Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | | |