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:0002039 | HP:0002039 | Anorexia | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 75 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | . | | | 31 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 145 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ATM CL E G H | 472 | 795 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 3267 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ATRX CL E G H | 546 | 886 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | 169 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 67 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 5769 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 317 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 289 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | DAXX CL E G H | 1616 | 2681 | ORPHA:100075 | Neuroendocrine tumor of stomach | HP:0040282 - Frequent | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040282 - Frequent | | | 291 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040281 - Very frequent | | | 148 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040282 - Frequent | | | 35 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52416 | Mantle cell lymphoma | HP:0040282 - Frequent | | | 7 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 196 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MMADHC CL E G H | 27249 | 25221 | ORPHA:79283 | Methylmalonic acidemia with homocystinuria, type cblD | HP:0040281 - Very frequent | | | 50 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040281 - Very frequent | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 26 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 1349 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 192 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:53035 | Caroli disease | HP:0040283 - Occasional | | | 563 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | PTPN3 CL E G H | 5774 | 9655 | ORPHA:70567 | Cholangiocarcinoma | HP:0040283 - Occasional | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 181 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040281 - Very frequent | | | 77 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040283 - Occasional | | | 55 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040281 - Very frequent | | | 101 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | . | | | 109 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 504 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 45 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040281 - Very frequent | | | 911 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 85 | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0002039 | HP:0002039 | Anorexia | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |