Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 530 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040283 - Occasional | | | 141 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | . | | | 172 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | FMO3 CL E G H | 2328 | 3771 | ORPHA:468726 | Severe primary trimethylaminuria | HP:0040283 - Occasional | | | 55 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 10 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 139 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 139 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 54 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | . | | | 1 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 225 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 1053 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 1053 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 126 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 126 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 427 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 427 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040282 - Frequent | | | 318 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 318 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SLC45A1 CL E G H | 50651 | 17939 | OMIM:617532 | Intellectual developmental disorder with neuropsychiatric features | . | | | 2 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040284 - Very rare | | | 9 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008770 | HP:0008770 | Obsessive-compulsive trait | 0 | YWHAG CL E G H | 7532 | 12852 | OMIM:617665 | Epileptic encephalopathy, early infantile, 56 | . | | | | | |