Table 5 of Oliver, Mol Vis 2019; 25:93-105.
Gene | Gene full name | Function | Associated disorders/phenotypes |
---|---|---|---|
SIGLEC1 | Sialoadhesin | Endocytic receptor mediating clathrin dependent endocytosis | Glomerulonephritis Sclerosis X-linked intellectual disability |
C20orf194 | Chromosome 20 open reading frame 194 | May act as an effector for ARL3 | HIV-1 Hepatitis |
SLC4A11 | Solute Carrier Family 4 Member 11 | Transporter which plays an important role in sodium-mediated fluid transport in different organs. | Corneal dystrophy HIV-1 Hepatitis |
PROSAPIP1 | Proline Rich Synapse Associated Protein Interacting Protein 1 | May be involved in promoting the maturation of dendritic spines | Hepatitis |
OXT | Oxytocin | Contraction of smooth muscle of uterus and mammary gland | Persistent genital arousal Endometritis Inhibited male orgasm Epignathus Chorioamnionitis Parturition Lactation |
CXCR1 | Chemokine (CXC) Receptor 1 | Neutrophil activation, neutrophil count | HIV-1 Pyelonephritis & urinary tract infections Idiopathic anterior uveitis |
CXCR2 | Chemokine (CXC) Receptor 2 | Neutrophil activation, neutrophil count | Congenital neutropaenia Neutrophil migration Pyelonephritis Septicaemia Granulocytic anaplasmosis |
ARPC2 | Actin Related Protein 2/3 Complex Subunit 2 | Actin filament assembly. Platelet, reticuloycte and neutrophil count | Platelet, reticuloycte and neutrophil count |