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:0000713 | HP:0000713 | Agitation | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040282 - Frequent | | | 245 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | . | | | 22 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | . | | | 59 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 32 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 74 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619970 | | | | | 1 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 11 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 56 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 11 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 42 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 86 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | HP:0040283 - Occasional | | | 145 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:617171 | Dyskinesia, seizures, and intellectual developmental disorder | . | | | 33 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ECE1 CL E G H | 1889 | 3146 | OMIM:613870 | Hirschsprung disease, cardiac defects, and autonomic dysfunction | . | | | 13 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 4 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 15 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 111 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617903 | Neurodevelopmental disorder with poor language and loss of hand skills | . | | | 5 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040282 - Frequent | | | 161 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 31 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 39 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | HP:0040283 - Occasional | | | 46 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 221 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 80 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | . | | | 27 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 24 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 101 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 62 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 23 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 55 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 4 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 138 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 25 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 241 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 65 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 53 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 62 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | . | | | 40 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 9 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 65 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 20 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 31 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:99819 | Familial gestational hyperthyroidism | HP:0040282 - Frequent | | | 97 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:424 | Familial hyperthyroidism due to mutations in TSH receptor | HP:0040282 - Frequent | | | 97 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 20 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 21 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040282 - Frequent | | | 15 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 116 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 63 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 8 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0000713 | HP:0000713 | Agitation | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |