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:0007973 | HP:0007973 | Retinal dysplasia | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040283 - Occasional | | | 184 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | HP:0040283 - Occasional | | | 184 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 184 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040283 - Occasional | | | 233 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:83461 | Congenital primary aphakia | HP:0040282 - Frequent | | | 23 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | HP:0040283 - Occasional | | | 111 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | . | | | 136 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 136 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | | | 39 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 180 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:614830 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | . | | | 33 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 213 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 221 | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | RXYLT1 CL E G H | 10329 | 13530 | OMIM:615041 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10 | . | | | | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007973 | HP:0007973 | Retinal dysplasia | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | HP:0040283 - Occasional | | | 14 | | |