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:0000734 | HP:0000734 | Disinhibition | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | . | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040282 - Frequent | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | | | | 59 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | | | | 56 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 7 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040282 - Frequent | | | 74 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 239 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 239 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 150 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 150 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 56 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 449 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 449 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 59 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 200 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | | | | 146 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 11 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 18 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | | | | 172 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 47 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 22 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 72 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | | | | 145 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 60 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 17 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | . | | | 30 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 48 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FTL CL E G H | 2512 | 3999 | OMIM:606159 | Neurodegeneration with brain iron accumulation 3 | . | | | 33 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 105 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 4 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 44 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | | | | 57 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 139 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | | | | 5 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | | | | 166 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 173 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | | | | 434 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 54 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | | | | 39 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 13 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 65 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | | | | 112 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | LGI1 CL E G H | 9211 | 6572 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | | | | 75 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | | | | 221 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | | | | 140 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | . | | | 140 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 45 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 8 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | | | | 23 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 14 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | | | | 225 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | | | | 11 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | | | | 55 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | | | | 138 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040282 - Frequent | | | 241 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | . | | | 241 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040282 - Frequent | | | 59 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 665 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | | | | 34 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | | | | 334 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 70 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 357 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 67 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 73 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | | | | 63 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | | | | 65 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040282 - Frequent | | | 3 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 62 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 99 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | | | | 8 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 108 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 9 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | | | | 9 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 123 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TARDBP CL E G H | 23435 | 11571 | OMIM:612069 | Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia | . | | | 65 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 65 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 20 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040282 - Frequent | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040282 - Frequent | | | 31 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 13 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | | | | 1 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | | | | 21 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040283 - Occasional | | | 63 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | | | | 8 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 149 | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0000734 | HP:0000734 | Disinhibition | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 34 | | |
HP:0000734 | HP:0031472 | Risk taking | 1 | CL E G H | | | | | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | AFF2 CL E G H | 2334 | 3776 | ORPHA:100973 | FRAXE intellectual disability | HP:0040282 - Frequent | | | 59 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | . | | | 59 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | AMT CL E G H | 275 | 473 | OMIM:605899 | Glycine encephalopathy | . | | | 56 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 239 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 150 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | | | | 17 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 449 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CEP152 CL E G H | 22995 | 29298 | OMIM:614852 | Microcephaly 9, primary, autosomal recessive | . | | | 146 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | . | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 18 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040282 - Frequent | | | 291 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040282 - Frequent | | | 291 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 172 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 47 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 72 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 60 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040282 - Frequent | | | 250 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 3 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 44 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | | | | 57 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 139 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GCSH CL E G H | 2653 | 4208 | OMIM:605899 | Glycine encephalopathy | . | | | 5 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GLDC CL E G H | 2731 | 4313 | OMIM:605899 | Glycine encephalopathy | . | | | 166 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | . | | | 13 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 39 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | . | | | 112 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | LGI1 CL E G H | 9211 | 6572 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 75 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 221 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | . | | | 22 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 8 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 23 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:101039 | Female restricted epilepsy with intellectual disability | HP:0040283 - Occasional | | | 225 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 55 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040283 - Occasional | | | 133 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 6 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 138 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | PTCHD1 CL E G H | 139411 | 26392 | OMIM:300830 | Autism, susceptibility to, X-linked 4 | . | | | 34 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 334 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 70 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 357 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 65 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | HP:0040283 - Occasional | | | 8 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 9 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 9 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 123 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040283 - Occasional | | | 1 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 21 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 111 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040284 - Very rare | | | 8 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 149 | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0000734 | HP:0100710 | Impulsivity | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |