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:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040282 - Frequent	119
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse		1003
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent	70
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0004295	HP:0004295	Abnormal gastric mucosa morphology	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome		389
HP:0004295	HP:0005263	Gastritis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0004295	HP:0002592	Gastric ulcer	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0004295	HP:0005263	Gastritis	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0004295	HP:0005263	Gastritis	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0004295	HP:0005263	Gastritis	1	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse		1003
HP:0004295	HP:0002592	Gastric ulcer	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	3
HP:0004295	HP:0002592	Gastric ulcer	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0004295	HP:0005263	Gastritis	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0004295	HP:0005263	Gastritis	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004295	HP:0005263	Gastritis	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004295	HP:0005263	Gastritis	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0004295	HP:0005263	Gastritis	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0004295	HP:0005263	Gastritis	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004295	HP:0005263	Gastritis	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0004295	HP:0002592	Gastric ulcer	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0004295	HP:0005263	Gastritis	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0004295	HP:0005263	Gastritis	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0004295	HP:0005263	Gastritis	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0004295	HP:0005263	Gastritis	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004295	HP:0005263	Gastritis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004295	HP:0005263	Gastritis	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0004295	HP:0002592	Gastric ulcer	1	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0004295	HP:0005263	Gastritis	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0004295	HP:0005263	Gastritis	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0004295	HP:0005263	Gastritis	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0004295	HP:0005263	Gastritis	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0004295	HP:0005263	Gastritis	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0004295	HP:0005263	Gastritis	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004295	HP:0002592	Gastric ulcer	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional	389
HP:0004295	HP:0410147	Eosinophilic infiltration in the stomach mucosa	2	CL E G H
HP:0004295	HP:0005246	Giant hypertrophic gastritis	2	CL E G H
HP:0004295	HP:0002582	Atrophic gastritis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0004295	HP:0002582	Atrophic gastritis	2	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse	.	1003
HP:0004295	HP:0002582	Atrophic gastritis	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0004295	HP:0002582	Atrophic gastritis	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004295	HP:0005231	Chronic gastritis	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004295	HP:0005231	Chronic gastritis	2	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004295	HP:0002582	Atrophic gastritis	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0004295	HP:0005231	Chronic gastritis	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0004295	HP:0005231	Chronic gastritis	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0004295	HP:0005231	Chronic gastritis	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004295	HP:0002582	Atrophic gastritis	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0004295	HP:0002582	Atrophic gastritis	2	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7