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:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040283 - Occasional | | | 3179 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040284 - Very rare | | | | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | DDHD2 CL E G H | 23259 | 29106 | ORPHA:320380 | Autosomal recessive spastic paraplegia type 54 | HP:0040282 - Frequent | | | 29 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:137902 | Isolated optic nerve hypoplasia/aplasia | HP:0040281 - Very frequent | | | 194 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | . | | | 94 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040282 - Frequent | | | 80 | | |
HP:0007766 | HP:0007766 | Optic disc hypoplasia | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | HP:0040284 - Very rare | | | 12 | | |