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:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 67 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 76 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 356 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | 45 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | ELN CL E G H | 2006 | 3327 | OMIM:185500 | Supravalvular aortic stenosis | . | | | 172 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:3193 | Supravalvular aortic stenosis | HP:0040281 - Very frequent | | | 172 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 2157 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 73 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 178 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004381 | HP:0004381 | Supravalvular aortic stenosis | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |