# Special Issue: “Genes and Human Diseases”

**Authors:** Mikhail Churnosov

PMC · DOI: 10.3390/ijms25084455 · International Journal of Molecular Sciences · 2024-04-18

## Full-text entities

- **Genes:** HSPA8 (heat shock protein family A (Hsp70) member 8) [NCBI Gene 3312] {aka HEL-33, HEL-S-72p, HSC54, HSC70, HSC71, HSP71}, SLC22A12 (solute carrier family 22 member 12) [NCBI Gene 116085] {aka OAT4L, RST, UAT, URAT1, hURAT1}, LEP (leptin) [NCBI Gene 3952] {aka LEPD, OB, OBS}, SERPING1 (serpin family G member 1) [NCBI Gene 710] {aka C1IN, C1INH, C1NH, HAE1, HAE2}, ERP27 (endoplasmic reticulum protein 27) [NCBI Gene 121506] {aka C12orf46, PDIA8}, VSIG2 (V-set and immunoglobulin domain containing 2) [NCBI Gene 23584] {aka 2210413P10Rik, CTH, CTXL}, RLN1 (relaxin 1) [NCBI Gene 6013] {aka H1, H1RLX, RLXH1, bA12D24.3.1, bA12D24.3.2}, ANPEP (alanyl aminopeptidase, membrane) [NCBI Gene 290] {aka AP-M, AP-N, APN, CD13, GP150, LAP1}, HSP90AB1 (heat shock protein 90 alpha family class B member 1) [NCBI Gene 3326] {aka D6S182, HSP84, HSP90B, HSPC2, HSPCB}, MYCN (MYCN proto-oncogene, bHLH transcription factor) [NCBI Gene 4613] {aka FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc}, NUP160 (nucleoporin 160) [NCBI Gene 23279] {aka NPHS19}, CREB3L4 (cAMP responsive element binding protein 3 like 4) [NCBI Gene 148327] {aka AIBZIP, ATCE1, CREB3, CREB4, JAL, hJAL}, HSP90AA1 (heat shock protein 90 alpha family class A member 1) [NCBI Gene 3320] {aka EL52, HEL-S-65p, HSP86, HSP89A, HSP90A, HSP90N}, INS (insulin) [NCBI Gene 3630] {aka IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10}, SQSTM1 (sequestosome 1) [NCBI Gene 8878] {aka A170, DMRV, EBIAP, FTDALS3, NADGP, OSIL}, BID (BH3 interacting domain death agonist) [NCBI Gene 637] {aka FP497}, PCNT (pericentrin) [NCBI Gene 5116] {aka KEN, MOPD2, PCN, PCNT2, PCNTB, PCTN2}, HTT (huntingtin) [NCBI Gene 3064] {aka HD, IT15, LOMARS}, HFE (homeostatic iron regulator) [NCBI Gene 3077] {aka HFE1, HH, HLA-H, MVCD7, TFQTL2}, SERPINF1 (serpin family F member 1) [NCBI Gene 5176] {aka EPC-1, OI12, OI6, PEDF, PIG35}, SLC2A9 (solute carrier family 2 member 9) [NCBI Gene 56606] {aka GLUT9, GLUTX, UAQTL2, URATv1}, PHGDH (phosphoglycerate dehydrogenase) [NCBI Gene 26227] {aka 3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG}, NDC1 (NDC1 transmembrane nucleoporin) [NCBI Gene 55706] {aka NEDAPA, NET3, TMEM48}, BDNF (brain derived neurotrophic factor) [NCBI Gene 627] {aka ANON2, BULN2}, IGF1R (insulin like growth factor 1 receptor) [NCBI Gene 3480] {aka CD221, IGFIR, IGFR, JTK13}, IL6 (interleukin 6) [NCBI Gene 3569] {aka BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2}, RB1 (RB transcriptional corepressor 1) [NCBI Gene 5925] {aka OSRC, PPP1R130, RB, p105-Rb, p110-RB1, pRb}, SP1 (Sp1 transcription factor) [NCBI Gene 6667], APOE (apolipoprotein E) [NCBI Gene 348] {aka AD2, APO-E, ApoE4, LDLCQ5, LPG}, RPS19BP1 (ribosomal protein S19 binding protein 1) [NCBI Gene 91582] {aka AROS, S19BP}, BAG3 (BAG cochaperone 3) [NCBI Gene 9531] {aka BAG-3, BIS, CAIR-1, CMD1HH, CMT2JJ, HMND15}, CLEC16A (C-type lectin domain containing 16A) [NCBI Gene 23274] {aka Gop-1, KIAA0350}, IDH2 (isocitrate dehydrogenase (NADP(+)) 2) [NCBI Gene 3418] {aka D2HGA2, ICD-M, IDH, IDH-2, IDHM, IDP}, PSEN1 (presenilin 1) [NCBI Gene 5663] {aka ACNINV3, AD3, CMD1U, FAD, PS-1, PS1}, IGF2R (insulin like growth factor 2 receptor) [NCBI Gene 3482] {aka CD222, CI-M6PR, CIMPR, M6P-R, M6P/IGF2R, MPR 300}, RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) [NCBI Gene 5894] {aka CMD1NN, CRAF, NS5, Raf-1, c-Raf}, HSPA4 (heat shock protein family A (Hsp70) member 4) [NCBI Gene 3308] {aka APG-2, HEL-S-5a, HS24/P52, HSPH2, RY, hsp70}, HSPA1B (heat shock protein family A (Hsp70) member 1B) [NCBI Gene 3304] {aka HSP70-1, HSP70-1B, HSP70-2, HSP70.1, HSP70.2, HSP72}
- **Diseases:** Huntington's Disease (MESH:D006816), Osteogenesis Imperfecta Type VI (MESH:C536047), neurodegeneration (MESH:D019636), neuroendocrine carcinoma (MESH:D018278), allergic rhinitis (MESH:D065631), Human Diseases (MESH:D004194), uterine fibroids:55 (MESH:D007889), Clear Cell Renal Cell Carcinoma (MESH:D002292), neuroblastoma (MESH:D009447), diabetic (MESH:D003920), fractures (MESH:D050723), endometriosis (MESH:D004715), breast cancer (MESH:D001943), Retinoblastoma (MESH:D012175), injury to people or property (MESH:C000719191), Neuroendocrine and Ductal Carcinoma (MESH:D044584), endometrial hyperplasia (MESH:D004714), autoimmune disorders (MESH:D001327), Tumor (MESH:D009369), immune disorders (MESH:D007154), small cell neuroendocrine cancer (MESH:D055752), renal hyperuricemia (MESH:D033461), blood pressure:30 (MESH:D006973), autosomal recessive disease (MESH:D030342), small cell neuroendocrine carcinoma (MESH:D018288), deaths (MESH:D003643), Type 2 Diabetes Mellitus (MESH:D003924), rheumatoid arthritis (MESH:D001172), Majewski Osteodysplastic Primordial Dwarfism Type II (MESH:C565898), Arterial Hypertension (MESH:D000081029), Parkinson's disease (MESH:D010300), Prostate Cancer (MESH:D011471), carcinogenesis (MESH:D063646), multiple sclerosis (MESH:D009103), ductal adenocarcinoma (MESH:D000230), type 1 diabetes (MESH:D003922), precancerous disorder (MESH:D011230), ischemic stroke (MESH:D002544), Renal Hypouricemia (MESH:C537757), hemorrhagic (MESH:D006470), polycystic ovaries:79 (MESH:D011085), bladder, breast, colon (MESH:D061325), cardiovascular diseases (MESH:D002318), multiple fractures (MESH:D000069076), systemic lupus erythematosus (MESH:D008180)
- **Chemicals:** vancomycin (MESH:D014640), beta-lactam (MESH:D047090), aminoglycoside (MESH:D000617), tetracycline (MESH:D013752), macrolide/lincosamide (-), Glutathione (MESH:D005978), fluoroquinolone (MESH:D024841), streptogramin B (MESH:D025381), urate (MESH:D014527)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** p.R198H, rs143384, c.374C>T, rs1799945, p.T87fs, c.259_260insCGGCC, c.1400C>T

## Full text

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## References

32 references — full list in the complete paper: https://tomesphere.com/paper/PMC11050120/full.md

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Source: https://tomesphere.com/paper/PMC11050120