Paroxysmal Nocturnal Hemoglobinuria(Marchiafava-Micheli disease) Explore Disorder's Alias
An Unknown mode(s) within the Blood disorders category
Candidate Gene Information
An Unknown mode(s) within the Blood 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 | PIGA/5277 | phosphatidylinositol glycan anchor biosynthesis class A | Xp22.2 | ChrX, NC_000023.11 (15319451..15335554, complement) |
16104 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | LOC110806306/110806306 | telomerase RNA component (TERC) promoter | 3q26.2 | Chr3, NC_000003.12 (169764689..169765858) |
1170 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |