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:0001993 | HP:0001993 | Ketoacidosis | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 245 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | ACAT1 CL E G H | 38 | 93 | OMIM:203750 | Alpha-Methylacetoacetic aciduria | | | | 91 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | HP:0040283 - Occasional | | | 68 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | ACSF3 CL E G H | 197322 | 27288 | OMIM:614265 | Combined malonic and methylmalonic aciduria | . | | | 68 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | . | | | 10 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | DLD CL E G H | 1738 | 2898 | OMIM:246900 | Dihydrolipoamide dehydrogenase deficiency | | | | 89 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | HNF1A CL E G H | 6927 | 11621 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 161 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | | | | 138 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 2 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | | | | 229 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | ITPR3 CL E G H | 3710 | 6182 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | . | | | 105 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:618856 | DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2 | | | | 127 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 127 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | | | | | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | OXCT1 CL E G H | 5019 | 8527 | OMIM:245050 | Succinyl CoA:3-oxoacid CoA transferase deficiency | | | | 52 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | . | | | 55 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:222100 | Diabetes mellitus, insulin-dependent-1 | . | | | 3 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | | | | 66 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:616095 | Monocarboxylate transporter 1 deficiency | . | | | 74 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | HP:0040283 - Occasional | | | 8 | | |
HP:0001993 | HP:0001993 | Ketoacidosis | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 30 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 245 | | |
HP:0001993 | HP:0005974 | Episodic ketoacidosis | 1 | ACAT1 CL E G H | 38 | 93 | OMIM:203750 | Alpha-Methylacetoacetic aciduria | . | | | 91 | | |
HP:0001993 | HP:0005979 | Metabolic ketoacidosis | 1 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040281 - Very frequent | | | 223 | | |
HP:0001993 | HP:0005979 | Metabolic ketoacidosis | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | CIDEC CL E G H | 63924 | 24229 | OMIM:615238 | Lipodystrophy, familial partial, type 5 | | | | 8 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0001993 | HP:0005974 | Episodic ketoacidosis | 1 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | . | | | 12 | | |
HP:0001993 | HP:0005979 | Metabolic ketoacidosis | 1 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0001993 | HP:0005979 | Metabolic ketoacidosis | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040282 - Frequent | | | 138 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | INS CL E G H | 3630 | 6081 | OMIM:618858 | DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 | | | | 62 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | INS CL E G H | 3630 | 6081 | OMIM:613370 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 | | | | 62 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 127 | | |
HP:0001993 | HP:0005979 | Metabolic ketoacidosis | 1 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001993 | HP:0005974 | Episodic ketoacidosis | 1 | OXCT1 CL E G H | 5019 | 8527 | OMIM:245050 | Succinyl CoA:3-oxoacid CoA transferase deficiency | | | | 52 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0001993 | HP:0005974 | Episodic ketoacidosis | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | HP:0040281 - Very frequent | | | 66 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0001993 | HP:0001953 | Diabetic ketoacidosis | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040284 - Very rare | | | 30 | | |