eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fukuyama type congenital muscular dystrophy | ||||
| Disease ID | 1963 |
|---|---|
| Disease | fukuyama type congenital muscular dystrophy |
| Definition | An autosomal recessive muscular dystrophy caused by mutations in the gene encoding fukutin (FKTN). It is associated with characteristic brain and eye malformations, seizures, and mental retardation. |
| Synonym | cerebromuscular dystrophy, fukuyama type cmd, fukuyama dystrophy, fukuyama muscular fcmd fukuyama cmd fukuyama congenital muscular dystrophy fukuyama congenital muscular dystrophy (disorder) fukuyama muscular dystrophy fukuyama syndrome mddga4 muscular dystrophy fukuyama muscular dystrophy, congenital, fukuyama type muscular dystrophy, fukuyama muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type a, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 syndrome, fukuyama walker-warburg syndrome or muscle-eye-brain disease, fktn-related |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0410174 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:31) 10555 | AGPAT2 | 1.886 | DISEASES 375790 | AGRN | 3.227 | DISEASES 257 | ALX3 | 1.999 | DISEASES 148789 | B3GALNT2 | 3.537 | DISEASES 1641 | DCX | 2.208 | DISEASES 1756 | DMD | 3.809 | DISEASES 1785 | DNM2 | 2.041 | DISEASES 22845 | DOLK | 3.079 | DISEASES 8813 | DPM1 | 1.521 | DISEASES 8818 | DPM2 | 3.348 | DISEASES 54344 | DPM3 | 3.562 | DISEASES 84062 | DTNBP1 | 1.898 | DISEASES 8291 | DYSF | 3.544 | DISEASES 2018 | EMX2 | 2.634 | DISEASES 79147 | FKRP | 4.988 | DISEASES 164045 | HFM1 | 3.135 | DISEASES 3339 | HSPG2 | 1.07 | DISEASES 729920 | ISPD | 2.543 | DISEASES 3679 | ITGA7 | 3.804 | DISEASES 3908 | LAMA2 | 5.094 | DISEASES 4205 | MEF2A | 1.649 | DISEASES 4208 | MEF2C | 1.744 | DISEASES 25834 | MGAT4C | 3.927 | DISEASES 146664 | MGAT5B | 3.557 | DISEASES 5048 | PAFAH1B1 | 1.843 | DISEASES 55624 | POMGNT1 | 5.364 | DISEASES 10585 | POMT1 | 5.116 | DISEASES 5649 | RELN | 1.469 | DISEASES 27286 | SRPX2 | 1.846 | DISEASES 81493 | SYNC | 3.233 | DISEASES 23336 | SYNM | 3.07 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1963 |
|---|---|
| Disease | fukuyama type congenital muscular dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1963 |
|---|---|
| Disease | fukuyama type congenital muscular dystrophy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267606814 | NA | 2218 | FKTN | umls:C0410174 | CLINVAR | NA | 0.572214884 | NA | FKTN | 9 | 105617967 | C | T |
| rs398123557 | NA | 2218 | FKTN | umls:C0410174 | CLINVAR | NA | 0.572214884 | NA | FKTN | 9 | 105604487 | - | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1963 |
|---|---|
| Disease | fukuyama type congenital muscular dystrophy |
| Case | (Waiting for update.) |