Metazoan complexes |
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Emili & Marcotte labs |
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Details of FGD1 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| FGD1 | FGDY,ZFYVE3 | P98174 | FGD1_HUMAN | 2245 | ENSG00000102302 | FYVE, RhoGEF and PH domain-containing protein 1 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Aarskog-Scott syndrome (AAS) [MIM:305400]: A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity. Note=The disease is caused by mutations affecting the gene represented in this entry. | 305400 | Note=Defects in FGD1 are found in a pateint with non- syndromal X-linked mental retardation. | 305400 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Fgd1 | --- | C33D9.1 | Sp-Fgd4 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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