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:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040283 - Occasional | | | 90 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | APC CL E G H | 324 | 583 | OMIM:114550 | Hepatocellular carcinoma | . | | | 3179 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:301045 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R | | | | 36 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | AXIN1 CL E G H | 8312 | 903 | OMIM:114550 | Hepatocellular carcinoma | . | | | 3 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:114550 | Hepatocellular carcinoma | . | | | 37 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:114550 | Hepatocellular carcinoma | . | | | 88 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | IGF2R CL E G H | 3482 | 5467 | OMIM:114550 | Hepatocellular carcinoma | . | | | 4 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | KRT18 CL E G H | 3875 | 6430 | OMIM:215600 | Cirrhosis, familial | . | | | 19 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | MET CL E G H | 4233 | 7029 | OMIM:114550 | Hepatocellular carcinoma | . | | | 375 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | PDGFRL CL E G H | 5157 | 8805 | OMIM:114550 | Hepatocellular carcinoma | . | | | 2 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:114550 | Hepatocellular carcinoma | . | | | 162 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:114550 | Hepatocellular carcinoma | . | | | 911 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | HP:0040283 - Occasional | | | 56 | | |
HP:0001413 | HP:0001413 | Micronodular cirrhosis | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |