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:0012704 | HP:0012704 | Widened subarachnoid space | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040283 - Occasional | | | 31 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 227 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 115 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040283 - Occasional | | | 88 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 6 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | | | | 48 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0012704 | HP:0012704 | Widened subarachnoid space | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012765 | Widened cerebellar subarachnoid space | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0012704 | HP:0012765 | Widened cerebellar subarachnoid space | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012704 | HP:0012765 | Widened cerebellar subarachnoid space | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0012704 | HP:0012765 | Widened cerebellar subarachnoid space | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0012704 | HP:0012765 | Widened cerebellar subarachnoid space | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0012704 | HP:0012765 | Widened cerebellar subarachnoid space | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |
HP:0012704 | HP:0012766 | Widened cerebral subarachnoid space | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |