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:0000501 | HP:0000501 | Glaucoma | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 826 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | HP:0040283 - Occasional | | | 49 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ADAMTS10 CL E G H | 81794 | 13201 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ADAMTS17 CL E G H | 170691 | 17109 | OMIM:613195 | Weill-Marchesani syndrome 4 | . | | | 214 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | AGK CL E G H | 55750 | 21869 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 175 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ALDH1A3 CL E G H | 220 | 409 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 10 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | . | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 6 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 29 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ASB10 CL E G H | 136371 | 17185 | OMIM:603383 | GLAUCOMA 1, OPEN ANGLE, F; GLC1F | | | | 54 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 168 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 43 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 114 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 97 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BDNF CL E G H | 627 | 1033 | ORPHA:893 | WAGR syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 182 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 182 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 23 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 8 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 147 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 71 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | . | | | 9 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 60 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 44 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 164 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | . | | | 215 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 749 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | HP:0040284 - Very rare | | | 193 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 193 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 156 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 156 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 158 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | . | | | 33 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRYBA2 CL E G H | 1412 | 2395 | OMIM:115900 | Cataract 42 | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CRYBB3 CL E G H | 1417 | 2400 | OMIM:609741 | Cataract 22, multiple types | HP:0040283 - Occasional | | | 22 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:617315 | ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 | | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98976 | Congenital glaucoma | HP:0040281 - Very frequent | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | | | | 101 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DCN CL E G H | 1634 | 2705 | OMIM:610048 | Corneal dystrophy, congenital stromal | | | | 31 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 47 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | | | | 54 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040283 - Occasional | | | 92 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 209 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 56 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FAM50A CL E G H | 9130 | 18786 | OMIM:300261 | Mental retardation syndrome, X-linked, Armfield type | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040282 - Frequent | | | 59 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2084 | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2833 | Stiff skin syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 157 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040283 - Occasional | | | 184 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 184 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | | | | 493 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | . | HP:0003621 - Juvenile onset | | 63 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:250923 | Isolated aniridia | HP:0040282 - Frequent | | | 63 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | | | | 63 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | | | | 23 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FREM2 CL E G H | 341640 | 25396 | OMIM:123570 | Cryptophthalmos, unilateral or bilateral, isolated | . | | | 263 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 26 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 68 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 74 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 12 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | | | | 143 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 34 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:624 | Familial multiple nevi flammei | HP:0040283 - Occasional | | | 7 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | | | | 7 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040283 - Occasional | | | 53 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 36 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 86 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 30 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | HP:0040283 - Occasional | | | 115 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | HP:0040283 - Occasional | | | 115 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 148 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 65 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 52 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 120 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 42 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 136 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 136 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LOXL1 CL E G H | 4016 | 6665 | OMIM:177650 | Exfoliation syndrome | . | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 62 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | | | | 125 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:98976 | Congenital glaucoma | HP:0040281 - Very frequent | | | 123 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | | | | 123 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 123 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:251750 | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | . | | | 123 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:3449 | Weill-Marchesani syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | HP:0040283 - Occasional | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 53 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 75 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MFRP CL E G H | 83552 | 18121 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 26 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98976 | Congenital glaucoma | HP:0040281 - Very frequent | | | 47 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MYOC CL E G H | 4653 | 7610 | OMIM:137750 | Glaucoma 1, open angle, A | . | | | 47 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | | | | 47 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:190 | Coats disease | HP:0040282 - Frequent | | | 39 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040282 - Frequent | | | 187 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | . | | | 187 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 58 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 30 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NTF4 CL E G H | 4909 | 8024 | OMIM:613100 | Glaucoma 1, open angle, O | | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 201 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:137760 | Glaucoma, primary open angle | | | | 62 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 41 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:604229 | Anterior segment dysgenesis 5, multiple subtypes | . | | | 194 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:250923 | Isolated aniridia | HP:0040282 - Frequent | | | 194 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | | | | 194 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:893 | WAGR syndrome | HP:0040283 - Occasional | | | 194 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 531 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 116 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 126 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 18 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 75 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 66 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 99 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:137600 | ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 | | | | 51 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | | | | 51 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 180 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 180 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 180 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 213 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 213 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 221 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 221 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 39 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 58 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 110 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 28 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 70 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 51 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 94 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 159 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:411543 | Severe phosphoribosylpyrophosphate synthetase superactivity | HP:0040284 - Very rare | | | 49 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PRSS56 CL E G H | 646960 | 39433 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 11 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040282 - Frequent | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PUS1 CL E G H | 80324 | 15508 | ORPHA:2598 | Mitochondrial myopathy and sideroblastic anemia | HP:0040282 - Frequent | | | 57 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | | | | 53 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RAX CL E G H | 30062 | 18662 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 43 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 108 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 45 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 28 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 107 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RIGI CL E G H | 23586 | 19102 | OMIM:616298 | Singleton-Merten syndrome 2 | . | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 47 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 38 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 111 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 284 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 45 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 14 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 129 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 200 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | HP:0040283 - Occasional | | | 125 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RS1 CL E G H | 6247 | 10457 | ORPHA:792 | X-linked retinoschisis | HP:0040281 - Very frequent | | | 148 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 32 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SIX6 CL E G H | 4990 | 10892 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 20 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | HP:0040283 - Occasional | | | 20 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | . | | | 89 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 4 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 83 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 33 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | | | | 23 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040284 - Very rare | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040284 - Very rare | | | 14 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TEK CL E G H | 7010 | 11724 | ORPHA:98976 | Congenital glaucoma | HP:0040281 - Very frequent | | | 78 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TEK CL E G H | 7010 | 11724 | OMIM:617272 | Glaucoma 3, primary congenital, E | . | | | 78 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TEK CL E G H | 7010 | 11724 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 78 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TIMP3 CL E G H | 7078 | 11822 | OMIM:136900 | Sorsby fundus dystrophy | . | | | 95 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TKFC CL E G H | 26007 | 24552 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TMEM98 CL E G H | 26022 | 24529 | ORPHA:35612 | Nanophthalmos | HP:0040281 - Very frequent | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TMEM98 CL E G H | 26022 | 24529 | OMIM:615972 | Nanophthalmos 4 | | | | 3 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 61 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040283 - Occasional | | | 56 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TRIM44 CL E G H | 54765 | 19016 | OMIM:617142 | Aniridia 3 | HP:0040283 - Occasional | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TRIM44 CL E G H | 54765 | 19016 | ORPHA:250923 | Isolated aniridia | HP:0040282 - Frequent | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 41 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 66 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 777 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | WDR36 CL E G H | 134430 | 30696 | OMIM:609887 | Glaucoma 1, open angle, G | | | | 124 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040282 - Frequent | | | 389 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | HP:0040283 - Occasional | | | 389 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:893 | WAGR syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | HP:0040283 - Occasional | | | 2 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | YARS2 CL E G H | 51067 | 24249 | ORPHA:2598 | Mitochondrial myopathy and sideroblastic anemia | HP:0040282 - Frequent | | | 45 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 14 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 397 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 27 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | HP:0040283 - Occasional | | | 5 | | |
HP:0000501 | HP:0000501 | Glaucoma | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040284 - Very rare | | | 5 | | |
HP:0000501 | HP:0032119 | Narrow angle glaucoma | 1 | CL E G H | | | | | | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | ASB10 CL E G H | 136371 | 17185 | OMIM:603383 | GLAUCOMA 1, OPEN ANGLE, F; GLC1F | | | | 54 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000501 | HP:0012109 | Angle closure glaucoma | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0000501 | HP:0012109 | Angle closure glaucoma | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:618880 | GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC | | | | 177 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:617315 | ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 | | | | 101 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | | | | 101 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 101 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 101 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 101 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | | | | 108 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 54 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 17 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 175 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040283 - Occasional | | | 493 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 63 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 23 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | | | | 3 | | |
HP:0000501 | HP:0012109 | Angle closure glaucoma | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 29 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | . | | | 143 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | | | | 7 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000501 | HP:0012109 | Angle closure glaucoma | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | | | | 123 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | LTBP2 CL E G H | 4053 | 6715 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 123 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | MAFA CL E G H | 389692 | 23145 | OMIM:147630 | Insulinomatosis and diabetes mellitus | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040282 - Frequent | | | 47 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | | | | 2 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0000501 | HP:0012109 | Angle closure glaucoma | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | NTF4 CL E G H | 4909 | 8024 | OMIM:613100 | Glaucoma 1, open angle, O | . | | | 4 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | OPTN CL E G H | 10133 | 17142 | OMIM:137760 | Glaucoma, primary open angle | . | | | 62 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 194 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | HP:0040282 - Frequent | | | 51 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | | | | 22 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | . | | | 53 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 11 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 40 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 26 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 5 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 42 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 22 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 3 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 20 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | TEK CL E G H | 7010 | 11724 | OMIM:600975 | Glaucoma 3, primary infantile, B | | | | 78 | | |
HP:0000501 | HP:0012109 | Angle closure glaucoma | 1 | TMEM98 CL E G H | 26022 | 24529 | OMIM:615972 | Nanophthalmos 4 | | | | 3 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040284 - Very rare | | | 1 | | |
HP:0000501 | HP:0001087 | Developmental glaucoma | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0000501 | HP:0012108 | Open angle glaucoma | 1 | WDR36 CL E G H | 134430 | 30696 | OMIM:609887 | Glaucoma 1, open angle, G | . | | | 124 | | |
HP:0000501 | HP:0008007 | Primary congenital glaucoma | 2 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | | | 4 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | . | | | 101 | | |
HP:0000501 | HP:0008041 | Late onset congenital glaucoma | 2 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:231300 | Glaucoma 3, primary congenital, A | . | | | 101 | | |
HP:0000501 | HP:0008007 | Primary congenital glaucoma | 2 | CYP1B1 CL E G H | 1545 | 2597 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 101 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040283 - Occasional | | | 108 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | . | | | 7 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000501 | HP:0008007 | Primary congenital glaucoma | 2 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000501 | HP:0008007 | Primary congenital glaucoma | 2 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | . | | | 123 | | |
HP:0000501 | HP:0008007 | Primary congenital glaucoma | 2 | LTBP2 CL E G H | 4053 | 6715 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 123 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | | | | 39 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | PXDN CL E G H | 7837 | 14966 | OMIM:269400 | Corneal opacification with other ocular anomalies | HP:0040283 - Occasional | | | 22 | | |
HP:0000501 | HP:0008007 | Primary congenital glaucoma | 2 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000501 | HP:0008007 | Primary congenital glaucoma | 2 | TEK CL E G H | 7010 | 11724 | OMIM:600975 | Glaucoma 3, primary infantile, B | . | | | 78 | | |
HP:0000501 | HP:0000557 | Buphthalmos | 2 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |