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:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | | | | 2 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | | | | 2 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | | | | 17 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | | | | 37 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | | | | 8 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | | | | 96 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | | | | 1 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0012504 | HP:0012504 | Abnormal size of pituitary gland | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040281 - Very frequent | | | 276 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | HP:0040281 - Very frequent | | | 2 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | . | | | 2 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040281 - Very frequent | | | 88 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | . | | | 17 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | HP:0040283 - Occasional | | | 37 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | HP:0040283 - Occasional | | | 8 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | | | | 96 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | | | | 1 | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0012504 | HP:0012505 | Enlarged pituitary gland | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0012504 | HP:0012506 | Small pituitary gland | 1 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0012504 | HP:0410279 | Atrophic pituitary gland | 2 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040282 - Frequent | | | 96 | | |