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:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 245 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 2 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | HP:0040283 - Occasional | | | 166 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 75 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 289 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 25 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 1371 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1371 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | CTRC CL E G H | 11330 | 2523 | OMIM:167800 | Pancreatitis, hereditary | . | | | 39 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 3 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 237 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 38 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 3 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 161 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 138 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 62 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 127 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 3 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 78 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 196 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 32 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 1349 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 192 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 55 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040284 - Very rare | | | 30 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | . | | | 30 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PRSS1 CL E G H | 5644 | 9475 | OMIM:167800 | Pancreatitis, hereditary | . | | | 51 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PRSS2 CL E G H | 5645 | 9483 | OMIM:167800 | Pancreatitis, hereditary | . | | | 1 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 131 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 5 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 7 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 504 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:167800 | Pancreatitis, hereditary | . | | | 34 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:618752 | NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8 | | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 911 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | | | | 4 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0001738 | HP:0001738 | Exocrine pancreatic insufficiency | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |