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:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | | | | 161 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | . | | | 29 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | . | | | 37 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | . | | | 28 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | . | | | 28 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | . | | | 31 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | . | | | 90 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | . | | | 3 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:619142 | CARDIOACROFACIAL DYSPLASIA 1; CAFD1 | | | | 2 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | . | | | 32 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | WDPCP CL E G H | 51057 | 28027 | OMIM:217085 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | . | | | 60 | | |
HP:0001674 | HP:0001674 | Complete atrioventricular canal defect | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |