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:0000643 | HP:0000643 | Blepharospasm | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | . | | | | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040282 - Frequent | | | 17 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | HP:0040283 - Occasional | | | 17 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040283 - Occasional | | | 16 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | HP:0040283 - Occasional | | | 449 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040283 - Occasional | | | 115 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | DRD5 CL E G H | 1816 | 3026 | OMIM:606798 | Blepharospasm, benign essential, susceptibility to | . | | | 3 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | HPCA CL E G H | 3208 | 5144 | OMIM:224500 | Dystonia 2, torsion, autosomal recessive | . | | | 4 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | HP:0040282 - Frequent | | | 4 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | . | | | 1 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | . | | | | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040282 - Frequent | | | 21 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 271 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | THAP1 CL E G H | 55145 | 20856 | ORPHA:98806 | Primary dystonia, DYT6 type | HP:0040283 - Occasional | | | 42 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | HP:0040283 - Occasional | | | 66 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000643 | HP:0000643 | Blepharospasm | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |