Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | Respiratory insufficiency |
Human | C20orf7 | 79133 | | Respiratory insufficiency |
Human | STRA6 | 64220 | stimulated by retinoic acid 6 | Respiratory insufficiency |
Human | ANKH | 56172 | ANKH inorganic pyrophosphate transport regulator | INFERRED, Score=800, UMLKSK CUI: C0035229 |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | Respiratory insufficiency |
Human | CRTAP | 10491 | cartilage associated protein | Death in infancy secondary to respiratory insufficiency/pneumonia |
Human | SLC7A7 | 9056 | solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 | Respiratory insufficiency |
Human | SUCLA2 | 8803 | succinate-CoA ligase, ADP-forming, beta subunit | Respiratory insufficiency due to muscle weakness |
Human | COLQ | 8292 | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase | Respiratory insufficiency due to muscle weakness |
Human | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | INFERRED, Score=800, UMLKSK CUI: C0035229 |
Human | UBA1 | 7317 | ubiquitin-like modifier activating enzyme 1 | Respiratory insufficiency |
Human | TNNT1 | 7138 | troponin T type 1 (skeletal, slow) | Death secondary to respiratory insufficiency |
Human | TK2 | 7084 | thymidine kinase 2, mitochondrial | Respiratory insufficiency due to muscle weakness |
Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | Majority die in neonatal period secondary to respiratory insufficiency |
Human | SNRPN | 6638 | small nuclear ribonucleoprotein polypeptide N | INFERRED, Score=800, UMLKSK CUI: C0035229 |
Human | SGCA | 6442 | sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) | Two adult brothers with a mild form of LGMD2D, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory |
Human | CCL5 | 6352 | chemokine (C-C motif) ligand 5 | INFERRED, Score=800, UMLKSK CUI: C0035229 |
Human | RNASE3 | 6037 | ribonuclease, RNase A family, 3 | INFERRED, Score=800, UMLKSK CUI: C0035229 |
Human | RAPSN | 5913 | receptor-associated protein of the synapse | Respiratory insufficiency due to muscle weakness |
Human | PLOD1 | 5351 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 | Respiratory insufficiency (secondary to chest deformity) |
Human | PLG | 5340 | plasminogen | INFERRED, Score=800, UMLKSK CUI: C0035229 |
Human | PEX7 | 5191 | peroxisomal biogenesis factor 7 | Respiratory insufficiency |
Human | NDUFS6 | 4726 | NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) | Respiratory insufficiency |
Human | NDUFS4 | 4724 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) | Respiratory insufficiency |
Human | NDUFV1 | 4723 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | Respiratory insufficiency |