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:0000748 | HP:0000748 | Inappropriate laughter | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 4 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 405 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | | | | 33 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 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:0000748 | HP:0000748 | Inappropriate laughter | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | | | | 19 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:600274 | Frontotemporal dementia | . | | | 140 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:172700 | Pick disease of brain | . | | | 140 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:600274 | Frontotemporal dementia | . | | | 241 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:172700 | Pick disease of brain | . | | | 241 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040282 - Frequent | | | 93 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 37 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040283 - Occasional | | | 278 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 278 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0000748 | HP:0000748 | Inappropriate laughter | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 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:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | . | | | 37 | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | . | | | 278 | | |
HP:0000748 | HP:0000749 | Paroxysmal bursts of laughter | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |