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:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | ARF1 CL E G H | 375 | 652 | OMIM:618185 | Periventricular nodular heterotopia 8 | | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | HP:0040283 - Occasional | | | 449 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | . | | | 48 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | HP:0040284 - Very rare | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | HP:0040283 - Occasional | | | 38 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040282 - Frequent | | | 4 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | DLG4 CL E G H | 1742 | 2903 | OMIM:618793 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62 | | | | 2 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040282 - Frequent | | | 177 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | | | | 276 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | | | | 25 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040283 - Occasional | | | 18 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040281 - Very frequent | | | 11 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040282 - Frequent | | | 7 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040282 - Frequent | | | 83 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | . | | | 1 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | | | | 66 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040281 - Very frequent | | | 162 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | | | | 11 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040282 - Frequent | | | 9 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | | | | 1 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | TRPC3 CL E G H | 7222 | 12335 | ORPHA:458798 | Spinocerebellar ataxia type 41 | HP:0040282 - Frequent | | | 1 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0006855 | HP:0006855 | Cerebellar vermis atrophy | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |