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:0001259 | HP:0001259 | Coma | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | | | | 245 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:240800 | Hypoglycemia of infancy, leucine-sensitive | . | | | 245 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ACADM CL E G H | 34 | 89 | OMIM:201450 | Acyl-Coa dehydrogenase, medium-chain, deficiency of | . | | | 197 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0001259 | HP:0001259 | Coma | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | | | | 12 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ALDOB CL E G H | 229 | 417 | ORPHA:469 | Hereditary fructose intolerance | HP:0040284 - Very rare | | | 73 | | |
HP:0001259 | HP:0001259 | Coma | 0 | APP CL E G H | 351 | 620 | ORPHA:324713 | ABeta amyloidosis, Italian type | HP:0040282 - Frequent | | | 74 | | |
HP:0001259 | HP:0001259 | Coma | 0 | APP CL E G H | 351 | 620 | ORPHA:324703 | ABetaL34V amyloidosis | HP:0040281 - Very frequent | | | 74 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 239 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0001259 | HP:0001259 | Coma | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | HP:0040283 - Occasional | | | 49 | | |
HP:0001259 | HP:0001259 | Coma | 0 | BCKDHA CL E G H | 593 | 986 | OMIM:248600 | Maple syrup urine disease | . | | | 120 | | |
HP:0001259 | HP:0001259 | Coma | 0 | BCKDHB CL E G H | 594 | 987 | OMIM:248600 | Maple syrup urine disease | . | | | 162 | | |
HP:0001259 | HP:0001259 | Coma | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 276 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 449 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 102 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CPT1A CL E G H | 1374 | 2328 | ORPHA:156 | Carnitine palmitoyl transferase 1A deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040283 - Occasional | | | 101 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:614212 | Encephalopathy, acute, infection-induced, susceptibility to, 4 | . | | | 101 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040284 - Very rare | | | 88 | | |
HP:0001259 | HP:0001259 | Coma | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0001259 | HP:0001259 | Coma | 0 | DBT CL E G H | 1629 | 2698 | OMIM:248600 | Maple syrup urine disease | . | | | 156 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 37 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 27 | | |
HP:0001259 | HP:0001259 | Coma | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 77 | | |
HP:0001259 | HP:0001259 | Coma | 0 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | . | | | 64 | | |
HP:0001259 | HP:0001259 | Coma | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0001259 | HP:0001259 | Coma | 0 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | | | | 237 | | |
HP:0001259 | HP:0001259 | Coma | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0001259 | HP:0001259 | Coma | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 237 | | |
HP:0001259 | HP:0001259 | Coma | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0001259 | HP:0001259 | Coma | 0 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HADH CL E G H | 3033 | 4799 | OMIM:609975 | Hyperinsulinemic hypoglycemia, familial, 4 | | | | 41 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040283 - Occasional | | | 148 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040284 - Very rare | | | 81 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | | | | 161 | | |
HP:0001259 | HP:0001259 | Coma | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0001259 | HP:0001259 | Coma | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 62 | | |
HP:0001259 | HP:0001259 | Coma | 0 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | | | | 229 | | |
HP:0001259 | HP:0001259 | Coma | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | HP:0040283 - Occasional | | | 229 | | |
HP:0001259 | HP:0001259 | Coma | 0 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | . | | | 105 | | |
HP:0001259 | HP:0001259 | Coma | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0001259 | HP:0001259 | Coma | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0001259 | HP:0001259 | Coma | 0 | KYNU CL E G H | 8942 | 6469 | ORPHA:79155 | Hydroxykynureninuria | HP:0040283 - Occasional | | | 5 | | |
HP:0001259 | HP:0001259 | Coma | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MC2R CL E G H | 4158 | 6930 | OMIM:202200 | Glucocorticoid deficiency 1 | . | | | 94 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 462 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0001259 | HP:0001259 | Coma | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040281 - Very frequent | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040281 - Very frequent | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0001259 | HP:0001259 | Coma | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0001259 | HP:0001259 | Coma | 0 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | . | | | 36 | | |
HP:0001259 | HP:0001259 | Coma | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | . | | | 9 | | |
HP:0001259 | HP:0001259 | Coma | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0001259 | HP:0001259 | Coma | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0001259 | HP:0001259 | Coma | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0001259 | HP:0001259 | Coma | 0 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | | | | 13 | | |
HP:0001259 | HP:0001259 | Coma | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0001259 | HP:0001259 | Coma | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0001259 | HP:0001259 | Coma | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0001259 | HP:0001259 | Coma | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0001259 | HP:0001259 | Coma | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:726 | Alpers-Huttenlocher syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0001259 | HP:0001259 | Coma | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040284 - Very rare | | | 41 | | |
HP:0001259 | HP:0001259 | Coma | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 58 | | |
HP:0001259 | HP:0001259 | Coma | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0001259 | HP:0001259 | Coma | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 94 | | |
HP:0001259 | HP:0001259 | Coma | 0 | RANBP2 CL E G H | 5903 | 9848 | OMIM:608033 | Encephalopathy, acute, infection-induced, susceptibility to, 3 | . | | | 57 | | |
HP:0001259 | HP:0001259 | Coma | 0 | RANBP2 CL E G H | 5903 | 9848 | ORPHA:88619 | Familial acute necrotizing encephalopathy | HP:0040281 - Very frequent | | | 57 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 1053 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040283 - Occasional | | | 82 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | . | | | 82 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040283 - Occasional | | | 104 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0001259 | HP:0001259 | Coma | 0 | SQOR CL E G H | 58472 | 20390 | OMIM:619221 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD | | | | | | |
HP:0001259 | HP:0001259 | Coma | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0001259 | HP:0001259 | Coma | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 110 | | |
HP:0001259 | HP:0001259 | Coma | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 85 | | |
HP:0001259 | HP:0001259 | Coma | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 70 | | |
HP:0001259 | HP:0001259 | Coma | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 20 | | |
HP:0001259 | HP:0001259 | Coma | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 6 | | |
HP:0001259 | HP:0001259 | Coma | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 3 | | |
HP:0001259 | HP:0001259 | Coma | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 2 | | |
HP:0001259 | HP:0001259 | Coma | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0001259 | HP:0001259 | Coma | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0001259 | HP:0001259 | Coma | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 116 | | |
HP:0001259 | HP:0001259 | Coma | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 5 | | |
HP:0001259 | HP:0001259 | Coma | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 7 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040283 - Occasional | | | 245 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | . | | | 245 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | . | | | 237 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | . | | | 56 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | HADH CL E G H | 3033 | 4799 | OMIM:609975 | Hyperinsulinemic hypoglycemia, familial, 4 | . | | | 41 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040284 - Very rare | | | 35 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040283 - Occasional | | | 161 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | . | | | 229 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 94 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 26 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 13 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 45 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 85 | | |
HP:0001259 | HP:0001325 | Hypoglycemic coma | 1 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040283 - Occasional | | | 15 | | |