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:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 2 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | AICDA CL E G H | 57379 | 13203 | OMIM:605258 | Immunodeficiency with hyper-igm, type 2 | . | | | 58 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040281 - Very frequent | | | 118 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040283 - Occasional | | | 67 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | | | | 5 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 257 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | | | | 11 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:600263 | Helicobacter pylori infection, susceptibility to | | | | 60 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | IRF9 CL E G H | 10379 | 6131 | OMIM:618648 | IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65 | | | | | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | . | | | 27 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040281 - Very frequent | | | 38 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040281 - Very frequent | | | 26 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040281 - Very frequent | | | 34 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | | | | 2 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | | | | 2 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:609529 | Immunoglobulin A deficiency 2 | . | | | 32 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | . | | | 24 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:600263 | Helicobacter pylori infection, susceptibility to | . | | | 60 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | IRF9 CL E G H | 10379 | 6131 | OMIM:618648 | IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65 | | | | | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |