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:0008499 | HP:0008499 | High hypermetropia | 0 | ALDH1A3 CL E G H | 220 | 409 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 10 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 182 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 636 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | 9 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 15 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | 60 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | . | | | 156 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 156 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 33 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040283 - Occasional | | | 18 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 93 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | LCA5 CL E G H | 167691 | 31923 | OMIM:604537 | Leber congenital amaurosis 5 | . | | | 70 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | MFRP CL E G H | 83552 | 18121 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 26 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 516 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 41 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 352 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | PRSS56 CL E G H | 646960 | 39433 | OMIM:613517 | Microphthalmia, isolated 6 | . | | | 11 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | PRSS56 CL E G H | 646960 | 39433 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 11 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | RAX CL E G H | 30062 | 18662 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 43 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | SIX6 CL E G H | 4990 | 10892 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 20 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040282 - Frequent | | | 504 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 33 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 44 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | TMEM98 CL E G H | 26022 | 24529 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 3 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | . | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 173 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040282 - Frequent | | | 78 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 95 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040283 - Occasional | | | 136 | | |
HP:0008499 | HP:0008499 | High hypermetropia | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0008499 | HP:0500042 | Latent hypermetropia | 1 | CL E G H | | | | | | | | | | |