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:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 530 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 636 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 15 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 33 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | | | | 115 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040283 - Occasional | | | 35 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 516 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 516 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration | | | | 55 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 352 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 40 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040282 - Frequent | | | 31 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 173 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 78 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 777 | | |
HP:0012157 | HP:0012157 | Subcortical cerebral atrophy | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 155 | | |
HP:0012157 | HP:0007132 | Pallidal degeneration | 1 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 115 | | |
HP:0012157 | HP:0007132 | Pallidal degeneration | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration | . | | | 55 | | |