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:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040283 - Occasional | | | 32 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | COG5 CL E G H | 10466 | 14857 | OMIM:613612 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I | | | | 79 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040284 - Very rare | | | 25 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | . | | | 3 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | | | | 33 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | . | | | 36 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040282 - Frequent | | | 44 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040284 - Very rare | | | 1129 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0007366 | HP:0007366 | Atrophy/Degeneration affecting the brainstem | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 1 | | |