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:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040280 - Obligate | | | 101 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040280 - Obligate | | | 101 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040280 - Obligate | | | 101 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 101 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | GNAS-AS1 CL E G H | 149775 | 24872 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 1 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040280 - Obligate | | | 113 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040280 - Obligate | | | 134 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040280 - Obligate | | | 86 | | |
HP:0000852 | HP:0000852 | Pseudohypoparathyroidism | 0 | STX16 CL E G H | 8675 | 11431 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 86 | | |