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:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040284 - Very rare | | | 94 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040284 - Very rare | | | 188 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040284 - Very rare | | | 225 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040284 - Very rare | | | 88 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040284 - Very rare | | | 1 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040284 - Very rare | | | 172 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040284 - Very rare | | | 321 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0025235 | HP:0025235 | Non-rapid eye movement parasomnia | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 94 | | |
HP:0025235 | HP:0025236 | Somnambulism | 1 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 94 | | |
HP:0025235 | HP:0025236 | Somnambulism | 1 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 188 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 188 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 225 | | |
HP:0025235 | HP:0025236 | Somnambulism | 1 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 225 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 88 | | |
HP:0025235 | HP:0025236 | Somnambulism | 1 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 88 | | |
HP:0025235 | HP:0025236 | Somnambulism | 1 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0025235 | HP:0025236 | Somnambulism | 1 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 172 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 172 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 321 | | |
HP:0025235 | HP:0025236 | Somnambulism | 1 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 321 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0025235 | HP:0025237 | Confusional arousal | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0025235 | HP:0030765 | Sleep terror | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0025235 | HP:0030765 | Sleep terror | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |