Table 1.
Overview of conditions that are associated with genes that contain a significant enrichment of minor introns
| Condition | Primary affected organ system | # of associated MIGs | # of total associated genes | Fisher exact p‐value | Affected MIGs |
|---|---|---|---|---|---|
| Brugada syndrome | Cardiovascular system | 4 | 28 | p = .0073 | CACNA1C; CACNA2D1; SCN10A; SCN5A |
| Long QT syndrome | Cardiovascular system | 8 | 112 | p = .0134 | CACNA1C; CACNA2D1; DNA2; HNRNPM; INTS8; RALGAPA1; SCN5A; TCTN3 |
| Wolff‐Parkinson‐White pattern | Cardiovascular system | 4 | 46 | p = .0391 | CACNA1C; CACNA1E; MYH11; SCN5A |
| Jeune syndrome | Skeletal system | 4 | 25 | p = .0048 | C2CD3; IFT74; IFT80; IFT88 |
| Epileptic encephalopathy | Nervous system | 14 | 105 | p < .00001 | ACTL6B; ATP6V1A; CACNA1A; CACNA1E; CACNA2D2; CAD; MAPK10 ; PLCB1; SCN1A; SCN2A; SCN3A; SCN8A; SLC12A5; TRIT1 |
| Joubert syndrome | Nervous system | 9 | 47 | p < .00001 | ARMC9; C2CD3; CEP41; KIAA0556; PDE6D; TCTN1; TCTN3; TMEM107; TMEM231 |
| Charcot‐Marie‐Tooth disease | Nervous system | 6 | 87 | p = .035 | FIG4 ; GARS; HARS; SCN9A; SLC12A6; SPG11 |
| Congenital disorder of glycosylation | Nervous system & Digestive system | 8 | 49 | p = .00001 | ALG12; ALG3; ALG6; ALG8; COG6; HMBS; MAGT1; TUSC3 |