Table 2 Human genes identified as having experienced a human lineage-specific increase in copy number and which harbour mutations causing, or 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. |
|---|---|---|---|---|---|---|---|---|
AQP7 | Aquaporin 7 | 9p13.3 | Missense (Gly264Val) | CM023765 | DP | rs62542743 | No exercise-induced glycerol increase, association with | [33] |
CDH12 | Cadherin 12, type 2 | 5p14.3 | Missense (Val68Met) | CM067358 | DP | rs4371716 | Lung cancer susceptibility, association with | [34] |
CHRFAM7A | CHRNA7 (cholinergic nicotinic acetylcholine receptor, alpha 7 subunit, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion | 15q13.2 | Micro-deletion (coding region) | CD025514 | DFP | -- | P50 sensory gating deficit, association with | [35] |
DRD5 | Dopamine receptor D5 | 4p16.1 | Nonsense (Cys335Term) | CM995180 | FP | -- | Dopamine receptor D5 deficiency | [36] |
FCGR1A | Fc fragment of IgG, high affinity Ia, receptor | 1q21.2 | Nonsense (Arg92Term) | CM950456 | DM | -- | IgG receptor I, phagocytic, deficiency | [37] |
GTF2IRD2 | General transcription factor 2-I repeat domain-containing protein 2 | 7q11.23 | Complete gene deletion | CG044469 | DM | -- | Williams-Beuren syndrome features | [38] |
NAIP | NLR family, apoptosis inhibitory protein | 5q13.2 | Complete gene deletion Partial gene deletion | CG952277 CG952278 | DM DM | -- | Spinal muscular atrophy | [39] |
NCF1 | Neutrophil cytosolic factor 1 | 7q11.23 | Nonsense (Gln91Term) | CM065336 | DM | -- | Chronic granulomatous disease | [40] |
OCLN | Occludin | 5q13.2 | Missense (Phe219Ser) | CM105655 | DM | -- | Band-like calcification, simplified gyration and polymicrogyria | [41] |