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:0010524 | HP:0010524 | Agnosia | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | HP:0040283 - Occasional | | | 39 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 74 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 385 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100069 | Semantic dementia | | | | 56 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100069 | Semantic dementia | | | | 42 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100069 | Semantic dementia | | | | 126 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100069 | Semantic dementia | | | | 140 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | HP:0040283 - Occasional | | | 241 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 241 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100069 | Semantic dementia | | | | 241 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 59 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 1 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040283 - Occasional | | | 48 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100069 | Semantic dementia | | | | | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 31 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040282 - Frequent | | | 31 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100069 | Semantic dementia | | | | 31 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040282 - Frequent | | | 22 | | |
HP:0010524 | HP:0010524 | Agnosia | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0010524 | HP:0010525 | Finger agnosia | 1 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0010524 | HP:0010527 | Astereognosia | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0010524 | HP:0010525 | Finger agnosia | 1 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 74 | | |
HP:0010524 | HP:0010527 | Astereognosia | 1 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0010524 | HP:0010527 | Astereognosia | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0010524 | HP:0010528 | Prosopagnosia | 1 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0010524 | HP:0010525 | Finger agnosia | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 241 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0010524 | HP:0010525 | Finger agnosia | 1 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 59 | | |
HP:0010524 | HP:0010525 | Finger agnosia | 1 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 3 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | | | |
HP:0010524 | HP:0010525 | Finger agnosia | 1 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | | | |
HP:0010524 | HP:0010525 | Finger agnosia | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040283 - Occasional | | | 31 | | |
HP:0010524 | HP:0030222 | Visual agnosia | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100069 | Semantic dementia | HP:0040281 - Very frequent | | | 31 | | |