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:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | ENTPD1 CL E G H | 953 | 3363 | ORPHA:401810 | Autosomal recessive spastic paraplegia type 64 | HP:0040282 - Frequent | | | 3 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 434 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | KCNMA1 CL E G H | 3778 | 6284 | ORPHA:79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | | | | 18 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | | | | 70 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | | | | 357 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 50 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040283 - Occasional | | | 271 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006889 | HP:0006889 | Intellectual disability, borderline | 0 | YY1AP1 CL E G H | 55249 | 30935 | ORPHA:79094 | Grange syndrome | HP:0040281 - Very frequent | | | 5 | | |