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:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 94 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 188 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 225 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 88 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 172 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040284 - Very rare | | | 528 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040284 - Very rare | | | 302 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 321 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0031535 | HP:0031535 | Increased theta frequency activity in EEG | 0 | SETD1B CL E G H | 23067 | 29187 | OMIM:619000 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD | | | | | | |