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:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | | | | 86 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | . | | | 140 | | |
HP:0000197 | HP:0000197 | Abnormal parotid gland morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0000197 | HP:0011801 | Enlargement of parotid gland | 1 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | . | | | 86 | | |
HP:0000197 | HP:0011801 | Enlargement of parotid gland | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000197 | HP:0011850 | Parotitis | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000197 | HP:0011850 | Parotitis | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0000197 | HP:0009740 | Aplasia of the parotid gland | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000197 | HP:0000198 | Absence of Stensen duct | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000197 | HP:0000198 | Absence of Stensen duct | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000197 | HP:0009740 | Aplasia of the parotid gland | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000197 | HP:0000198 | Absence of Stensen duct | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000197 | HP:0009740 | Aplasia of the parotid gland | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000197 | HP:0011801 | Enlargement of parotid gland | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000197 | HP:0011850 | Parotitis | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000197 | HP:0011850 | Parotitis | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000197 | HP:0000198 | Absence of Stensen duct | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |