G2Cdb::Gene report
- Gene id
- G00001856
- Gene symbol
- DSG1 (HGNC)
- Species
- Homo sapiens
- Description
- desmoglein 1
- Orthologue
- G00000607 (Mus musculus)
Diseases (3)
| Disease |
Nervous effect |
Mutations Found |
Literature |
Mutations Type |
Genetic association? |
| D00000250: Striate palmoplantar keratoderma |
N |
Y |
(11313759) |
Single nucleotide insertion (SNI) |
Y |
| D00000250: Striate palmoplantar keratoderma |
N |
Y |
(11313759) |
Single nucleotide deletion (SND) |
Y |
| D00000250: Striate palmoplantar keratoderma |
N |
Y |
(11313759) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000246: Pemphigus foliaceus |
N |
Y |
(12209366) |
Single nucleotide polymorphism (SNP) |
Y |
| D00000249: Striate keratoderma |
N |
Y |
(12930313) |
Nonsense (No) |
Y |
References
Literature (58)
Pubmed - human_disease
Pubmed - other
Gene lists (3)
| Gene List |
Source |
Species |
Name |
Description |
Gene count |
| L00000009 |
G2C |
Homo sapiens |
Human PSD |
Human orthologues of mouse PSD adapted from Collins et al (2006) |
1080 |
| L00000015 |
G2C |
Homo sapiens |
Human NRC |
Human orthologues of mouse NRC adapted from Collins et al (2006) |
186 |
| L00000016 |
G2C |
Homo sapiens |
Human PSP |
Human orthologues of mouse PSP adapted from Collins et al (2006) |
1121 |
