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:0002371 | HP:0002371 | Loss of speech | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | . | | | 116 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040282 - Frequent | | | 114 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | . | | | 253 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 253 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040283 - Occasional | | | 253 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | . | | | 105 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040282 - Frequent | | | 18 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040284 - Very rare | | | 160 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040282 - Frequent | | | 69 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040281 - Very frequent | | | 434 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040284 - Very rare | | | 136 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | . | | | | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | NPC1 CL E G H | 4864 | 7897 | OMIM:257220 | Niemann-pick disease, type C1 | . | | | 258 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | . | | | 33 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 81 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040283 - Occasional | | | 81 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | HP:0040282 - Frequent | | | 171 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | HP:0040283 - Occasional | | | 21 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002371 | HP:0002371 | Loss of speech | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |