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:0011003 | HP:0011003 | High myopia | 0 | ADAMTS10 CL E G H | 81794 | 13201 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | HP:0040283 - Occasional | | | 84 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ARR3 CL E G H | 407 | 710 | OMIM:301010 | MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26 | | | | 1 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:614284 | Stickler syndrome, type V | . | | | 110 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:620022 | | | | | 137 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | CPSF1 CL E G H | 29894 | 2324 | OMIM:618827 | MYOPIA 27, AUTOSOMAL DOMINANT; MYP27 | | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | . | | | 4 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 101 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040283 - Occasional | | | 108 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 54 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | HP:0040283 - Occasional | | | 62 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | . | | | 12 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | HP:0040283 - Occasional | | | 145 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | LOXL3 CL E G H | 84695 | 13869 | OMIM:619781 | MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28 | | | | 4 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | LRPAP1 CL E G H | 4043 | 6701 | OMIM:615431 | Myopia 23, autosomal recessive | | | | 4 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | | | | 21 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040283 - Occasional | | | 47 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0011003 | HP:0011003 | High myopia | 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:0011003 | HP:0011003 | High myopia | 0 | NYX CL E G H | 60506 | 8082 | OMIM:310500 | Night blindness, congenital stationary, type 1A | . | | | 42 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | . | | | 5 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | P4HA2 CL E G H | 8974 | 8547 | OMIM:617238 | Myopia 25, autosomal dominant | . | | | 3 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | | | | 14 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040281 - Very frequent | | | 58 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | . | | | 6 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:608908 | Myopia 6 | | | | 40 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | SLC39A5 CL E G H | 283375 | 20502 | OMIM:615946 | Myopia 24, autosomal dominant | | | | 2 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | SLITRK6 CL E G H | 84189 | 23503 | OMIM:221200 | Deafness and myopia | . | | | 4 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040284 - Very rare | | | 19 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040283 - Occasional | | | 58 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | | | | 9 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040281 - Very frequent | | | 397 | | |
HP:0011003 | HP:0011003 | High myopia | 0 | ZNF644 CL E G H | 84146 | 29222 | OMIM:614167 | Myopia 21, autosomal dominant | . | | | 5 | | |