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:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | | | | 3 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 42 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 126 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 140 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 241 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 31 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0007112 | HP:0007112 | Temporal cortical atrophy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0007112 | HP:0410170 | Hippocampal atrophy | 1 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | . | | | 3 | | |
HP:0007112 | HP:0410170 | Hippocampal atrophy | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0007112 | HP:0410170 | Hippocampal atrophy | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0007112 | HP:0410170 | Hippocampal atrophy | 1 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0007112 | HP:0410170 | Hippocampal atrophy | 1 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0007112 | HP:0410170 | Hippocampal atrophy | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | . | | | 101 | | |
HP:0007112 | HP:0410170 | Hippocampal atrophy | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |