Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Abnormal circulating hormone concentration (HP:0003117)help
..Starting node
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Abnormal circulating insulin concentration (HP:0040214)help
Term ID: 40214
Name: Abnormal circulating insulin concentration
Synonym: Abnormal insulin level
Definition: An abnormal concentration of insulin in the body.
Comments:
Reference: HP:0040214
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal circulating insulin level (HP:0040215) help
................... HP:0000842 Hyperinsulinemia
................... HP:0040216 Hypoinsulinemia

 Sister Nodes: 
..expandAbnormal adiponectin level (HP:0030684) help
..expandAbnormal circulating adrenocorticotropin concentration (HP:0011043) help
..expandAbnormal circulating androgen level (HP:0030347) help
..expandAbnormal circulating antimullerian hormone concentration (HP:0031101) help
..expandAbnormal circulating estrogen level (HP:0025132) help
..expandAbnormal circulating gonadotropin concentration (HP:0030338) help
..expandAbnormal circulating inhibin level (HP:0031099) help
..expandAbnormal circulating leptin concentration (HP:0004361) help
..expandAbnormal circulating osteocalcin level (HP:0031427) help
..expandAbnormal circulating pregnenolone concentration (HP:0031187) help
..expandAbnormal circulating progesterone level (HP:0031212) help
..expandAbnormal circulating thyroid hormone concentration (HP:0031508) help
..expandAbnormal glucagon level (HP:0030687) help
..expandAbnormal gonadotropin-releasing hormone concentration (HP:0500012) help
..expandAbnormal serum insulin-like growth factor 1 level (HP:0030352) help
..expandAbnormality of circulating catecholamine level (HP:0012099) help
..expandAbnormality of circulating glucocorticoid level (HP:0012111) help
..expandDecreased circulating dehydroepiandrosterone concentration (HP:0031214) help
..expandDecreased circulating dehydroepiandrosterone-sulfate concentration (HP:0031215) help
..expandDecreased circulating parathyroid hormone level (HP:0031817) help
..expandDecreased response to growth hormone stimulation test (HP:0000824) help
..expandElevated circulating parathyroid hormone level (HP:0003165) help
..expandElevated vascular endothelial growth factor level (HP:0031052) help
..expandFasting hypoglycemia (HP:0003162) help
..expandIncreased pituitary glycoprotein hormone alpha subunit level (HP:0031208) help
..expandIncreased serum serotonin (HP:0003144) help
..expandobsolete Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040214HP:0040214Abnormal circulating insulin concentration0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosa826
HP:0040214HP:0040214Abnormal circulating insulin concentration0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0040214HP:0040214Abnormal circulating insulin concentration0ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1245
HP:0040214HP:0040214Abnormal circulating insulin concentration0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive245
HP:0040214HP:0040214Abnormal circulating insulin concentration0ABCC8 CL E G H683359ORPHA:552MODYHP:0040282 - Frequent245
HP:0040214HP:0040214Abnormal circulating insulin concentration0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0040214HP:0040214Abnormal circulating insulin concentration0ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19
HP:0040214HP:0040214Abnormal circulating insulin concentration0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosa2
HP:0040214HP:0040214Abnormal circulating insulin concentration0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0040214HP:0040214Abnormal circulating insulin concentration0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0040214HP:0040214Abnormal circulating insulin concentration0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosa175
HP:0040214HP:0040214Abnormal circulating insulin concentration0AHR CL E G H196348ORPHA:791Retinitis pigmentosa2
HP:0040214HP:0040214Abnormal circulating insulin concentration0AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophy12
HP:0040214HP:0040214Abnormal circulating insulin concentration0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0040214HP:0040214Abnormal circulating insulin concentration0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0040214HP:0040214Abnormal circulating insulin concentration0APPL1 CL E G H2606024035ORPHA:552MODYHP:0040282 - Frequent2
HP:0040214HP:0040214Abnormal circulating insulin concentration0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosa6
HP:0040214HP:0040214Abnormal circulating insulin concentration0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosa3
HP:0040214HP:0040214Abnormal circulating insulin concentration0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosa1
HP:0040214HP:0040214Abnormal circulating insulin concentration0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosa29
HP:0040214HP:0040214Abnormal circulating insulin concentration0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosa114
HP:0040214HP:0040214Abnormal circulating insulin concentration0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosa97
HP:0040214HP:0040214Abnormal circulating insulin concentration0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosa182
HP:0040214HP:0040214Abnormal circulating insulin concentration0BLK CL E G H6401057ORPHA:552MODYHP:0040282 - Frequent75
HP:0040214HP:0040214Abnormal circulating insulin concentration0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0040214HP:0040214Abnormal circulating insulin concentration0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0040214HP:0040214Abnormal circulating insulin concentration0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0040214HP:0040214Abnormal circulating insulin concentration0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosa23
HP:0040214HP:0040214Abnormal circulating insulin concentration0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0040214HP:0040214Abnormal circulating insulin concentration0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0040214HP:0040214Abnormal circulating insulin concentration0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0040214HP:0040214Abnormal circulating insulin concentration0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosa147
HP:0040214HP:0040214Abnormal circulating insulin concentration0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0040214HP:0040214Abnormal circulating insulin concentration0CEL CL E G H10561848ORPHA:552MODYHP:0040282 - Frequent25
HP:0040214HP:0040214Abnormal circulating insulin concentration0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosa71
HP:0040214HP:0040214Abnormal circulating insulin concentration0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosa
HP:0040214HP:0040214Abnormal circulating insulin concentration0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosa60
HP:0040214HP:0040214Abnormal circulating insulin concentration0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosa44
HP:0040214HP:0040214Abnormal circulating insulin concentration0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosa164
HP:0040214HP:0040214Abnormal circulating insulin concentration0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0040214HP:0040214Abnormal circulating insulin concentration0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosa156
HP:0040214HP:0040214Abnormal circulating insulin concentration0CRX CL E G H14062383ORPHA:791Retinitis pigmentosa158
HP:0040214HP:0040214Abnormal circulating insulin concentration0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0040214HP:0040214Abnormal circulating insulin concentration0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0040214HP:0040214Abnormal circulating insulin concentration0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosa47
HP:0040214HP:0040214Abnormal circulating insulin concentration0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosa1
HP:0040214HP:0040214Abnormal circulating insulin concentration0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0040214HP:0040214Abnormal circulating insulin concentration0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0040214HP:0040214Abnormal circulating insulin concentration0ESR1 CL E G H20993467OMIM:615363Estrogen resistance13
HP:0040214HP:0040214Abnormal circulating insulin concentration0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndrome13
HP:0040214HP:0040214Abnormal circulating insulin concentration0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosa209
HP:0040214HP:0040214Abnormal circulating insulin concentration0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosa56
HP:0040214HP:0040214Abnormal circulating insulin concentration0FOCAD CL E G H5491423377OMIM:6199913
HP:0040214HP:0040214Abnormal circulating insulin concentration0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0040214HP:0040214Abnormal circulating insulin concentration0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosa26
HP:0040214HP:0040214Abnormal circulating insulin concentration0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiency23
HP:0040214HP:0040214Abnormal circulating insulin concentration0GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3237
HP:0040214HP:0040214Abnormal circulating insulin concentration0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0040214HP:0040214Abnormal circulating insulin concentration0GCK CL E G H26454195ORPHA:552MODYHP:0040282 - Frequent237
HP:0040214HP:0040214Abnormal circulating insulin concentration0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0040214HP:0040214Abnormal circulating insulin concentration0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0040214HP:0040214Abnormal circulating insulin concentration0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosa36
HP:0040214HP:0040214Abnormal circulating insulin concentration0HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 441
HP:0040214HP:0040214Abnormal circulating insulin concentration0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0040214HP:0040214Abnormal circulating insulin concentration0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0040214HP:0040214Abnormal circulating insulin concentration0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosa86
HP:0040214HP:0040214Abnormal circulating insulin concentration0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0040214HP:0040214Abnormal circulating insulin concentration0HNF1A CL E G H692711621ORPHA:552MODYHP:0040282 - Frequent161
HP:0040214HP:0040214Abnormal circulating insulin concentration0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0040214HP:0040214Abnormal circulating insulin concentration0HNF4A CL E G H31725024ORPHA:552MODYHP:0040282 - Frequent138
HP:0040214HP:0040214Abnormal circulating insulin concentration0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitus
HP:0040214HP:0040214Abnormal circulating insulin concentration0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosa
HP:0040214HP:0040214Abnormal circulating insulin concentration0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosa30
HP:0040214HP:0040214Abnormal circulating insulin concentration0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosa148
HP:0040214HP:0040214Abnormal circulating insulin concentration0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosa48
HP:0040214HP:0040214Abnormal circulating insulin concentration0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosa3
HP:0040214HP:0040214Abnormal circulating insulin concentration0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosa52
HP:0040214HP:0040214Abnormal circulating insulin concentration0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosa4
HP:0040214HP:0040214Abnormal circulating insulin concentration0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosa120
HP:0040214HP:0040214Abnormal circulating insulin concentration0INS CL E G H36306081OMIM:616214Hyperproinsulinemia62
HP:0040214HP:0040214Abnormal circulating insulin concentration0INS CL E G H36306081ORPHA:552MODYHP:0040282 - Frequent62
HP:0040214HP:0040214Abnormal circulating insulin concentration0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0040214HP:0040214Abnormal circulating insulin concentration0INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5229
HP:0040214HP:0040214Abnormal circulating insulin concentration0INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiency229
HP:0040214HP:0040214Abnormal circulating insulin concentration0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0040214HP:0040214Abnormal circulating insulin concentration0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities229
HP:0040214HP:0040214Abnormal circulating insulin concentration0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0040214HP:0040214Abnormal circulating insulin concentration0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0040214HP:0040214Abnormal circulating insulin concentration0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0040214HP:0040214Abnormal circulating insulin concentration0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0040214HP:0040214Abnormal circulating insulin concentration0KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2127
HP:0040214HP:0040214Abnormal circulating insulin concentration0KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040282 - Frequent127
HP:0040214HP:0040214Abnormal circulating insulin concentration0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitus127
HP:0040214HP:0040214Abnormal circulating insulin concentration0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosa
HP:0040214HP:0040214Abnormal circulating insulin concentration0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosa3
HP:0040214HP:0040214Abnormal circulating insulin concentration0KLF11 CL E G H846211811ORPHA:552MODYHP:0040282 - Frequent78
HP:0040214HP:0040214Abnormal circulating insulin concentration0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosa42
HP:0040214HP:0040214Abnormal circulating insulin concentration0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0040214HP:0040214Abnormal circulating insulin concentration0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0040214HP:0040214Abnormal circulating insulin concentration0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0040214HP:0040214Abnormal circulating insulin concentration0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0040214HP:0040214Abnormal circulating insulin concentration0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0040214HP:0040214Abnormal circulating insulin concentration0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0040214HP:0040214Abnormal circulating insulin concentration0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosa62
HP:0040214HP:0040214Abnormal circulating insulin concentration0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0040214HP:0040214Abnormal circulating insulin concentration0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0040214HP:0040214Abnormal circulating insulin concentration0MAK CL E G H41176816ORPHA:791Retinitis pigmentosa53
HP:0040214HP:0040214Abnormal circulating insulin concentration0MC4R CL E G H41606932OMIM:618406BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ2054
HP:0040214HP:0040214Abnormal circulating insulin concentration0MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiency54
HP:0040214HP:0040214Abnormal circulating insulin concentration0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0040214HP:0040214Abnormal circulating insulin concentration0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosa75
HP:0040214HP:0040214Abnormal circulating insulin concentration0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0040214HP:0040214Abnormal circulating insulin concentration0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0040214HP:0040214Abnormal circulating insulin concentration0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0040214HP:0040214Abnormal circulating insulin concentration0MPI CL E G H43517216ORPHA:79319MPI-CDG51
HP:0040214HP:0040214Abnormal circulating insulin concentration0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytoma
HP:0040214HP:0040214Abnormal circulating insulin concentration0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosa5
HP:0040214HP:0040214Abnormal circulating insulin concentration0NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040282 - Frequent32
HP:0040214HP:0040214Abnormal circulating insulin concentration0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0040214HP:0040214Abnormal circulating insulin concentration0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosa58
HP:0040214HP:0040214Abnormal circulating insulin concentration0NRL CL E G H49018002ORPHA:791Retinitis pigmentosa30
HP:0040214HP:0040214Abnormal circulating insulin concentration0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosa201
HP:0040214HP:0040214Abnormal circulating insulin concentration0PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0040214HP:0040214Abnormal circulating insulin concentration0PAX4 CL E G H50788618ORPHA:552MODYHP:0040282 - Frequent55
HP:0040214HP:0040214Abnormal circulating insulin concentration0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosa
HP:0040214HP:0040214Abnormal circulating insulin concentration0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiency65
HP:0040214HP:0040214Abnormal circulating insulin concentration0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosa116
HP:0040214HP:0040214Abnormal circulating insulin concentration0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosa126
HP:0040214HP:0040214Abnormal circulating insulin concentration0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosa18
HP:0040214HP:0040214Abnormal circulating insulin concentration0PDX1 CL E G H36516107ORPHA:552MODYHP:0040282 - Frequent30
HP:0040214HP:0040214Abnormal circulating insulin concentration0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitus
HP:0040214HP:0040214Abnormal circulating insulin concentration0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0040214HP:0040214Abnormal circulating insulin concentration0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0040214HP:0040214Abnormal circulating insulin concentration0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiency27
HP:0040214HP:0040214Abnormal circulating insulin concentration0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosa180
HP:0040214HP:0040214Abnormal circulating insulin concentration0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0040214HP:0040214Abnormal circulating insulin concentration0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0040214HP:0040214Abnormal circulating insulin concentration0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosa39
HP:0040214HP:0040214Abnormal circulating insulin concentration0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosa110
HP:0040214HP:0040214Abnormal circulating insulin concentration0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosa28
HP:0040214HP:0040214Abnormal circulating insulin concentration0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosa70
HP:0040214HP:0040214Abnormal circulating insulin concentration0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosa2
HP:0040214HP:0040214Abnormal circulating insulin concentration0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosa51
HP:0040214HP:0040214Abnormal circulating insulin concentration0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosa94
HP:0040214HP:0040214Abnormal circulating insulin concentration0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosa159
HP:0040214HP:0040214Abnormal circulating insulin concentration0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0040214HP:0040214Abnormal circulating insulin concentration0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0040214HP:0040214Abnormal circulating insulin concentration0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosa108
HP:0040214HP:0040214Abnormal circulating insulin concentration0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosa45
HP:0040214HP:0040214Abnormal circulating insulin concentration0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosa5
HP:0040214HP:0040214Abnormal circulating insulin concentration0RGR CL E G H59959990ORPHA:791Retinitis pigmentosa28
HP:0040214HP:0040214Abnormal circulating insulin concentration0RHO CL E G H601010012ORPHA:791Retinitis pigmentosa107
HP:0040214HP:0040214Abnormal circulating insulin concentration0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosa47
HP:0040214HP:0040214Abnormal circulating insulin concentration0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0040214HP:0040214Abnormal circulating insulin concentration0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosa38
HP:0040214HP:0040214Abnormal circulating insulin concentration0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosa111
HP:0040214HP:0040214Abnormal circulating insulin concentration0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosa284
HP:0040214HP:0040214Abnormal circulating insulin concentration0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosa45
HP:0040214HP:0040214Abnormal circulating insulin concentration0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosa14
HP:0040214HP:0040214Abnormal circulating insulin concentration0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosa129
HP:0040214HP:0040214Abnormal circulating insulin concentration0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosa200
HP:0040214HP:0040214Abnormal circulating insulin concentration0SAG CL E G H629510521ORPHA:791Retinitis pigmentosa32
HP:0040214HP:0040214Abnormal circulating insulin concentration0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosa
HP:0040214HP:0040214Abnormal circulating insulin concentration0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0040214HP:0040214Abnormal circulating insulin concentration0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosa48
HP:0040214HP:0040214Abnormal circulating insulin concentration0SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0040214HP:0040214Abnormal circulating insulin concentration0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiency40
HP:0040214HP:0040214Abnormal circulating insulin concentration0SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0040214HP:0040214Abnormal circulating insulin concentration0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosa4
HP:0040214HP:0040214Abnormal circulating insulin concentration0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0040214HP:0040214Abnormal circulating insulin concentration0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0040214HP:0040214Abnormal circulating insulin concentration0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosa83
HP:0040214HP:0040214Abnormal circulating insulin concentration0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosa48
HP:0040214HP:0040214Abnormal circulating insulin concentration0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytoma1
HP:0040214HP:0040214Abnormal circulating insulin concentration0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosa61
HP:0040214HP:0040214Abnormal circulating insulin concentration0TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 17
HP:0040214HP:0040214Abnormal circulating insulin concentration0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosa41
HP:0040214HP:0040214Abnormal circulating insulin concentration0TUB CL E G H727512406ORPHA:791Retinitis pigmentosa1
HP:0040214HP:0040214Abnormal circulating insulin concentration0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosa66
HP:0040214HP:0040214Abnormal circulating insulin concentration0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0040214HP:0040214Abnormal circulating insulin concentration0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosa777
HP:0040214HP:0040214Abnormal circulating insulin concentration0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0040214HP:0040214Abnormal circulating insulin concentration0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitus30
HP:0040214HP:0040214Abnormal circulating insulin concentration0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0040214HP:0040214Abnormal circulating insulin concentration0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosa14
HP:0040214HP:0040214Abnormal circulating insulin concentration0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosa27
HP:0040214HP:0000842Hyperinsulinemia1ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent826
HP:0040214HP:0000842Hyperinsulinemia1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040281 - Very frequent245
HP:0040214HP:0000842Hyperinsulinemia1ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1245
HP:0040214HP:0000842Hyperinsulinemia1ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive245
HP:0040214HP:0000842Hyperinsulinemia1ABCC8 CL E G H683359ORPHA:552MODY245
HP:0040214HP:0040216Hypoinsulinemia1ABCC8 CL E G H683359ORPHA:552MODYHP:0040282 - Frequent245
HP:0040214HP:0040216Hypoinsulinemia1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040281 - Very frequent245
HP:0040214HP:0000842Hyperinsulinemia1ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19
HP:0040214HP:0000842Hyperinsulinemia1AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0040214HP:0000842Hyperinsulinemia1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0040214HP:0000842Hyperinsulinemia1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0040214HP:0000842Hyperinsulinemia1AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent175
HP:0040214HP:0000842Hyperinsulinemia1AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0040214HP:0000842Hyperinsulinemia1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0040214HP:0000842Hyperinsulinemia1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0040214HP:0040216Hypoinsulinemia1APPL1 CL E G H2606024035ORPHA:552MODYHP:0040282 - Frequent2
HP:0040214HP:0000842Hyperinsulinemia1APPL1 CL E G H2606024035ORPHA:552MODY2
HP:0040214HP:0000842Hyperinsulinemia1ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent6
HP:0040214HP:0000842Hyperinsulinemia1ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0040214HP:0000842Hyperinsulinemia1ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0040214HP:0000842Hyperinsulinemia1ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent29
HP:0040214HP:0000842Hyperinsulinemia1BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent114
HP:0040214HP:0000842Hyperinsulinemia1BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent97
HP:0040214HP:0000842Hyperinsulinemia1BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent182
HP:0040214HP:0000842Hyperinsulinemia1BLK CL E G H6401057ORPHA:552MODY75
HP:0040214HP:0040216Hypoinsulinemia1BLK CL E G H6401057ORPHA:552MODYHP:0040282 - Frequent75
HP:0040214HP:0000842Hyperinsulinemia1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0040214HP:0000842Hyperinsulinemia1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0040214HP:0000842Hyperinsulinemia1BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040281 - Very frequent105
HP:0040214HP:0000842Hyperinsulinemia1CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent23
HP:0040214HP:0000842Hyperinsulinemia1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0040214HP:0000842Hyperinsulinemia1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0040214HP:0000842Hyperinsulinemia1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0040214HP:0000842Hyperinsulinemia1CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent147
HP:0040214HP:0000842Hyperinsulinemia1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0040214HP:0040216Hypoinsulinemia1CEL CL E G H10561848ORPHA:552MODYHP:0040282 - Frequent25
HP:0040214HP:0000842Hyperinsulinemia1CEL CL E G H10561848ORPHA:552MODY25
HP:0040214HP:0000842Hyperinsulinemia1CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent71
HP:0040214HP:0000842Hyperinsulinemia1CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0040214HP:0000842Hyperinsulinemia1CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent60
HP:0040214HP:0000842Hyperinsulinemia1CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent44
HP:0040214HP:0000842Hyperinsulinemia1CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent164
HP:0040214HP:0000842Hyperinsulinemia1CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0040214HP:0000842Hyperinsulinemia1CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent156
HP:0040214HP:0000842Hyperinsulinemia1CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent158
HP:0040214HP:0000842Hyperinsulinemia1DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040284 - Very rare80
HP:0040214HP:0000842Hyperinsulinemia1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0040214HP:0000842Hyperinsulinemia1DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent47
HP:0040214HP:0000842Hyperinsulinemia1DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0040214HP:0000842Hyperinsulinemia1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040282 - Frequent164
HP:0040214HP:0040216Hypoinsulinemia1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040283 - Occasional3
HP:0040214HP:0000842Hyperinsulinemia1ESR1 CL E G H20993467OMIM:615363Estrogen resistance.13
HP:0040214HP:0000842Hyperinsulinemia1ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040282 - Frequent13
HP:0040214HP:0000842Hyperinsulinemia1EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent209
HP:0040214HP:0000842Hyperinsulinemia1FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent56
HP:0040214HP:0000842Hyperinsulinemia1FOCAD CL E G H5491423377OMIM:6199913
HP:0040214HP:0000842Hyperinsulinemia1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0040214HP:0000842Hyperinsulinemia1FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent26
HP:0040214HP:0000842Hyperinsulinemia1GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0040214HP:0000842Hyperinsulinemia1GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3237
HP:0040214HP:0000842Hyperinsulinemia1GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0040214HP:0000842Hyperinsulinemia1GCK CL E G H26454195ORPHA:552MODY237
HP:0040214HP:0040216Hypoinsulinemia1GCK CL E G H26454195ORPHA:552MODYHP:0040282 - Frequent237
HP:0040214HP:0000842Hyperinsulinemia1GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0040214HP:0000842Hyperinsulinemia1GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0040214HP:0000842Hyperinsulinemia1GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent36
HP:0040214HP:0000842Hyperinsulinemia1HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 441
HP:0040214HP:0000842Hyperinsulinemia1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0040214HP:0000842Hyperinsulinemia1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome.38
HP:0040214HP:0000842Hyperinsulinemia1HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent86
HP:0040214HP:0000842Hyperinsulinemia1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0040214HP:0000842Hyperinsulinemia1HNF1A CL E G H692711621ORPHA:552MODY161
HP:0040214HP:0040216Hypoinsulinemia1HNF1A CL E G H692711621ORPHA:552MODYHP:0040282 - Frequent161
HP:0040214HP:0000842Hyperinsulinemia1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0040214HP:0000842Hyperinsulinemia1HNF4A CL E G H31725024ORPHA:552MODY138
HP:0040214HP:0040216Hypoinsulinemia1HNF4A CL E G H31725024ORPHA:552MODYHP:0040282 - Frequent138
HP:0040214HP:0040216Hypoinsulinemia1HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040281 - Very frequent
HP:0040214HP:0000842Hyperinsulinemia1IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0040214HP:0000842Hyperinsulinemia1IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent30
HP:0040214HP:0000842Hyperinsulinemia1IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent148
HP:0040214HP:0000842Hyperinsulinemia1IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0040214HP:0000842Hyperinsulinemia1IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0040214HP:0000842Hyperinsulinemia1IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent52
HP:0040214HP:0000842Hyperinsulinemia1IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent4
HP:0040214HP:0000842Hyperinsulinemia1IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent120
HP:0040214HP:0000842Hyperinsulinemia1INS CL E G H36306081OMIM:616214HyperproinsulinemiaHP:0040283 - Occasional62
HP:0040214HP:0040216Hypoinsulinemia1INS CL E G H36306081ORPHA:552MODYHP:0040282 - Frequent62
HP:0040214HP:0000842Hyperinsulinemia1INS CL E G H36306081ORPHA:552MODY62
HP:0040214HP:0000842Hyperinsulinemia1INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0040214HP:0034384Elevated circulating insulin:C-peptide ratio1INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5229
HP:0040214HP:0000842Hyperinsulinemia1INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5229
HP:0040214HP:0000842Hyperinsulinemia1INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiency229
HP:0040214HP:0000842Hyperinsulinemia1INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0040214HP:0000842Hyperinsulinemia1INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0040214HP:0000842Hyperinsulinemia1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0040214HP:0000842Hyperinsulinemia1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome.
HP:0040214HP:0000842Hyperinsulinemia1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040281 - Very frequent127
HP:0040214HP:0000842Hyperinsulinemia1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0040214HP:0000842Hyperinsulinemia1KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2127
HP:0040214HP:0040216Hypoinsulinemia1KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040282 - Frequent127
HP:0040214HP:0000842Hyperinsulinemia1KCNJ11 CL E G H37676257ORPHA:552MODY127
HP:0040214HP:0040216Hypoinsulinemia1KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040281 - Very frequent127
HP:0040214HP:0000842Hyperinsulinemia1KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0040214HP:0000842Hyperinsulinemia1KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent3
HP:0040214HP:0040216Hypoinsulinemia1KLF11 CL E G H846211811ORPHA:552MODYHP:0040282 - Frequent78
HP:0040214HP:0000842Hyperinsulinemia1KLF11 CL E G H846211811ORPHA:552MODY78
HP:0040214HP:0000842Hyperinsulinemia1KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent42
HP:0040214HP:0000842Hyperinsulinemia1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040281 - Very frequent47
HP:0040214HP:0000842Hyperinsulinemia1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040281 - Very frequent46
HP:0040214HP:0000842Hyperinsulinemia1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0040214HP:0000842Hyperinsulinemia1LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040281 - Very frequent645
HP:0040214HP:0000842Hyperinsulinemia1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0040214HP:0000842Hyperinsulinemia1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0040214HP:0000842Hyperinsulinemia1LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent62
HP:0040214HP:0000842Hyperinsulinemia1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0040214HP:0000842Hyperinsulinemia1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome.63
HP:0040214HP:0000842Hyperinsulinemia1MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent53
HP:0040214HP:0000842Hyperinsulinemia1MC4R CL E G H41606932OMIM:618406BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ2054
HP:0040214HP:0000842Hyperinsulinemia1MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiencyHP:0040283 - Occasional54
HP:0040214HP:0000842Hyperinsulinemia1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0040214HP:0000842Hyperinsulinemia1MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent75
HP:0040214HP:0000842Hyperinsulinemia1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome.5
HP:0040214HP:0000842Hyperinsulinemia1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome.
HP:0040214HP:0000842Hyperinsulinemia1MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0040214HP:0000842Hyperinsulinemia1MPI CL E G H43517216ORPHA:79319MPI-CDG51
HP:0040214HP:0040216Hypoinsulinemia1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0040214HP:0000842Hyperinsulinemia1NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent5
HP:0040214HP:0040216Hypoinsulinemia1NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040282 - Frequent32
HP:0040214HP:0000842Hyperinsulinemia1NEUROD1 CL E G H47607762ORPHA:552MODY32
HP:0040214HP:0000842Hyperinsulinemia1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome.1
HP:0040214HP:0000842Hyperinsulinemia1NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent58
HP:0040214HP:0000842Hyperinsulinemia1NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent30
HP:0040214HP:0000842Hyperinsulinemia1OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent201
HP:0040214HP:0000842Hyperinsulinemia1PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0040214HP:0040216Hypoinsulinemia1PAX4 CL E G H50788618ORPHA:552MODYHP:0040282 - Frequent55
HP:0040214HP:0000842Hyperinsulinemia1PAX4 CL E G H50788618ORPHA:552MODY55
HP:0040214HP:0000842Hyperinsulinemia1PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0040214HP:0000842Hyperinsulinemia1PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0040214HP:0000842Hyperinsulinemia1PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent116
HP:0040214HP:0000842Hyperinsulinemia1PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent126
HP:0040214HP:0000842Hyperinsulinemia1PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent18
HP:0040214HP:0040216Hypoinsulinemia1PDX1 CL E G H36516107ORPHA:552MODYHP:0040282 - Frequent30
HP:0040214HP:0000842Hyperinsulinemia1PDX1 CL E G H36516107ORPHA:552MODY30
HP:0040214HP:0040216Hypoinsulinemia1PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040281 - Very frequent
HP:0040214HP:0000842Hyperinsulinemia1PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040280 - Obligate19
HP:0040214HP:0000842Hyperinsulinemia1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0040214HP:0000842Hyperinsulinemia1POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0040214HP:0000842Hyperinsulinemia1POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent180
HP:0040214HP:0000842Hyperinsulinemia1PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0040214HP:0000842Hyperinsulinemia1PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0040214HP:0000842Hyperinsulinemia1PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent39
HP:0040214HP:0000842Hyperinsulinemia1PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent110
HP:0040214HP:0000842Hyperinsulinemia1PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent28
HP:0040214HP:0000842Hyperinsulinemia1PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent70
HP:0040214HP:0000842Hyperinsulinemia1PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent2
HP:0040214HP:0000842Hyperinsulinemia1PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent51
HP:0040214HP:0000842Hyperinsulinemia1PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent94
HP:0040214HP:0000842Hyperinsulinemia1PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent159
HP:0040214HP:0000842Hyperinsulinemia1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome.
HP:0040214HP:0000842Hyperinsulinemia1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome.
HP:0040214HP:0000842Hyperinsulinemia1RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent108
HP:0040214HP:0000842Hyperinsulinemia1RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent45
HP:0040214HP:0000842Hyperinsulinemia1REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent5
HP:0040214HP:0000842Hyperinsulinemia1RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent28
HP:0040214HP:0000842Hyperinsulinemia1RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent107
HP:0040214HP:0000842Hyperinsulinemia1RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent47
HP:0040214HP:0040216Hypoinsulinemia1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0040214HP:0000842Hyperinsulinemia1ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent38
HP:0040214HP:0000842Hyperinsulinemia1RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent111
HP:0040214HP:0000842Hyperinsulinemia1RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent284
HP:0040214HP:0000842Hyperinsulinemia1RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent45
HP:0040214HP:0000842Hyperinsulinemia1RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent14
HP:0040214HP:0000842Hyperinsulinemia1RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent129
HP:0040214HP:0000842Hyperinsulinemia1RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent200
HP:0040214HP:0000842Hyperinsulinemia1SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent32
HP:0040214HP:0000842Hyperinsulinemia1SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent
HP:0040214HP:0000842Hyperinsulinemia1SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0040214HP:0000842Hyperinsulinemia1SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyHP:0040281 - Very frequent
HP:0040214HP:0000842Hyperinsulinemia1SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040281 - Very frequent40
HP:0040214HP:0000842Hyperinsulinemia1SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0040214HP:0000842Hyperinsulinemia1SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent4
HP:0040214HP:0000842Hyperinsulinemia1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome.
HP:0040214HP:0000842Hyperinsulinemia1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome.
HP:0040214HP:0000842Hyperinsulinemia1SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent83
HP:0040214HP:0000842Hyperinsulinemia1SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent48
HP:0040214HP:0040216Hypoinsulinemia1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0040214HP:0000842Hyperinsulinemia1TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent61
HP:0040214HP:0000842Hyperinsulinemia1TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 17
HP:0040214HP:0000842Hyperinsulinemia1TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent41
HP:0040214HP:0000842Hyperinsulinemia1TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent1
HP:0040214HP:0000842Hyperinsulinemia1TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent66
HP:0040214HP:0000842Hyperinsulinemia1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0040214HP:0000842Hyperinsulinemia1USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent777
HP:0040214HP:0000842Hyperinsulinemia1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7
HP:0040214HP:0040216Hypoinsulinemia1ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040281 - Very frequent30
HP:0040214HP:0000842Hyperinsulinemia1ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0040214HP:0000842Hyperinsulinemia1ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent14
HP:0040214HP:0000842Hyperinsulinemia1ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040282 - Frequent27
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040281 - Very frequent245
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1.245
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2ABCC8 CL E G H683359ORPHA:552MODYHP:0040283 - Occasional245
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2APPL1 CL E G H2606024035ORPHA:552MODYHP:0040283 - Occasional2
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2BLK CL E G H6401057ORPHA:552MODYHP:0040283 - Occasional75
HP:0040214HP:0008283Fasting hyperinsulinemia2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2CEL CL E G H10561848ORPHA:552MODYHP:0040283 - Occasional25
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2FOCAD CL E G H5491423377OMIM:6199913
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3.237
HP:0040214HP:0008283Fasting hyperinsulinemia2GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040281 - Very frequent237
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040281 - Very frequent237
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2GCK CL E G H26454195ORPHA:552MODYHP:0040283 - Occasional237
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 6.56
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0040214HP:0008283Fasting hyperinsulinemia2GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 4.41
HP:0040214HP:0008283Fasting hyperinsulinemia2HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040281 - Very frequent161
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2HNF1A CL E G H692711621ORPHA:552MODYHP:0040283 - Occasional161
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2HNF4A CL E G H31725024ORPHA:552MODYHP:0040283 - Occasional138
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2INS CL E G H36306081ORPHA:552MODYHP:0040283 - Occasional62
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5.229
HP:0040214HP:0008283Fasting hyperinsulinemia2INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5.229
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiencyHP:0040280 - Obligate229
HP:0040214HP:0008283Fasting hyperinsulinemia2INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiencyHP:0040281 - Very frequent229
HP:0040214HP:0008283Fasting hyperinsulinemia2INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040281 - Very frequent127
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2.127
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040283 - Occasional127
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2KLF11 CL E G H846211811ORPHA:552MODYHP:0040283 - Occasional78
HP:0040214HP:0008283Fasting hyperinsulinemia2LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus.
HP:0040214HP:0008283Fasting hyperinsulinemia2MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2MPI CL E G H43517216ORPHA:79319MPI-CDGHP:0040282 - Frequent51
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040283 - Occasional32
HP:0040214HP:0008283Fasting hyperinsulinemia2PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2PAX4 CL E G H50788618ORPHA:552MODYHP:0040283 - Occasional55
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2PDX1 CL E G H36516107ORPHA:552MODYHP:0040283 - Occasional30
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 1HP:0040283 - Occasional7
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040281 - Very frequent15
HP:0040214HP:0000825Hyperinsulinemic hypoglycemia2YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7
HP:0040214HP:0008283Fasting hyperinsulinemia2YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7


Genes (154) :ABCA4 ABCC8 ADCY3 AGBL5 AGPAT2 AHI1 AHR AKT2 ALMS1 APPL1 ARHGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 BLK BSCL2 CA4 CAV1 CAVIN1 CDHR1 CDKN1B CEL CERKL CFAP418 CLRN1 CNGA1 CNGB1 CPE CRB1 CRX DBH DCAF17 DHDDS DHX38 DIS3L2 DMXL2 ESR1 EYS FAM161A FOCAD FOS FSCN2 GALK1 GCK GLUD1 GUCA1B HADH HERC2 HGSNAT HNF1A HNF4A HYMAI IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 INS INSR IPW KCNJ11 KIAA1549 KIZ KLF11 KLHL7 LEP LEPR LMNA LRAT MAFA MAGEL2 MAK MC4R MEN1 MERTK MKRN3 MKRN3-AS1 MPI NAB2 NEK2 NEUROD1 NPAP1 NR2E3 NRL OFD1 PAPPA2 PAX4 PCARE PCSK1 PDE6A PDE6B PDE6G PDX1 PLAGL1 PLIN1 PMM2 POMC POMGNT1 PPARG PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PWAR1 PWRN1 RBP3 RDH12 REEP6 RGR RHO RLBP1 RNF125 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SECISBP2 SEMA4A SH2B1 SIM1 SLC16A1 SLC7A14 SNORD115-1 SNORD116-1 SNRNP200 SPATA7 STAT6 TOPORS TRMT10A TTC8 TUB TULP1 UCP2 USH2A YY1 ZFP57 ZMPSTE24 ZNF408 ZNF513

Diseases (71) :ORPHA:791 ORPHA:276575 OMIM:256450 OMIM:240800 ORPHA:552 ORPHA:99886 OMIM:617885 ORPHA:528 OMIM:608594 ORPHA:293964 ORPHA:64 OMIM:203800 OMIM:269700 ORPHA:363400 OMIM:613327 ORPHA:276152 OMIM:619326 ORPHA:230 ORPHA:3464 ORPHA:2849 ORPHA:453533 OMIM:615363 ORPHA:785 OMIM:619991 ORPHA:79237 OMIM:602485 ORPHA:79299 OMIM:606762 ORPHA:35878 OMIM:609975 ORPHA:71212 OMIM:176270 ORPHA:324575 ORPHA:263455 OMIM:616214 OMIM:246200 OMIM:609968 ORPHA:263458 ORPHA:508 OMIM:262190 ORPHA:769 ORPHA:276580 ORPHA:79644 OMIM:601820 ORPHA:66628 ORPHA:179494 ORPHA:79474 ORPHA:79084 OMIM:151660 OMIM:248370 OMIM:147630 OMIM:618406 ORPHA:71529 ORPHA:97279 OMIM:602579 ORPHA:79319 ORPHA:2126 OMIM:619489 ORPHA:71528 ORPHA:280356 ORPHA:79318 ORPHA:71526 OMIM:604367 OMIM:616260 ORPHA:171706 ORPHA:329249 ORPHA:369873 OMIM:610021 OMIM:616033 ORPHA:276556 OMIM:608612
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.