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:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:180000 | Retinal arteries, tortuosity of | . | | | 193 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 109 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 125 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 39 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001136 | HP:0001136 | Retinal arteriolar tortuosity | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |