286				ORPHA	1	279	10681	185470
HP:0002027	HP:0002027	Abdominal pain	1	SDHC CL E G H	6391	97286				ORPHA	1	62	10682	602413
HP:0002027	HP:0002027	Abdominal pain	1	SDHD CL E G H	6392	97286				ORPHA	1	174	10683	602690
HP:0002027	HP:0002027	Abdominal pain	1	SEMA3C CL E G H	10512	388	Hirschsprung disease		C0019569	ORPHA	1	4	10725	602645
HP:0002027	HP:0002027	Abdominal pain	1	SEMA3D CL E G H	223117	388	Hirschsprung disease		C0019569	ORPHA	1	14	10726	609907
HP:0002027	HP:0002027	Abdominal pain	1	SERPING1 CL E G H	710	100050				ORPHA	1	567	1228	606860
HP:0002027	HP:0002027	Abdominal pain	1	SERPING1 CL E G H	710	106100	Hereditary angioedema type 1	106100	C2717906	OMIM	1	567	1228	606860
HP:0002027	HP:0002027	Abdominal pain	1	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	1	4	20661	611037
HP:0002027	HP:0002027	Abdominal pain	1	SLC40A1 CL E G H	30061	139491				ORPHA	1	67	10909	604653
HP:0002027	HP:0002027	Abdominal pain	1	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	1	147	6770	600993
HP:0002027	HP:0002027	Abdominal pain	1	SMAD4 CL E G H	4089	174900	Juvenile polyposis syndrome	174900	C0345893	OMIM	1	147	6770	600993
HP:0002027	HP:0002027	Abdominal pain	1	SOX10 CL E G H	6663	897				ORPHA	1	151	11190	602229
HP:0002027	HP:0002027	Abdominal pain	1	SOX10 CL E G H	6663	163746				ORPHA	1	151	11190	602229
HP:0002027	HP:0002027	Abdominal pain	1	SPINK1 CL E G H	6690	676				ORPHA	1	54	11244	167790
HP:0002027	HP:0002027	Abdominal pain	1	SPINK1 CL E G H	6690	167800	Hereditary pancreatitis	167800	C0238339	OMIM	1	54	11244	167790
HP:0002027	HP:0002027	Abdominal pain	1	SPINK1 CL E G H	6690	608189	Tropical calcific pancreatitis	608189	C1842402	OMIM	1	54	11244	167790
HP:0002027	HP:0002027	Abdominal pain	1	STAT4 CL E G H	6775	117				ORPHA	1	6	11365	600558
HP:0002027	HP:0002027	Abdominal pain	1	STK11 CL E G H	6794	175200	Peutz-Jeghers syndrome	175200	C0031269	OMIM	1	466	11389	602216
HP:0002027	HP:0002027	Abdominal pain	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1		11586	605842
HP:0002027	HP:0002027	Abdominal pain	1	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	1	12	25941	612839
HP:0002027	HP:0002027	Abdominal pain	1	TGFBR2 CL E G H	7048	144				ORPHA	1	148	11773	190182
HP:0002027	HP:0002027	Abdominal pain	1	TLR4 CL E G H	7099	117				ORPHA	1	18	11850	603030
HP:0002027	HP:0002027	Abdominal pain	1	TNFRSF1A CL E G H	7132	32960				ORPHA	1	109	11916	191190
HP:0002027	HP:0002027	Abdominal pain	1	TNFRSF1A CL E G H	7132	142680	TNF receptor-associated periodic fever syndrome (TRAPS)	142680	C1275126	OMIM	1	109	11916	191190
HP:0002027	HP:0002027	Abdominal pain	1	TP53 CL E G H	7157	1501				ORPHA	1	541	11998	191170
HP:0002027	HP:0002027	Abdominal pain	1	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	1	541	11998	191170
HP:0002027	HP:0002027	Abdominal pain	1	TREH CL E G H	11181	612119	alpha, alpha-Trehalase deficiency	612119	C0268187	OMIM	1	2	12266	275360
HP:0002027	HP:0002027	Abdominal pain	1	TRIM28 CL E G H	10155	654	Ampola syndrome			ORPHA	1	3	16384	601742
HP:0002027	HP:0002027	Abdominal pain	1	TRIP13 CL E G H	9319	654	Ampola syndrome			ORPHA	1	2	12307	604507
HP:0002027	HP:0002027	Abdominal pain	1	TSC1 CL E G H	7248	538				ORPHA	1	404	12362	605284
HP:0002027	HP:0002027	Abdominal pain	1	TSC2 CL E G H	7249	538				ORPHA	1	1269	12363	191092
HP:0002027	HP:0002027	Abdominal pain	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	95	3148	131222
HP:0002027	HP:0002027	Abdominal pain	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	3148	131222
HP:0002027	HP:0002027	Abdominal pain	1	UBAC2 CL E G H	337867	117				ORPHA	1	1	20486	0
HP:0002027	HP:0002027	Abdominal pain	1	WT1 CL E G H	7490	83469				ORPHA	1	184	12796	607102
HP:0002027	HP:0002027	Abdominal pain	1	WT1 CL E G H	7490	654	Ampola syndrome			ORPHA	1	184	12796	607102
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002027	HP:0002027	Abdominal pain	0	ABCC2 CL E G H	1244	234				ORPHA	0	67	53	601107
HP:0002027	HP:0002027	Abdominal pain	0	BCL10 CL E G H	8915	52417				ORPHA	0	3	989	603517
HP:0002027	HP:0002027	Abdominal pain	0	BIRC3 CL E G H	330	52417				ORPHA	0	1	591	601721
HP:0002027	HP:0002027	Abdominal pain	0	CDH23 CL E G H	64072	96253				ORPHA	0	361	13733	605516
HP:0002027	HP:0002027	Abdominal pain	0	DDIT3 CL E G H	1649	99967				ORPHA	0		2726	126337
HP:0002027	HP:0002027	Abdominal pain	0	ELANE CL E G H	1991	2686	Hing Torack Dowston syndrome			ORPHA	0	220	3309	130130
HP:0002027	HP:0002027	Abdominal pain	0	FOXP1 CL E G H	27086	52417				ORPHA	0	76	3823	605515
HP:0002027	HP:0002027	Abdominal pain	0	FUS CL E G H	2521	99967				ORPHA	0	113	4010	137070
HP:0002027	HP:0002027	Abdominal pain	0	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	0	2	4492	602646
HP:0002027	HP:0002027	Abdominal pain	0	GUCY2C CL E G H	2984	614616	Diarrhea 6	614616	C3553270	OMIM	0	10	4688	601330
HP:0002027	HP:0002027	Abdominal pain	0	HLA-B CL E G H	3106	36426				ORPHA	0	53	4932	142830
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DRB1 CL E G H	3123	85414				ORPHA	0	26	4948	142857
HP:0002027	HP:0002027	Abdominal pain	0	IGH CL E G H	3492	52417				ORPHA	0		5477	146910
HP:0002027	HP:0002027	Abdominal pain	0	IKZF1 CL E G H	10320	36426				ORPHA	0	38	13176	603023
HP:0002027	HP:0002027	Abdominal pain	0	IL6 CL E G H	3569	85414				ORPHA	0	9	6018	147620
HP:0002027	HP:0002027	Abdominal pain	0	KIT CL E G H	3815	79455				ORPHA	0	121	6342	164920
HP:0002027	HP:0002027	Abdominal pain	0	LACC1 CL E G H	144811	85414				ORPHA	0	3	26789	613409
HP:0002027	HP:0002027	Abdominal pain	0	LRP5 CL E G H	4041	2924	Hypoplastic thumbs hydranencephaly			ORPHA	0	221	6697	603506
HP:0002027	HP:0002027	Abdominal pain	0	MALT1 CL E G H	10892	52417				ORPHA	0	7	6819	604860
HP:0002027	HP:0002027	Abdominal pain	0	MIF CL E G H	4282	85414				ORPHA	0	4	7097	153620
HP:0002027	HP:0002027	Abdominal pain	0	MMUT CL E G H	4594	79312				ORPHA	0		7526	609058
HP:0002027	HP:0002027	Abdominal pain	0	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	0	1	7380	142408
HP:0002027	HP:0002027	Abdominal pain	0	MYC CL E G H	4609	543				ORPHA	0	8	7553	190080
HP:0002027	HP:0002027	Abdominal pain	0	NLRC4 CL E G H	58484	47045				ORPHA	0	9	16412	606831
HP:0002027	HP:0002027	Abdominal pain	0	NLRP3 CL E G H	114548	47045				ORPHA	0	142	16400	606416
HP:0002027	HP:0002027	Abdominal pain	0	PIGA CL E G H	5277	447				ORPHA	0	29	8957	311770
HP:0002027	HP:0002027	Abdominal pain	0	POMT1 CL E G H	10585	86812				ORPHA	0	96	9202	607423
HP:0002027	HP:0002027	Abdominal pain	0	PORCN CL E G H	64840	2092	Ehrlichiosis			ORPHA	0	121	17652	300651
HP:0002027	HP:0002027	Abdominal pain	0	PPOX CL E G H	5498	79473				ORPHA	0	185	9280	600923
HP:0002027	HP:0002027	Abdominal pain	0	PRKCSH CL E G H	5589	2924	Hypoplastic thumbs hydranencephaly			ORPHA	0	28	9411	177060
HP:0002027	HP:0002027	Abdominal pain	0	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	14	9652	600716
HP:0002027	HP:0002027	Abdominal pain	0	PTPN3 CL E G H	5774	70567				ORPHA	0	2	9655	176877
HP:0002027	HP:0002027	Abdominal pain	0	RNF168 CL E G H	165918	420741				ORPHA	0	6	26661	612688
HP:0002027	HP:0002027	Abdominal pain	0	SEC63 CL E G H	11231	2924	Hypoplastic thumbs hydranencephaly			ORPHA	0	23	21082	608648
HP:0002027	HP:0002027	Abdominal pain	0	SLC12A3 CL E G H	6559	263800	Familial hypokalemia-hypomagnesemia	263800	C0268450	OMIM	0	504	10912	600968
HP:0002027	HP:0002027	Abdominal pain	0	SLCO1B1 CL E G H	10599	3111				ORPHA	0	26	10959	604843
HP:0002027	HP:0002027	Abdominal pain	0	SLCO1B3 CL E G H	28234	3111				ORPHA	0	10	10961	605495
HP:0002027	HP:0002027	Abdominal pain	0	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic			ORPHA	0	466	11389	602216
HP:0002027	HP:0002027	Abdominal pain	0	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	0	148	11634	602272
HP:0002027	HP:0002027	Abdominal pain	0	USP8 CL E G H	9101	96253				ORPHA	0	1	12631	603158
HP:0002027	HP:0002027	Abdominal pain	0	VPS13A CL E G H	23230	2388				ORPHA	0	116	1908	605978
HP:0002027	HP:0002027	Abdominal pain	1	ABCC2 CL E G H	1244	234				ORPHA	0	67	53	601107
HP:0002027	HP:0002027	Abdominal pain	1	BCL10 CL E G H	8915	52417				ORPHA	0	3	989	603517
HP:0002027	HP:0002027	Abdominal pain	1	BIRC3 CL E G H	330	52417				ORPHA	0	1	591	601721
HP:0002027	HP:0002027	Abdominal pain	1	CDH23 CL E G H	64072	96253				ORPHA	0	361	13733	605516
HP:0002027	HP:0002027	Abdominal pain	1	DDIT3 CL E G H	1649	99967				ORPHA	0		2726	126337
HP:0002027	HP:0002027	Abdominal pain	1	ELANE CL E G H	1991	2686	Hing Torack Dowston syndrome			ORPHA	0	220	3309	130130
HP:0002027	HP:0002027	Abdominal pain	1	FOXP1 CL E G H	27086	52417				ORPHA	0	76	3823	605515
HP:0002027	HP:0002027	Abdominal pain	1	FUS CL E G H	2521	99967				ORPHA	0	113	4010	137070
HP:0002027	HP:0002027	Abdominal pain	1	GPR35 CL E G H	2859	171	Le Marec Bracq Picaud syndrome			ORPHA	0	2	4492	602646
HP:0002027	HP:0002027	Abdominal pain	1	GUCY2C CL E G H	2984	614616	Diarrhea 6	614616	C3553270	OMIM	0	10	4688	601330
HP:0002027	HP:0002027	Abdominal pain	1	HLA-B CL E G H	3106	36426				ORPHA	0	53	4932	142830
HP:0002027	HP:0002027	Abdominal pain	1	HLA-DRB1 CL E G H	3123	85414				ORPHA	0	26	4948	142857
HP:0002027	HP:0002027	Abdominal pain	1	IGH CL E G H	3492	52417				ORPHA	0		5477	146910
HP:0002027	HP:0002027	Abdominal pain	1	IKZF1 CL E G H	10320	36426				ORPHA	0	38	13176	603023
HP:0002027	HP:0002027	Abdominal pain	1	IL6 CL E G H	3569	85414				ORPHA	0	9	6018	147620
HP:0002027	HP:0002027	Abdominal pain	1	KIT CL E G H	3815	79455				ORPHA	0	121	6342	164920
HP:0002027	HP:0002027	Abdominal pain	1	LACC1 CL E G H	144811	85414				ORPHA	0	3	26789	613409
HP:0002027	HP:0002027	Abdominal pain	1	LRP5 CL E G H	4041	2924	Hypoplastic thumbs hydranencephaly			ORPHA	0	221	6697	603506
HP:0002027	HP:0002027	Abdominal pain	1	MALT1 CL E G H	10892	52417				ORPHA	0	7	6819	604860
HP:0002027	HP:0002027	Abdominal pain	1	MIF CL E G H	4282	85414				ORPHA	0	4	7097	153620
HP:0002027	HP:0002027	Abdominal pain	1	MMUT CL E G H	4594	79312				ORPHA	0		7526	609058
HP:0002027	HP:0002027	Abdominal pain	1	MST1 CL E G H	4485	171	Le Marec Bracq Picaud syndrome			ORPHA	0	1	7380	142408
HP:0002027	HP:0002027	Abdominal pain	1	MYC CL E G H	4609	543				ORPHA	0	8	7553	190080
HP:0002027	HP:0002027	Abdominal pain	1	NLRC4 CL E G H	58484	47045				ORPHA	0	9	16412	606831
HP:0002027	HP:0002027	Abdominal pain	1	NLRP3 CL E G H	114548	47045				ORPHA	0	142	16400	606416
HP:0002027	HP:0002027	Abdominal pain	1	PIGA CL E G H	5277	447				ORPHA	0	29	8957	311770
HP:0002027	HP:0002027	Abdominal pain	1	POMT1 CL E G H	10585	86812				ORPHA	0	96	9202	607423
HP:0002027	HP:0002027	Abdominal pain	1	PORCN CL E G H	64840	2092	Ehrlichiosis			ORPHA	0	121	17652	300651
HP:0002027	HP:0002027	Abdominal pain	1	PPOX CL E G H	5498	79473				ORPHA	0	185	9280	600923
HP:0002027	HP:0002027	Abdominal pain	1	PRKCSH CL E G H	5589	2924	Hypoplastic thumbs hydranencephaly			ORPHA	0	28	9411	177060
HP:0002027	HP:0002027	Abdominal pain	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	14	9652	600716
HP:0002027	HP:0002027	Abdominal pain	1	PTPN3 CL E G H	5774	70567				ORPHA	0	2	9655	176877
HP:0002027	HP:0002027	Abdominal pain	1	RNF168 CL E G H	165918	420741				ORPHA	0	6	26661	612688
HP:0002027	HP:0002027	Abdominal pain	1	SEC63 CL E G H	11231	2924	Hypoplastic thumbs hydranencephaly			ORPHA	0	23	21082	608648
HP:0002027	HP:0002027	Abdominal pain	1	SLC12A3 CL E G H	6559	263800	Familial hypokalemia-hypomagnesemia	263800	C0268450	OMIM	0	504	10912	600968
HP:0002027	HP:0002027	Abdominal pain	1	SLCO1B1 CL E G H	10599	3111				ORPHA	0	26	10959	604843
HP:0002027	HP:0002027	Abdominal pain	1	SLCO1B3 CL E G H	28234	3111				ORPHA	0	10	10961	605495
HP:0002027	HP:0002027	Abdominal pain	1	STK11 CL E G H	6794	2869	Hypertrophic osteoarthropathy, primary or idiopathic			ORPHA	0	466	11389	602216
HP:0002027	HP:0002027	Abdominal pain	1	TCF4 CL E G H	6925	171	Le Marec Bracq Picaud syndrome			ORPHA	0	148	11634	602272
HP:0002027	HP:0002027	Abdominal pain	1	USP8 CL E G H	9101	96253				ORPHA	0	1	12631	603158
HP:0002027	HP:0002027	Abdominal pain	1	VPS13A CL E G H	23230	2388				ORPHA	0	116	1908	605978