Achalasia Cardia Explore Disorder's Alias
An Autosomal recessive mode(s) within the Gastrointestinal disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Gastrointestinal 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 | NOS1/4842 | nitric oxide synthase 1 | 12q24.22 | Chr12, NC_000012.12 (117208142..117361626, complement) |
153485 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | VIP/7432 | vasoactive intestinal peptide | 6q25.2 | Chr6, NC_000006.12 (152750797..152759760) |
8964 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | AAAS/8086 | aladin WD repeat nucleoporin | 12q13.13 | Chr12, NC_000012.12 (53307460..53321610, complement) |
14151 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CRLF1/9244 | cytokine receptor like factor 1 | 19p13.11 | Chr19, NC_000019.10 (18593237..18606799, complement) |
13563 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |