Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | ABCA1 CL E G H | 19 | 31150 | | | | ORPHA | 1 | | 1280 | 29 | 600046 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 312 | 15672 | 606941 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 184 | 1373 | 611492 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 135 | 1527 | 601047 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 1009 | 2025 | 602727 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | COG2 CL E G H | 22796 | 435934 | | | | ORPHA | 1 | | 228 | 6546 | 606974 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 339 | 18620 | 606976 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | FERMT3 CL E G H | 83706 | 612840 | Leukocyte adhesion deficiency, type III | 612840 | C2748536 | OMIM | 1 | | 444 | 23151 | 607901 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | GBA CL E G H | 2629 | 608013 | Gaucher disease, perinatal lethal | 608013 | C1842704 | OMIM | 1 | | | 4177 | 606463 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 784 | 4180 | 607839 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | GLRX5 CL E G H | 51218 | 616860 | Sideroblastic anemia 3, pyridoxine-refractory | 616860 | C4225155 | OMIM | 1 | | 111 | 20134 | 609588 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | GNE CL E G H | 10020 | 3166 | Ladda Zonana Ramer syndrome | | | ORPHA | 1 | | 947 | 23657 | 603824 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 187 | 24945 | 612757 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 628 | 4879 | 606873 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1788 | 5391 | 252800 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | IFNGR1 CL E G H | 3459 | 209950 | Disseminated atypical mycobacterial infection | 209950 | C0694566 | OMIM | 1 | | 311 | 5439 | 107470 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | IL2RA CL E G H | 3559 | 606367 | Interleukin 2 receptor, alpha, deficiency of | 606367 | C1853392 | OMIM | 1 | | 306 | 6008 | 147730 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | LBR CL E G H | 3930 | 215140 | Greenberg dysplasia | 215140 | C2931048 | OMIM | 1 | | 357 | 6518 | 600024 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 1 | | 554 | 14154 | 611761 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | LPL CL E G H | 4023 | 238600 | Hyperlipoproteinemia, type I | 238600 | C0023817 | OMIM | 1 | | 688 | 6677 | 609708 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | PEX2 CL E G H | 5828 | 614866 | Peroxisome biogenesis disorder 5a (zellweger) | 614866 | C3553940 | OMIM | 1 | | 463 | 9717 | 170993 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | PSAP CL E G H | 5660 | 610539 | Gaucher disease, atypical, due to saposin C deficiency | 610539 | C1864651 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 128 | 14372 | 607982 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | SLC4A1 CL E G H | 6521 | 611590 | Renal tubular acidosis, distal, with hemolytic anemia | 611590 | C1969038 | OMIM | 1 | | 549 | 11027 | 109270 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | SP110 CL E G H | 3431 | 79124 | | | | ORPHA | 1 | | 437 | 5401 | 604457 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | STAT1 CL E G H | 6772 | 391487 | | | | ORPHA | 1 | | 557 | 11362 | 600555 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | STXBP2 CL E G H | 6813 | 613101 | Hemophagocytic lymphohistiocytosis, familial, 5 | 613101 | C2751293 | OMIM | 1 | | 852 | 11445 | 601717 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | TALDO1 CL E G H | 6888 | 101028 | | | | ORPHA | 1 | | 210 | 11559 | 602063 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | TNFSF11 CL E G H | 8600 | 259710 | Osteopetrosis autosomal recessive 2 | 259710 | C1850126 | OMIM | 1 | | 246 | 11926 | 602642 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | UNC13D CL E G H | 201294 | 608898 | Hemophagocytic lymphohistiocytosis, familial, 3 | 608898 | C1837174 | OMIM | 1 | | 1085 | 23147 | 608897 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | BRCA1 CL E G H | 672 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | BRCA2 CL E G H | 675 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | CCDC115 CL E G H | 84317 | 616828 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | 616828 | C4225191 | OMIM | 0 | | 87 | 28178 | 613734 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | CDKN2A CL E G H | 1029 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1305 | 1787 | 600160 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | CTSA CL E G H | 5476 | 256540 | Combined deficiency of sialidase AND beta galactosidase | 256540 | C0268233 | OMIM | 0 | | 348 | 9251 | 613111 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | FGFR2 CL E G H | 2263 | 313855 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | FGFR2 CL E G H | 2263 | 614592 | Bent bone dysplasia syndrome | 614592 | C3281247 | OMIM | 0 | | 685 | 3689 | 176943 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | KRAS CL E G H | 3845 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | NPHP3 CL E G H | 27031 | 267010 | Meckel syndrome type 7 | 267010 | C2673885 | OMIM | 0 | | 1106 | 7907 | 608002 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | PALB2 CL E G H | 79728 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | PALLD CL E G H | 23022 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1741 | 17068 | 608092 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | RBM8A CL E G H | 9939 | 274000 | Radial aplasia-thrombocytopenia syndrome | 274000 | C0175703 | OMIM | 0 | | 252 | 9905 | 605313 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | SC5D CL E G H | 6309 | 607330 | Lathosterolosis | 607330 | C1846421 | OMIM | 0 | | 242 | 10547 | 602286 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | SMAD4 CL E G H | 4089 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 1898 | 6770 | 600993 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | STEAP3 CL E G H | 55240 | 300298 | | | | ORPHA | 0 | | 94 | 24592 | 609671 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | TP53 CL E G H | 7157 | 1333 | Chromosome 19, ring | | CN036553 | ORPHA | 0 | | 2977 | 11998 | 191170 |
HP:0001433 | HP:0001433 | Hepatosplenomegaly | 0 | XK CL E G H | 7504 | 300842 | McLeod neuroacanthocytosis syndrome | 300842 | C0398568 | OMIM | 0 | | 218 | 12811 | 314850 |