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:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | | | | 64 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | | | | 239 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | | | | 449 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | | | | 449 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 106 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 54 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 158 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | | | | 83 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | | | | 4 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 2 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | | | | 39 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | | | | 145 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | | | | 221 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | | | | 35 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | | | | 23 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | | | | 1 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | | | | 55 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | | | | 138 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | | | | 69 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | | | | 1 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | | | | 32 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | | | | 263 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SERPINI1 CL E G H | 5274 | 8943 | OMIM:604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | | | | 28 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | | | | 63 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | | | | 63 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:601042 | Dystonia 9 | | | | 255 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | | | | 255 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | | | | 65 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | | | | 126 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | 1 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | | | | 9 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | | | | 9 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | | | | | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | | 203 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | | | | 203 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | | | | 21 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | | | | 8 | | |
HP:0011514 | HP:0011514 | Abnormality of binocular vision | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0011514 | HP:0011515 | Abnormal stereopsis | 1 | CL E G H | | | | | | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 127 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 95 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 1 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 64 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | HP:0040282 - Frequent | | | 449 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | HP:0040282 - Frequent | | | 449 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040283 - Occasional | | | 32 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 636 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 65 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 74 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 53 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 88 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 139 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 6 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040283 - Occasional | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 91 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 106 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 54 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 158 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 83 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | HP:0040284 - Very rare | | | 4 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 2 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 39 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040282 - Frequent | | | 145 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040283 - Occasional | | | 35 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 124 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 221 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 72 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040284 - Very rare | | | 9 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 23 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 1 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 55 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 464 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 138 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | HP:0040284 - Very rare | | | 1 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 73 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | HP:0040284 - Very rare | | | 32 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040283 - Occasional | | | 263 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 263 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SERPINI1 CL E G H | 5274 | 8943 | OMIM:604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | . | | | 28 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 28 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:601042 | Dystonia 9 | . | | | 255 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | HP:0040282 - Frequent | | | 255 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 9 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 65 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 126 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | 1 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 9 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 4 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040283 - Occasional | | | 9 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | | | | 138 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 21 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 8 | | |
HP:0011514 | HP:0000651 | Diplopia | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 37 | | |