Entry |
|
Name |
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
|
Disease |
H00104 | Alternative complement pathway component defects |
H00821 | Age-related macular degeneration |
H01434 | Atypical hemolytic uremic syndrome |
|
Reference |
|
Authors |
Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR |
Title |
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. |
Journal |
|
Reference |
|
Authors |
Servais A, Fremeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grunfeld JP, Lesavre P, Noel LH, Fakhouri F |
Title |
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. |
Journal |
|
Reference |
|
Authors |
Armento A, Ueffing M, Clark SJ |
Title |
The complement system in age-related macular degeneration. |
Journal |
|
Reference |
|
Authors |
Park DH, Connor KM, Lambris JD |
Title |
The Challenges and Promise of Complement Therapeutics for Ocular Diseases. |
Journal |
|
LinkDB |
|