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:0002141 | HP:0002141 | Gait imbalance | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 114 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 71 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 5 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040282 - Frequent | | | 9 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040281 - Very frequent | | | 18 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040282 - Frequent | | | 197 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040281 - Very frequent | | | 18 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040283 - Occasional | | | 351 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040283 - Occasional | | | 11 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 39 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 121 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 23 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 55 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040283 - Occasional | | | 79 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040283 - Occasional | | | 79 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 138 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 948 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040282 - Frequent | | | 162 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 54 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 149 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 9 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040281 - Very frequent | | | 12 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | TTBK2 CL E G H | 146057 | 19141 | ORPHA:98767 | Spinocerebellar ataxia type 11 | HP:0040281 - Very frequent | | | 57 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040283 - Occasional | | | 278 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 278 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 21 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002141 | HP:0002141 | Gait imbalance | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |