| Locus |
Gene |
Descrição
|
| 4q25-q27
|
ANK2
|
ankyrin 2, neuronal
|
|
|
Complement Factor I
|
Complement Factor I
|
|
|
CRMP1
|
Collapsin response mediator protein 1, a member of CRMP family
|
|
|
CXCL1
|
chemokine (C-X-C motif) ligand 1, scyb1
|
|
|
CXCL2
|
chemokine (C-X-C motif) ligand 2, scyb2
|
|
|
CXCL3
|
chemokine (C-X-C motif) ligand 3, scyb3
|
|
|
CXCL4
|
chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4
|
|
|
CXCL5
|
chemokine (C-X-C motif) ligand 5, scyb5
|
|
|
CXCL6
|
chemokine (C-X-C motif) ligand 6, scyb6
|
|
|
CXCL7
|
chemokine (C-X-C motif) ligand 7, PPBP, scyb7
|
|
|
CXCL8
|
chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8
|
|
|
CXCL9
|
chemokine (C-X-C motif) ligand 9, scyb9
|
|
|
CXCL10
|
chemokine (C-X-C motif) ligand 10, scyb10
|
|
|
CXCL11
|
chemokine (C-X-C motif) ligand 11, scyb11
|
|
|
CXCL13
|
chemokine (C-X-C motif) ligand 13, scyb13
|
|
|
DUX4
|
Thought to be inactive but 2010 research shows a key role in FSHD[3]
|
|
|
EVC
|
Ellis van Creveld syndrome
|
|
|
EVC2
|
Ellis van Creveld syndrome 2 (limbin)
|
|
|
Factor XI
|
Mutations cause Haemophilia C
|
|
|
FGF2
|
Fibroblast growth factor 2 (basic fibroblast growth factor)
|
|
|
FGFR3
|
fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer)
|
|
|
FGFRL1
|
fibroblast growth factor receptor-like 1
|
|
|
HCL2 (also called RHA or RHC)
|
related to red hair
|
|
|
HTT (Huntingtin)
|
huntingtin protein (Huntington's disease)
|
|
|
IGJ
|
linker protein for immunoglobulin alpha and mu polypeptides
|
|
|
KDR
|
Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)
|
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
|
PHOX2B
|
codes for a homeodomain transcription factor
|
|
|
PKD2
|
polycystic kidney disease 2 (autosomal dominant)
|
|
|
PLK4
|
Serine/threonine-protein kinase PLK4
|
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
|
STATH
|
gene with protein product
|
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
|
UNC5C
|
netrin receptor UNC5C
|
|
|
WFS1
|
|
