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:0100823 | HP:0100823 | Genital hernia | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | | | | 172 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | | | | 260 | | |
HP:0100823 | HP:0100823 | Genital hernia | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0100823 | HP:0100672 | Vaginal hernia | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0100823 | HP:0100672 | Vaginal hernia | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | | | | 172 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0100823 | HP:0000139 | Uterine prolapse | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0100823 | HP:0100672 | Vaginal hernia | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0100823 | HP:0100822 | Rectocele | 2 | CL E G H | | | | | | | | | | |
HP:0100823 | HP:0100821 | Urethrocele | 2 | CL E G H | | | | | | | | | | |
HP:0100823 | HP:0100645 | Cystocele | 2 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0100823 | HP:0100645 | Cystocele | 2 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0100823 | HP:0100645 | Cystocele | 2 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |