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:0000647 | HP:0000647 | Sclerocornea | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040283 - Occasional | | | 38 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | . | | | 23 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:83461 | Congenital primary aphakia | HP:0040282 - Frequent | | | 23 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 11 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | . | | | 2 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | | | | 8 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 3 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | HP:0040283 - Occasional | | | 58 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | . | | | 22 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | RAX CL E G H | 30062 | 18662 | OMIM:611038 | Microphthalmia, isolated 3 | . | | | 43 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040282 - Frequent | | | | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000647 | HP:0000647 | Sclerocornea | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |