Table 1 Human-specific genes that have been associated with inherited disease
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. |
|---|---|---|---|---|---|---|---|---|
CCL3L1 | Chemokine (C-C motif) ligand 3-like 1 | 17q12 | CNV (duplication of entire gene) | CN052767 | DP | -- | HIV/AIDS susceptibility, association with Kawasaki disease Rheumatoid arthritis, association with Chronic hepatitis C infection, susceptibility to | [17] [18] [19] [20] |
FOXD4 | Forkhead box D4 | 9p24.3 | Missense (Trp148Arg) | CM073074 | DM | -- | Dilated cardiomyopathy, obsessive-compulsive disorder and suicidality | [21] |
MRC1 | Mannose receptor, C type 1 | 10p12.33 | Missense (Gly396Ser) | CM099897 | DP | rs1926736 | Leprosy, protection against/association with | [22] |
SMN2 | Survival of motor neurone 2, centromeric | 5q13.2 | CNV (duplication of entire gene) Missense (Gly287Arg) Deletion (exons 7 and 8) | CN082433 CM095436 CG015657 | DM DM DM | -- -- -- | Spinal muscular atrophy 3 Spinal muscular atrophy, modifier of Spinal muscular atrophy | [23] [24] [25] [26] |