Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 11 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040284 - Very rare | | | 3179 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 790 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 5769 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 7642 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:613347 | Pancreatic cancer, susceptibility to, 2 | . | | | 7642 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:443167 | NUT midline carcinoma | | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 1086 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | | | | 169 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 145 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 102 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 289 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:606719 | Melanoma-Pancreatic cancer syndrome | | | | 289 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 833 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | GCGR CL E G H | 2642 | 4192 | ORPHA:438274 | GCGR-related hyperglucagonemia | HP:0040282 - Frequent | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:260350 | Pancreatic cancer | . | | | 196 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 124 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 462 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 3 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 91 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 532 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:614350 | Colorectal cancer, hereditary nonpolyposis, type 5 | | | | 2232 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 706 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | HP:0040283 - Occasional | | | 144 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | | | | 2 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | NUTM1 CL E G H | 256646 | 29919 | ORPHA:443167 | NUT midline carcinoma | | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 1349 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PALLD CL E G H | 23022 | 17068 | OMIM:606856 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | | | | 192 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040284 - Very rare | | | 13 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | HP:0040283 - Occasional | | | 28 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 23 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040284 - Very rare | | | 134 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RABL3 CL E G H | 285282 | 18072 | OMIM:618680 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 | | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 789 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 391 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | | | | 5 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:260350 | Pancreatic cancer | . | | | 504 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | SPINK1 CL E G H | 6690 | 11244 | OMIM:608189 | Tropical calcific pancreatitis | . | | | 34 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:260350 | Pancreatic cancer | . | | | 740 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 238 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040283 - Occasional | | | 911 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | . | | | 911 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:260350 | Pancreatic cancer | . | | | 911 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 490 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0002894 | HP:0002894 | Neoplasm of the pancreas | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | 177 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 7 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 5769 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 7642 | | |
HP:0002894 | HP:0100757 | Pancreatoblastoma | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:443167 | NUT midline carcinoma | HP:0040282 - Frequent | | | | | |
HP:0002894 | HP:0012142 | Pancreatic squamous cell carcinoma | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:443167 | NUT midline carcinoma | HP:0040283 - Occasional | | | | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040284 - Very rare | | | 169 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040284 - Very rare | | | 169 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 289 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | CDKN2A CL E G H | 1029 | 1787 | OMIM:606719 | Melanoma-Pancreatic cancer syndrome | . | | | 289 | | |
HP:0002894 | HP:0012142 | Pancreatic squamous cell carcinoma | 1 | CDKN2A CL E G H | 1029 | 1787 | OMIM:606719 | Melanoma-Pancreatic cancer syndrome | . | | | 289 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 196 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | NTHL1 CL E G H | 4913 | 8028 | OMIM:616415 | Familial adenomatous polyposis 3 | | | | 2 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | NTHL1 CL E G H | 4913 | 8028 | ORPHA:454840 | NTHL1-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 2 | | |
HP:0002894 | HP:0012142 | Pancreatic squamous cell carcinoma | 1 | NUTM1 CL E G H | 256646 | 29919 | ORPHA:443167 | NUT midline carcinoma | HP:0040283 - Occasional | | | | | |
HP:0002894 | HP:0100757 | Pancreatoblastoma | 1 | NUTM1 CL E G H | 256646 | 29919 | ORPHA:443167 | NUT midline carcinoma | HP:0040282 - Frequent | | | | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 1349 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 192 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | PALLD CL E G H | 23022 | 17068 | OMIM:606856 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | | | | 192 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | RABL3 CL E G H | 285282 | 18072 | OMIM:618680 | PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 | | | | | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 504 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0002894 | HP:0006725 | Pancreatic adenocarcinoma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040280 - Obligate | | | 911 | | |
HP:0002894 | HP:0008261 | Pancreatic islet cell adenoma | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0002894 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0002894 | HP:0008194 | Multiple pancreatic beta-cell adenomas | 2 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | . | | | | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0002894 | HP:0012197 | Insulinoma | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |