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:0003777 | HP:0003777 | Pili torti | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:262000 | Bjornstad syndrome | . | | | 72 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040282 - Frequent | | | 87 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:601553 | Hypotrichosis, congenital, with juvenile macular dystrophy | | | | 87 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | . | | | 2 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0003777 | HP:0003777 | Pili torti | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |