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:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | | | | 93 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | PHOX2A CL E G H | 401 | 691 | OMIM:602078 | Fibrosis of extraocular muscles, congenital, 2 | | | | 6 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | | | | 39 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | | | | 64 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0008049 | HP:0008049 | Abnormality of the extraocular muscles | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0008049 | HP:0007886 | Absent extraocular muscles | 1 | CL E G H | | | | | | | | | | |
HP:0008049 | HP:0007647 | Congenital extraocular muscle anomaly | 1 | CL E G H | | | | | | | | | | |
HP:0008049 | HP:3000069 | Abnormality of lateral rectus extra-ocular muscle | 1 | CL E G H | | | | | | | | | | |
HP:0008049 | HP:3000058 | Abnormality of inferior rectus extraocular muscle | 1 | CL E G H | | | | | | | | | | |
HP:0008049 | HP:3000057 | Abnormality of inferior oblique extraocular muscle | 1 | CL E G H | | | | | | | | | | |
HP:0008049 | HP:0001491 | Congenital fibrosis of extraocular muscles | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0008049 | HP:0012242 | Superior rectus atrophy | 1 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | . | | | 93 | | |
HP:0008049 | HP:0001491 | Congenital fibrosis of extraocular muscles | 1 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | . | | | 93 | | |
HP:0008049 | HP:3000072 | Abnormal levator palpebrae superioris morphology | 1 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | | | | 93 | | |
HP:0008049 | HP:0001491 | Congenital fibrosis of extraocular muscles | 1 | PHOX2A CL E G H | 401 | 691 | OMIM:602078 | Fibrosis of extraocular muscles, congenital, 2 | . | | | 6 | | |
HP:0008049 | HP:0001491 | Congenital fibrosis of extraocular muscles | 1 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | HP:0040283 - Occasional | | | 39 | | |
HP:0008049 | HP:0001491 | Congenital fibrosis of extraocular muscles | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0008049 | HP:0012242 | Superior rectus atrophy | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | . | | | 64 | | |
HP:0008049 | HP:0001491 | Congenital fibrosis of extraocular muscles | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | . | | | 64 | | |
HP:0008049 | HP:3000072 | Abnormal levator palpebrae superioris morphology | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | | | | 64 | | |
HP:0008049 | HP:0001491 | Congenital fibrosis of extraocular muscles | 1 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0008049 | HP:0012241 | Levator palpebrae superioris atrophy | 2 | KIF21A CL E G H | 55605 | 19349 | OMIM:135700 | Fibrosis of extraocular muscles, congenital, 1 | . | | | 93 | | |
HP:0008049 | HP:0012241 | Levator palpebrae superioris atrophy | 2 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | . | | | 64 | | |