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:0000528 | HP:0000528 | Anophthalmia | 0 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | | | | 10 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | . | | | 101 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040281 - Very frequent | | | 38 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 193 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | HP:0040283 - Occasional | | | 57 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 353 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:248450 | Manitoba oculotrichoanal syndrome | . | | | 198 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FREM1 CL E G H | 158326 | 23399 | ORPHA:2717 | Oculotrichoanal syndrome | HP:0040283 - Occasional | | | 198 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 263 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | . | | | 173 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040283 - Occasional | | | 31 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040283 - Occasional | | | 167 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 136 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | . | | | 5 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | NUAK2 CL E G H | 81788 | 29558 | OMIM:619452 | ANENCEPHALY 2; ANPH2 | | | | | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | . | | | 41 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 180 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 213 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 221 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | . | | | 9 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | RAX CL E G H | 30062 | 18662 | OMIM:611038 | Microphthalmia, isolated 3 | . | | | 43 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:616428 | Microphthalmia, isolated, with coloboma 10 | . | | | 8 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 174 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040281 - Very frequent | | | 71 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0000528 | HP:0000528 | Anophthalmia | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000528 | HP:0011478 | True anophthalmia | 1 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | | | | 10 | | |
HP:0000528 | HP:0011478 | True anophthalmia | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040281 - Very frequent | | | 15 | | |