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:0001350 | HP:0001350 | Slurred speech | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | . | | | 135 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ACOX2 CL E G H | 8309 | 120 | OMIM:617308 | Bile acid synthesis defect, congenital, 6 | . | | | 2 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | CA8 CL E G H | 767 | 1382 | OMIM:613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3 | . | | | 8 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | CTSH CL E G H | 1512 | 2535 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | FASTKD2 CL E G H | 22868 | 29160 | OMIM:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44 | | | | 122 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230650 | Gm1-gangliosidosis, type III | . | | | 120 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | HCRT CL E G H | 3060 | 4847 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | . | | | 177 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | . | | | 145 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:972 | Hereditary continuous muscle fiber activity | HP:0040282 - Frequent | | | 145 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040283 - Occasional | | | 35 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | LINGO1 CL E G H | 84894 | 21205 | OMIM:618103 | Mental retardation, autosomal recessive 64 | | | | | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | MOG CL E G H | 4340 | 7197 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | | | | | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | P2RY11 CL E G H | 5032 | 8540 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 6 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | | | | 171 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 126 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:98766 | Spinocerebellar ataxia type 5 | HP:0040281 - Very frequent | | | 126 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | | | | 9 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | TNFSF4 CL E G H | 7292 | 11934 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040281 - Very frequent | | | | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0001350 | HP:0001350 | Slurred speech | 0 | ZNF365 CL E G H | 22891 | 18194 | ORPHA:2073 | Narcolepsy type 1 | HP:0040283 - Occasional | | | 3 | | |
HP:0001350 | HP:0007164 | Slowed slurred speech | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0001350 | HP:0007164 | Slowed slurred speech | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0001350 | HP:0007164 | Slowed slurred speech | 1 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0001350 | HP:0007164 | Slowed slurred speech | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 6 | | |
HP:0001350 | HP:0007164 | Slowed slurred speech | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040282 - Frequent | | | 171 | | |
HP:0001350 | HP:0007164 | Slowed slurred speech | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:391411 | Atypical juvenile parkinsonism | HP:0040281 - Very frequent | | | 9 | | |