Autosomal Dominant Polycystic Kidney Disease(ADPKD) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Nephrological disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PKD2/5311 | polycystin 2, transient receptor potential cation channel | 4q22.1 | Chr4, NC_000004.12 (88007635..88077777) |
70143 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PKD1/5310 | polycystin 1, transient receptor potential channel interacting | 16p13.3 | Chr16, NC_000016.10 (2088708..2135898, complement) |
47191 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | GANAB/23193 | glucosidase II alpha subunit | 11q12.3 | Chr11, NC_000011.10 (62624829..62646613, complement) |
21785 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | DNAJB11/51726 | DnaJ heat shock protein family (Hsp40) member B11 | 3q27.3 | Chr3, NC_000003.12 (186570720..186585793) |
15074 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |