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:0002442 | HP:0002442 | Dyscalculia | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 56 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 11 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | CYLD CL E G H | 1540 | 2584 | OMIM:619132 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8; FTDALS8 | | | | 126 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040283 - Occasional | | | 30 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 105 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 5 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | HP:0040283 - Occasional | | | 244 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 62 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:1772 | 45,X/46,XY mixed gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 65 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 20 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 63 | | |
HP:0002442 | HP:0002442 | Dyscalculia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |