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:0007305 | HP:0007305 | CNS demyelination | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040281 - Very frequent | | | 135 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ASPA CL E G H | 443 | 756 | OMIM:271900 | Canavan disease | | | | 48 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 2 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | | | | 34 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | | | | 34 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | MAT1A CL E G H | 4143 | 6903 | OMIM:250850 | METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY | . | | | 82 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | MTTP CL E G H | 4547 | 7467 | OMIM:200100 | ABETALIPOPROTEINEMIA | . | | | 81 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | | | | 50 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 1 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | . | | | 52 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | | | | 7 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | | | | 49 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | | | | 49 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611721 | Combined saposin deficiency | . | | | 81 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | | | | 11 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | TNR CL E G H | 7143 | 11953 | OMIM:619653 | NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO | | | | 7 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0007305 | HP:0007305 | CNS demyelination | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0007305 | HP:0007162 | Diffuse demyelination of the cerebral white matter | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040281 - Very frequent | | | 135 | | |
HP:0007305 | HP:0007162 | Diffuse demyelination of the cerebral white matter | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0007305 | HP:0008311 | Spinal cord posterior columns myelin loss | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0007305 | HP:0002545 | Patchy demyelination of subcortical white matter | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040281 - Very frequent | | | 20 | | |
HP:0007305 | HP:0002545 | Patchy demyelination of subcortical white matter | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040281 - Very frequent | | | 199 | | |
HP:0007305 | HP:0002545 | Patchy demyelination of subcortical white matter | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0007305 | HP:0002545 | Patchy demyelination of subcortical white matter | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0007305 | HP:0002545 | Patchy demyelination of subcortical white matter | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040281 - Very frequent | | | 55 | | |
HP:0007305 | HP:0007162 | Diffuse demyelination of the cerebral white matter | 1 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | . | | | 188 | | |
HP:0007305 | HP:0007162 | Diffuse demyelination of the cerebral white matter | 1 | HTRA1 CL E G H | 5654 | 9476 | OMIM:600142 | Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) | . | | | 34 | | |
HP:0007305 | HP:0007258 | Severe demyelination of the white matter | 1 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0007305 | HP:0007258 | Severe demyelination of the white matter | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040284 - Very rare | | | 101 | | |
HP:0007305 | HP:0007258 | Severe demyelination of the white matter | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007305 | HP:0007258 | Severe demyelination of the white matter | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0007305 | HP:0008311 | Spinal cord posterior columns myelin loss | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:301835 | Arts syndrome | . | | | 49 | | |
HP:0007305 | HP:0008311 | Spinal cord posterior columns myelin loss | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040282 - Frequent | | | 49 | | |
HP:0007305 | HP:0007258 | Severe demyelination of the white matter | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040281 - Very frequent | | | 49 | | |
HP:0007305 | HP:0007258 | Severe demyelination of the white matter | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0007305 | HP:0007258 | Severe demyelination of the white matter | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |