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:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040283 - Occasional | | | 35 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040282 - Frequent | | | 4 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | HP:0040283 - Occasional | | | 276 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040282 - Frequent | | | 60 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0100275 | HP:0100275 | Diffuse cerebellar atrophy | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |