Table 1.

Genes involved in each disease and their functions ( = uniquely downregulated, ↓=downregulated, =uniquely upregulated and ↑=upregulated)

Disease	Genes	Functions/pathways
AQM	CASQ1, ANK1, CAPN3	SR-related proteins: indicative of SR size and Ca2+ storage.
	CACNA1S, ↓CACNB1, ↓CACNG1	Serve as gates for Ca2+ from the t-tubule to SR needed to activate RyR1. Activated RyR1 allows release of Ca2+ into the sarcoplasm.
ALS	ACTA1, TNNI2, TNNC1, TNNC2, TNNT1, NEB, ↓TPM-1/2/3	Actin-related proteins: tropomyosins, which wrap around actin, prevent actin–myosin interaction. Troponins serve as binding sites on tropomyosin for Ca2+ and help strip tropomyosin from actin to allow myosin to interact with actin.
	MYH11, MYL1, MYL2, MYLPF, TTN, ↓MYH2, ↓MYH7, ↓MYOM1	Myosin-related proteins: myosin is comprised of heavy and light chains. Titin binds to the myosin, providing muscle integrity during its contraction and relaxation. Myomesins are responsible for anchoring myosin to titin.
DM	PQBP1, USP39, SNW1, LSM4, PRPF31, PRPF19, NAA38, XAB2, SNRPD2, U2AF1, PRPF4, RBM8A	Responsible for splicing of pre-mRNA.
	RSL24D1, RPL11, RPL37, RPL37A, RPL36A, RPS8, RPS20, RPL23	Large and small ribosome subunits.
	GANAB, LMAN1, PRKCSH, RRBP1, CALR, EIF2AK2, ↑EIF2AK1	Proteins related to protein processing in ER.
	UBE4B, PRPF19, ANAPC5, TCEB2, UBE2E1, UBE2M	Responsible for proper degradation of incorrectly folded proteins.
PM	HLA-A/B/C/F/G, ↑HLA-DR/DP/DQ/DM	MHC-I and MHC-II related proteins: MHC-I and MHC-II proteins are immune response proteins responsible for displaying antigen fragments.
	CXCL13, CXCR6, GNB5, DOCK2, CXCL9, RAC2, CCL4, CCL13, CCL18, XCL1	Chemokines, responsible for signaling immune cells.
	ITGA6, ITGA4, SIGLEC1, COL4A6, ITGB7	Proteins involved in cell adhesion molecules, focal adhesion and ECM receptor interaction, all of which aid leukocyte trafficking and migration.