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:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | | | | 172 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | HP:0040283 - Occasional | | | 11 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | . | | | 138 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0004969 | HP:0004969 | Peripheral pulmonary artery stenosis | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |