* We recommend a score >= 0.08 for meaningful Gene-Disease associations

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
5495PPM1BC1848030Hypotonia-Cystinuria Syndrome0.400274726784213BEFREE;CTD_human;ORPHANET
5495PPM1BC1857486Low-set, posteriorly rotated ears0.2HPO
5495PPM1BC0456070Growth delay0.2HPO
5495PPM1BC0557874Global developmental delay0.2HPO
5495PPM1BC0566620Nasal voice0.2HPO
5495PPM1BC0878787Growth failure0.2HPO
5495PPM1BC1836542Depressed nasal bridge0.2HPO
5495PPM1BC1837385Poor growth0.2HPO
5495PPM1BC1853738Long eyelashes0.2HPO
5495PPM1BC0454555Hypernasal voice0.2HPO
5495PPM1BC1864897Cognitive delay0.2HPO
5495PPM1BC2315100Pediatric failure to thrive0.2HPO
5495PPM1BC2751582Mitochondrial respiratory chain defects0.2HPO
5495PPM1BC3550546Depressed nasal root/bridge0.2HPO
5495PPM1BC3552463Very poor growth0.2HPO
5495PPM1BC4020875Mental and motor retardation0.2HPO
5495PPM1BC4280495Concave bridge of nose0.2HPO
5495PPM1BC0392525Nephrolithiasis0.2HPO
5495PPM1BC0010691Cystinuria0.2HPO
5495PPM1BC0014544Epilepsy0.2HPO
5495PPM1BC0020598Hypocalcemia0.2HPO
5495PPM1BC0020619Hypogonadism0.2HPO
5495PPM1BC0026351Moderate mental retardation (I.Q. 35-49)0.2HPO
5495PPM1BC0026827Muscle hypotonia0.2HPO
5495PPM1BC0036572Seizures0.2HPO
5495PPM1BC0151686Growth retardation0.2HPO
5495PPM1BC0151744Myocardial Ischemia0.2CTD_human
5495PPM1BC0221354Frontal bossing0.2HPO
5495PPM1BC0231246Failure to gain weight0.2HPO
5495PPM1BC0347959Lactic acidemia0.2HPO
5495PPM1BC0001125Acidosis, Lactic0.2HPO
5495PPM1BC0040336Tobacco Use Disorder0.002407028523288GAD
5495PPM1BC0699885Carcinoma of bladder0.0002747267842131BEFREE
5495PPM1BC0005695Bladder Neoplasm0.0002747267842131BEFREE
5495PPM1BC0005684Malignant neoplasm of urinary bladder0.0002747267842131BEFREE