From: Exploring the potential relevance of human-specific genes to complex disease
Gene symbol | Gene name | Chrom. loc. | Disease-associated mutation (DM) | HGMD accession No. | HGMD entry tag | dbSNP No. | Associated disease state | Reference No. |
---|---|---|---|---|---|---|---|---|
APOL1 | Apolipoprotein L1 | 22q12.3 | Missense (Ser342Gly) Missense (Ile384Met) Microdeletion (6 bp) | CM105041 CM105043 CD105044 | DFP DFP DFP | rs73885319 rs60910145 rs71785313 | Resistance to trypanosomes | [47] |
BTNL2 | Butyrophilin-like 2 | 6p21.32 | Splice site mutation (IVS5 DS -1 G > A) | CS051245 | DFP | rs2076530 | Sarcoidosis, association with | [48] |
CD24 | CD24 molecule | 6q21 | Missense (Ala57Val) | CM035761 | DFP | rs52812045 | Multiple sclerosis, modifier of susceptibility to Lupus erythematosus, susceptibility to Chronic hepatitis B infection, risk of | [49] [50] [51] |
HCP5 | HLA complex P5 | 6p21.3 | Missense (Val112Gly) | CM074273 | DP | rs2395029 | Reduced HIV viral load, association with | [52] |
MICA | MHC class I polypeptide- related sequence A | 6p21.33 | Missense (Lys196Glu) Missense (Val152Met) | CM0910116 CM058256 | DP DP | rs1051794 rs1051792 | Rheumatoid arthritis, association with Ankylosing spondylitis, early onset, association with | [53] [54] |
NBEA | Neurobeachin | 13q13.3 | Balanced translocation t(5;13) (q12.1;q13.2) | CP035454 | DM | -- | Autism, idiopathic | [55] |
RNASE3 | Ribonuclease, RNase A family, 3 | 14q11.2 | Missense (Thr124Arg) | CM025442 | DFP | rs2073342 | Expression of allergic symptoms Schistosoma mansoni infection, risk of | [56] [57] |
SFTPA1 | Surfactant protein A1 | 10q22.3 | Missense (Leu50Val) Missense (Arg219Trp) | CM033024 CM033026 | DP DP | rs1136450 rs4253527 | Idiopathic pulmonary fibrosis, association with Idiopathic pulmonary fibrosis, association with Tubersclerosis, susceptibility to | [58] [58] [59] |