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:0000537 | HP:0000537 | Epicanthus inversus | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | COLEC10 CL E G H | 10584 | 2220 | OMIM:248340 | 3MC syndrome 3 | | | | 3 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040281 - Very frequent | | | 92 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:603736 | Ohdo syndrome, sbbys variant | . | | | 141 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614862 | Peroxisome biogenesis disorder 4A (Zellweger) | . | | | 98 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | SIX2 CL E G H | 10736 | 10888 | ORPHA:488437 | SIX2-related frontonasal dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000537 | HP:0000537 | Epicanthus inversus | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |