Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 114 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040282 - Frequent | | | 20 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300600 | Aland island eye disease | . | | | 58 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 342 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 156 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 158 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 64 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 124 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 148 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 52 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 61 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | KCNJ13 CL E G H | 3769 | 6259 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 42 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 62 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302200 | Cataract, congenital total, with posterior sutural opacities in heterozygotes | . | | | 88 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 15 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 11 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | RD3 CL E G H | 343035 | 19689 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 95 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 129 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:613794 | Retinitis pigmentosa 20 | . | | | 129 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 109 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 48 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID | | | | 1 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040283 - Occasional | | | 95 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | TUBB4B CL E G H | 10383 | 20771 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | USP45 CL E G H | 85015 | 20080 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | | | | 389 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0001141 | HP:0001141 | Severely reduced visual acuity | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |