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:0002183 | HP:0002183 | Phonophobia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 3 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 13 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | | | | 1053 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040282 - Frequent | | | 63 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | TNF CL E G H | 7124 | 11892 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 7 | | |
HP:0002183 | HP:0002183 | Phonophobia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |