Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | | | | 826 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | | | | 245 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | | | | 245 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:240800 | Hypoglycemia of infancy, leucine-sensitive | | | | 245 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 245 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 245 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 85 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | | | | 175 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | | | | 12 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 2 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | | | | 6 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | | | | 29 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | | | | 114 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | | | | 97 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | | | | 182 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 75 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 105 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | | | | 105 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | | | | 23 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 11 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 48 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | | | | 147 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 25 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | | | | 71 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | | | | 60 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | | | | 44 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | | | | 164 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | | | | 156 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | | | | 158 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | | | | 3 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:615363 | Estrogen resistance | | | | 13 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | | | | 13 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | | | | 209 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | | | | 56 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | | | | 26 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | | | | 23 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | | | | 237 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | | | | 237 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 237 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | | | | 56 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | | | | 36 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HADH CL E G H | 3033 | 4799 | OMIM:609975 | Hyperinsulinemic hypoglycemia, familial, 4 | | | | 41 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | | | | 86 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | | | | 161 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 161 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | | | | 138 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 138 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | | | | 148 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | | | | 52 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | | | | 120 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INS CL E G H | 3630 | 6081 | OMIM:616214 | Hyperproinsulinemia | | | | 62 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 62 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | | | | 229 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | | | | 229 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | | | | 229 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | | | | 127 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 127 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 127 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 78 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | | | | 42 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | | | | 645 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | | | | 645 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | | | | 62 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | | | | 53 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MC4R CL E G H | 4160 | 6932 | OMIM:618406 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | | | 54 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | | | | 54 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | | | | 462 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | | | | 75 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | | | | 51 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 32 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | | | | 58 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | | | | 201 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PAPPA2 CL E G H | 60676 | 14615 | OMIM:619489 | SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA | | | | 2 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 55 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | | | | 65 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | | | | 116 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | | | | 126 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | | | | 18 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 30 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | | | | 19 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | | | | 27 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | | | | 180 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | | | | 42 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | | | | 42 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | | | | 39 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | | | | 110 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | | | | 70 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | | | | 51 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | | | | 94 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | | | | 159 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | | | | 108 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | | | | 107 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | | | | 38 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | | | | 111 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | | | | 284 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | | | | 129 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | | | | 200 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | | | | 32 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | | | | 40 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | | | | 83 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | 1 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | | | | 61 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | | | | 7 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | | | | 41 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | | | | 66 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | | | | 777 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | | | | 7 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 30 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0040214 | HP:0040214 | Abnormal circulating insulin concentration | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | | | | 27 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 826 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040281 - Very frequent | | | 245 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | | | | 245 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:240800 | Hypoglycemia of infancy, leucine-sensitive | | | | 245 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | | | | 245 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 245 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 245 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 175 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 2 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | | | | 2 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 6 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 29 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 114 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 97 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 182 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | | | | 75 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 75 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040281 - Very frequent | | | 105 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 23 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 147 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 25 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | | | | 25 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 71 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 60 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 44 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 164 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 156 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 158 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040284 - Very rare | | | 80 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 47 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040282 - Frequent | | | 164 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ESR1 CL E G H | 2099 | 3467 | OMIM:615363 | Estrogen resistance | . | | | 13 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 209 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 56 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 26 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040283 - Occasional | | | 23 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | | | | 237 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | | | | 237 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 237 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | | | | 237 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | | | | 56 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 36 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HADH CL E G H | 3033 | 4799 | OMIM:609975 | Hyperinsulinemic hypoglycemia, familial, 4 | | | | 41 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | . | | | 38 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 86 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040282 - Frequent | | | 161 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 161 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | | | | 161 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 138 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | | | | 138 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 30 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 148 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 52 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 4 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 120 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INS CL E G H | 3630 | 6081 | OMIM:616214 | Hyperproinsulinemia | HP:0040283 - Occasional | | | 62 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 62 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | | | | 62 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0040214 | HP:0034384 | Elevated circulating insulin:C-peptide ratio | 1 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | | | | 229 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | | | | 229 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | | | | 229 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | | | | 127 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 127 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | | | | 127 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 127 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 78 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | | | | 78 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 42 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | HP:0040281 - Very frequent | | | 645 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 62 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | . | | | 63 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 53 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MC4R CL E G H | 4160 | 6932 | OMIM:618406 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 | | | | 54 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MC4R CL E G H | 4160 | 6932 | ORPHA:71529 | Obesity due to melanocortin 4 receptor deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 75 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | . | | | 5 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | | | | 51 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 5 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 32 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | | | | 32 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | . | | | 1 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 58 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 30 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 201 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PAPPA2 CL E G H | 60676 | 14615 | OMIM:619489 | SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA | | | | 2 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 55 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | | | | 55 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 116 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 126 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 18 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | | | | 30 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040282 - Frequent | | | 30 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PLIN1 CL E G H | 5346 | 9076 | ORPHA:280356 | PLIN1-related familial partial lipodystrophy | HP:0040280 - Obligate | | | 19 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 180 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 39 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 110 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 28 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 70 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 51 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 94 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 159 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 108 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 45 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 5 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 28 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 107 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 47 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 38 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 111 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 284 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 45 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 14 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 129 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 200 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 32 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | HP:0040281 - Very frequent | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:369873 | Obesity due to SIM1 deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 4 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 83 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | 1 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 61 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | | | | 7 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 41 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 66 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | | | | 15 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 777 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0040214 | HP:0040216 | Hypoinsulinemia | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 30 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 14 | | |
HP:0040214 | HP:0000842 | Hyperinsulinemia | 1 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 27 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040281 - Very frequent | | | 245 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | . | | | 245 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | ABCC8 CL E G H | 6833 | 59 | OMIM:240800 | Hypoglycemia of infancy, leucine-sensitive | . | | | 245 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 245 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 2 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 75 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 25 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | GCK CL E G H | 2645 | 4195 | OMIM:602485 | Hyperinsulinemic hypoglycemia, familial, 3 | . | | | 237 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040281 - Very frequent | | | 237 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:79299 | Hyperinsulinism due to glucokinase deficiency | HP:0040281 - Very frequent | | | 237 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 237 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | . | | | 56 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | GLUD1 CL E G H | 2746 | 4335 | ORPHA:35878 | Hyperinsulinism-hyperammonemia syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | HADH CL E G H | 3033 | 4799 | OMIM:609975 | Hyperinsulinemic hypoglycemia, familial, 4 | . | | | 41 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 41 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 41 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040281 - Very frequent | | | 161 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 161 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 138 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 62 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | . | | | 229 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | . | | | 229 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | HP:0040281 - Very frequent | | | 229 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:263458 | Hyperinsulinism due to INSR deficiency | HP:0040280 - Obligate | | | 229 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | . | | | 127 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 127 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 78 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | . | | | | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | HP:0040282 - Frequent | | | 51 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 32 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | PAPPA2 CL E G H | 60676 | 14615 | OMIM:619489 | SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA | | | | 2 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 55 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 30 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:610021 | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 | | | | 74 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | HP:0040283 - Occasional | | | 7 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040281 - Very frequent | | | 15 | | |
HP:0040214 | HP:0008283 | Fasting hyperinsulinemia | 2 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0040214 | HP:0000825 | Hyperinsulinemic hypoglycemia | 2 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040281 - Very frequent | | | 7 | | |