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:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | | | | 95 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | | | | 95 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | | | | 351 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | | | | 50 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GHR CL E G H | 2690 | 4263 | OMIM:604271 | Growth hormone insensitivity, partial | | | | 98 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | | | | 98 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:314802 | Short stature due to partial GHR deficiency | | | | 98 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GHSR CL E G H | 2693 | 4267 | ORPHA:314811 | Short stature due to GHSR deficiency | | | | 37 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | | | | 91 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | IGFALS CL E G H | 3483 | 5468 | OMIM:615961 | ACID-LABILE SUBUNIT DEFICIENCY; ACLSD | | | | 53 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | IGFALS CL E G H | 3483 | 5468 | ORPHA:140941 | Short stature due to primary acid-labile subunit deficiency | | | | 53 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | | | | 462 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | | | | 164 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0030352 | HP:0030352 | Abnormal serum insulin-like growth factor 1 level | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:618985 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2 | | | | 12 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0030352 | HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | 1 | AIP CL E G H | 9049 | 358 | OMIM:102200 | Pituitary adenoma, growth hormone-secreting, 1 | . | | | 95 | | |
HP:0030352 | HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | 1 | AIP CL E G H | 9049 | 358 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 95 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | | | | 50 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | GHR CL E G H | 2690 | 4263 | OMIM:604271 | Growth hormone insensitivity, partial | | | | 98 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | | | | 98 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | GHR CL E G H | 2690 | 4263 | ORPHA:314802 | Short stature due to partial GHR deficiency | HP:0040281 - Very frequent | | | 98 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | GHSR CL E G H | 2693 | 4267 | ORPHA:314811 | Short stature due to GHSR deficiency | HP:0040281 - Very frequent | | | 37 | | |
HP:0030352 | HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | 1 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | IGF1 CL E G H | 3479 | 5464 | OMIM:608747 | Insulin-Like growth factor I deficiency | | | | 91 | | |
HP:0030352 | HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | IGFALS CL E G H | 3483 | 5468 | OMIM:615961 | ACID-LABILE SUBUNIT DEFICIENCY; ACLSD | | | | 53 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | IGFALS CL E G H | 3483 | 5468 | ORPHA:140941 | Short stature due to primary acid-labile subunit deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0030352 | HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99725 | Pituitary gigantism | HP:0040281 - Very frequent | | | 462 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0030352 | HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0030352 | HP:0030269 | Increased circulating insulin-like growth factor 1 concentration | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040283 - Occasional | | | 164 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040281 - Very frequent | | | 24 | | |
HP:0030352 | HP:0030353 | Decreased serum insulin-like growth factor 1 | 1 | STAT5B CL E G H | 6777 | 11367 | OMIM:618985 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2 | | | | 12 | | |