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Disorder Names

  • Sandhoff disease (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Sarcosinaemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Scapuloperoneal syndrome, myopathic type (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Schimke immunoosseous dysplasia (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Schindler disease (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Schinzel-Giedion midface retraction syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Schizencephaly (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Schopf-Schulz-Passarge syndrome (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Sclerosteosis (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Seckel syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Segawa syndrome (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Segawa syndrome (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Senior-Loken syndrome (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • SESAME syndrome (AARS, ACTB, ACY1, ADGRV1, ADRA2B, ADSL, AFG3L2, AGTR2, AKT3, ALDH7A1, ALG13, AMT....)
  • Short QT Syndrome (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • SHORT syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD) (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Sialic acid storage disease (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Sialidosis (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Sialuria (ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B3GNT....)
  • Sick sinus syndrome (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • Sickle cell anemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Sinoatrial node dysfunction and deafness (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • Sitosterolemia (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Sjogren-Larsson syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Skin fragility-woolly hair syndrome (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Smith-Lemli-Opitz syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Smith-Lemli-Opitz syndrome (ADNP, ADSL, AFF2, AUTS2, CDKL5, CHD8, DHCR7, DYRK1A, FMR1, FOXP1, GABRB3, GRIA3,....)
  • Snyder-Robinson syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Spastic paraplegia (ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, ATP13A2, ATP1A2, ATP1A3....)
  • Spherocytosis (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Spinal muscular atrophy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Stargardt disease (ABCA4, ELOVL4, PROM1....)
  • Sterol carrier protein X (SCP2) deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Stiff skin syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Stormorken syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Succinic semialdehyde dehydrogenase deficiency (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Succinyl CoA:3-oxoacid CoA transferase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Succinyl CoA:3-oxoacid CoA transferase deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Sucrase-isomaltase deficiency, congenital (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Sulfite oxidase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • SADDAN dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • SC phocomelia (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Schimke immunoosseous dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Schinzel-Giedion midface retraction syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Schneckenbecken dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Schwannomatosis (NF2, SMARCB1....)
  • Schwartz-Jampel syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Sclerosteosis (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • SED congenita (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Sensenbrenner Syndrome (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Severe spondylometaphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Sheldon-Hall syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Short rib thoracic dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Shprintzen-Goldberg syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Shwachman-Bodian-Diamond syndrome (SBDS....)
  • Shwachman-Diamond syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Simpson-Golabi-Behmel syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Simpson-Golabi-Behmel syndrome (GPC3....)
  • Singleton-Merten syndrome (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Skeletal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Skin cancer (BRCA2, CDK4, CDKN2A, ERCC2, ERCC3, ERCC4, ERCC5, PTEN, XPA, XPC....)
  • Sotos syndrome (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Sotos syndrome (NSD1....)
  • Split hand/foot malformation (CDH3, DLX5, FBXW4, FGFR1, PORCN, TP63, WNT10B, WNT7A....)
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Spondylocarpotarsal synostosis syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Spondylocostal dysostosis (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Spondyloenchondrodysplasia with immune dysregulation (ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, ....)
  • Spondyloepiphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Spondylometaepiphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Spondyloocular syndrome (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • Spondyloperipheral dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Stapes ankylosis with broad thumb and toes (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Stickler syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Symphalangism, proximal (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Strand ALK Test (by FISH) (ALK....)
  • Strand EGFR Single Gene Test (EGFR....)
  • Strand ROS1 Test (by FISH) (ROS1....)
  • Strand BRAF Single Gene Test (BRAF....)
  • Strand KRAS Single Gene Test (KRAS....)
  • Strand NRAS Single Gene Test (NRAS....)
  • Strand KIT Single Gene Test (KIT....)
  • Strand PDGFRA Single Gene Test (PDGFRA....)
  • Strand MSI Test (by IHC) (MSI (MLH1, MSH2, MSH6, PMS2)....)
  • Strand PD-L1 Test (by IHC) (PD-L1....)
  • StrandAdvantage 152-gene Test (ABCB1, ABCC1, AKT1, AKT2, AKT3, ALK, APC, AR, ATM, ATR, ATRX, AURKA, AURKB, AXL,....)
  • StrandAdvantage Tissue Specific Test - Breast by NGS (ERBB2, EGFR, PTEN, PIK3CA....)
  • StrandAdvantage Tissue Specific Test - Breast by NGS plus 5 novel IHC markers (ERBB2, EGFR, PTEN, PIK3CA IHC: TOP2A, MDR [PgP], TS, TUBB3, PTEN....)
  • StrandAdvantage Tissue Specific Test - Breast by NGS plus 8 comprehensive IHC markers (ERBB2, EGFR, PTEN, PIK3CA IHC: ER, PR, HER2, TOP2A, MDR [PgP], TS, TUBB3, PTEN....)
  • StrandAdvantage Tissue Specific Test - Breast by NGS plus 3 standard IHC markers (ERBB2, EGFR, PTEN, PIK3CA IHC: ER, PR, HER2....)
  • StrandAdvantage Tissue Specific Test - Lung by NGS (BRAF, EGFR, ERBB2, KRAS, MET....)
  • StrandAdvantage Tissue Specific Test - Lung by NGS (BRAF, EGFR, ERBB2, KRAS, MET....)
  • StrandAdvantage Tissue Specific Test - Lung by NGS plus ALK, ROS1 (by FISH) and PD-L1 (by IHC) (BRAF, EGFR, ERBB2, KRAS, MET FISH: ALK, ROS1, IHC: PD-L1....)
  • StrandAdvantage Tissue Specific Test - Lung by NGS plus 8 comprehensive markers (IHC & FISH) (BRAF, EGFR, ERBB2, KRAS, MET FISH: ALK, ROS1, IHC: ERCC1, PD-L1, Pgp, RRM1, TS,....)
  • StrandAdvantage Tissue Specific Test - Colon by NGS (BRAF, KRAS, MET, NRAS, PIK3CA, PTEN....)
  • StrandAdvantage Tissue Specific Test - Colon by NGS plus MSI (4 markers) by IHC (BRAF, KRAS, MET, NRAS, PIK3CA, PTEN IHC: MSI (MLH1, MSH2, MSH6, PMS2)....)
  • StrandAdvantage Tissue Specific Test - Colon by NGS plus MSI (4 markers) and 3 novel markers by IHC (BRAF, KRAS, MET, NRAS, PIK3CA, PTEN IHC: MSI (MLH1, MSH2, MSH6, PMS2), TS, ERCC1....)
  • Strand LB EGFR Sense Test for Lung Cancer (L858R, DEL19....)
  • Strand LB EGFR Resist Test for Lung Cancer (T790M....)
  • Strand LB EGFR Sense & Resist Test for Lung Cancer (L858R, DEL19, T790M....)
  • Strand CANCER MAP - Breast Cancer (ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR....)
  • Strand CANCER MAP - Colon Cancer (ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR....)
  • Strand CANCER MAP - Lung Cancer (ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR....)
  • Strand CANCER MAP - Ovarian Cancer (ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR....)
  • StrandAdvantage 56-gene Liquid Biopsy Test (ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR....)
  • StrandAdvantage 56-gene Test (ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR....)
  • S100A14 (S100A14....)
  • S100B (S100B....)
  • S1PR1 (S1PR1....)
  • SAA1 (SAA1....)
  • SAA2 (SAA2....)
  • SACS (SACS....)
  • SAG (SAG....)
  • SAGE1 (SAGE1....)
  • SALL1 (SALL1....)
  • SALL4 (SALL4....)
  • SAMD9 (SAMD9....)
  • SAMHD1 (SAMHD1....)
  • SAR1B (SAR1B....)
  • SARDH (SARDH....)
  • SARS2 (SARS2....)
  • SART1 (SART1....)
  • SART3 (SART3....)
  • SAT1 (SAT1....)
  • SATB2 (SATB2....)
  • SATL1 (SATL1....)
  • SBDS (SBDS....)
  • SBF2 (SBF2....)
  • SBK3 (SBK3....)
  • SBNO1 (SBNO1....)
  • SC5D (SC5D....)
  • SCAP (SCAP....)
  • SCARB1 (SCARB1....)
  • SCARB2 (SCARB2....)
  • SCARF2 (SCARF2....)
  • SCG2 (SCG2....)
  • SCG3 (SCG3....)
  • SCGB1A1 (SCGB1A1....)
  • SCGB1D2 (SCGB1D2....)
  • SCGB3A2 (SCGB3A2....)
  • SCN10A (SCN10A....)
  • SCN1A (SCN1A....)
  • SCN1B (SCN1B....)
  • SCN2A (SCN2A....)
  • SCN2B (SCN2B....)
  • SCN3A (SCN3A....)
  • SCN3B (SCN3B....)
  • SCN4A (SCN4A....)
  • SCN4B (SCN4B....)
  • SCN5A (SCN5A....)
  • SCN8A (SCN8A....)
  • SCN9A (SCN9A....)
  • SCNN1A (SCNN1A....)
  • SCNN1B (SCNN1B....)
  • SCNN1G (SCNN1G....)
  • SCO1 (SCO1....)
  • SCO2 (SCO2....)
  • SCP2 (SCP2....)
  • SCRIB (SCRIB....)
  • SCT (SCT....)
  • SCUBE2 (SCUBE2....)
  • SDC3 (SDC3....)
  • SDCCAG8 (SDCCAG8....)
  • SDHA (SDHA....)
  • SDHAF1 (SDHAF1....)
  • SDHAF2 (SDHAF2....)
  • SDHB (SDHB....)
  • SDHC (SDHC....)
  • SDHD (SDHD....)
  • SEC23A (SEC23A....)
  • SEC23B (SEC23B....)
  • SEC63 (SEC63....)
  • SECISBP2 (SECISBP2....)
  • SEL1L (SEL1L....)
  • SELE (SELE....)
  • SELL (SELL....)
  • SELP (SELP....)
  • SELPLG (SELPLG....)
  • SEMA3A (SEMA3A....)
  • SEMA3E (SEMA3E....)
  • SEMA4A (SEMA4A....)
  • SEMA4C (SEMA4C....)
  • SEMA4G (SEMA4G....)
  • SEMA6D (SEMA6D....)
  • SEMG1 (SEMG1....)
  • SEP15 (SEP15....)
  • SEPN1 (SEPN1....)
  • SEPP1 (SEPP1....)
  • SEPSECS (SEPSECS....)
  • SEPT12 (SEPT12....)
  • SEPT9 (SEPT9....)
  • SERPINA1 (SERPINA1....)
  • SERPINA10 (SERPINA10....)
  • SERPINA3 (SERPINA3....)
  • SERPINA6 (SERPINA6....)
  • SERPINA7 (SERPINA7....)
  • SERPINB11 (SERPINB11....)
  • SERPINB3 (SERPINB3....)
  • SERPINB5 (SERPINB5....)
  • SERPINB6 (SERPINB6....)
  • SERPINC1 (SERPINC1....)
  • SERPIND1 (SERPIND1....)
  • SERPINE1 (SERPINE1....)
  • SERPINF1 (SERPINF1....)
  • SERPINF2 (SERPINF2....)
  • SERPING1 (SERPING1....)
  • SERPINH1 (SERPINH1....)
  • SERPINI1 (SERPINI1....)
  • SERPINI2 (SERPINI2....)
  • SERTAD1 (SERTAD1....)
  • SESN2 (SESN2....)
  • SETBP1 (SETBP1....)
  • SETD2 (SETD2....)
  • SETD8 (SETD8....)
  • SETDB2 (SETDB2....)
  • SETX (SETX....)
  • SEZ6 (SEZ6....)
  • SEZ6L2 (SEZ6L2....)
  • SF3B4 (SF3B4....)
  • SFTPA1 (SFTPA1....)
  • SFTPA2 (SFTPA2....)
  • SFTPB (SFTPB....)
  • SFTPC (SFTPC....)
  • SFTPD (SFTPD....)
  • SGCA (SGCA....)
  • SGCB (SGCB....)
  • SGCD (SGCD....)
  • SGCE (SGCE....)
  • SGCG (SGCG....)
  • SGK1 (SGK1....)
  • SGK223 (SGK223....)
  • SGSH (SGSH....)
  • SH2B1 (SH2B1....)
  • SH2B3 (SH2B3....)
  • SH2D1A (SH2D1A....)
  • SH3BP2 (SH3BP2....)
  • SH3GL1 (SH3GL1....)
  • SH3PXD2B (SH3PXD2B....)
  • SH3TC2 (SH3TC2....)
  • SHANK2 (SHANK2....)
  • SHANK3 (SHANK3....)
  • SHBG (SHBG....)
  • SHFM1 (SHFM1....)
  • SHH (SHH....)
  • SHMT1 (SHMT1....)
  • SHOC2 (SHOC2....)
  • SHOX (SHOX....)
  • SHROOM3 (SHROOM3....)
  • SHROOM4 (SHROOM4....)
  • SI (SI....)
  • SIAE (SIAE....)
  • SIGLEC12 (SIGLEC12....)
  • SIGLEC14 (SIGLEC14....)
  • SIGLEC16 (SIGLEC16....)
  • SIGMAR1 (SIGMAR1....)
  • SIL1 (SIL1....)
  • SIM1 (SIM1....)
  • SIPA1 (SIPA1....)
  • SIRT1 (SIRT1....)
  • SIRT3 (SIRT3....)
  • SIRT5 (SIRT5....)
  • SIX1 (SIX1....)
  • SIX2 (SIX2....)
  • SIX3 (SIX3....)
  • SIX5 (SIX5....)
  • SIX6 (SIX6....)
  • SKI (SKI....)
  • SKIV2L (SKIV2L....)
  • SLBP (SLBP....)
  • SLC10A1 (SLC10A1....)
  • SLC10A2 (SLC10A2....)
  • SLC11A1 (SLC11A1....)
  • SLC11A2 (SLC11A2....)
  • SLC12A1 (SLC12A1....)
  • SLC12A3 (SLC12A3....)
  • SLC12A6 (SLC12A6....)
  • SLC13A2 (SLC13A2....)
  • SLC14A1 (SLC14A1....)
  • SLC14A2 (SLC14A2....)
  • SLC15A1 (SLC15A1....)
  • SLC16A1 (SLC16A1....)
  • SLC16A12 (SLC16A12....)
  • SLC16A2 (SLC16A2....)
  • SLC16A3 (SLC16A3....)
  • SLC17A1 (SLC17A1....)
  • SLC17A3 (SLC17A3....)
  • SLC17A5 (SLC17A5....)
  • SLC17A8 (SLC17A8....)
  • SLC18A1 (SLC18A1....)
  • SLC19A1 (SLC19A1....)
  • SLC19A2 (SLC19A2....)
  • SLC19A3 (SLC19A3....)
  • SLC1A1 (SLC1A1....)
  • SLC1A2 (SLC1A2....)
  • SLC1A3 (SLC1A3....)
  • SLC20A2 (SLC20A2....)
  • SLC22A1 (SLC22A1....)
  • SLC22A11 (SLC22A11....)
  • SLC22A12 (SLC22A12....)
  • SLC22A14 (SLC22A14....)
  • SLC22A2 (SLC22A2....)
  • SLC22A3 (SLC22A3....)
  • SLC22A4 (SLC22A4....)
  • SLC22A5 (SLC22A5....)
  • SLC22A6 (SLC22A6....)
  • SLC22A9 (SLC22A9....)
  • SLC23A1 (SLC23A1....)
  • SLC24A1 (SLC24A1....)
  • SLC24A2 (SLC24A2....)
  • SLC24A5 (SLC24A5....)
  • SLC25A12 (SLC25A12....)
  • SLC25A13 (SLC25A13....)
  • SLC25A15 (SLC25A15....)
  • SLC25A19 (SLC25A19....)
  • SLC25A20 (SLC25A20....)
  • SLC25A22 (SLC25A22....)
  • SLC25A3 (SLC25A3....)
  • SLC25A38 (SLC25A38....)
  • SLC25A39 (SLC25A39....)
  • SLC25A4 (SLC25A4....)
  • SLC26A1 (SLC26A1....)
  • SLC26A10 (SLC26A10....)
  • SLC26A2 (SLC26A2....)
  • SLC26A3 (SLC26A3....)
  • SLC26A4 (SLC26A4....)
  • SLC26A5 (SLC26A5....)
  • SLC26A6 (SLC26A6....)
  • SLC26A9 (SLC26A9....)
  • SLC27A4 (SLC27A4....)
  • SLC27A5 (SLC27A5....)
  • SLC28A1 (SLC28A1....)
  • SLC28A2 (SLC28A2....)
  • SLC28A3 (SLC28A3....)
  • SLC29A1 (SLC29A1....)
  • SLC29A2 (SLC29A2....)
  • SLC29A3 (SLC29A3....)
  • SLC29A4 (SLC29A4....)
  • SLC2A1 (SLC2A1....)
  • SLC2A10 (SLC2A10....)
  • SLC2A2 (SLC2A2....)
  • SLC2A4 (SLC2A4....)
  • SLC2A9 (SLC2A9....)
  • SLC30A10 (SLC30A10....)
  • SLC30A2 (SLC30A2....)
  • SLC30A5 (SLC30A5....)
  • SLC30A8 (SLC30A8....)
  • SLC31A1 (SLC31A1....)
  • SLC33A1 (SLC33A1....)
  • SLC34A1 (SLC34A1....)
  • SLC34A2 (SLC34A2....)
  • SLC34A3 (SLC34A3....)
  • SLC35A1 (SLC35A1....)
  • SLC35C1 (SLC35C1....)
  • SLC35D1 (SLC35D1....)
  • SLC35G2 (SLC35G2....)
  • SLC36A2 (SLC36A2....)
  • SLC37A4 (SLC37A4....)
  • SLC39A13 (SLC39A13....)
  • SLC39A4 (SLC39A4....)
  • SLC3A1 (SLC3A1....)
  • SLC40A1 (SLC40A1....)
  • SLC41A1 (SLC41A1....)
  • SLC44A2 (SLC44A2....)
  • SLC45A2 (SLC45A2....)
  • SLC46A1 (SLC46A1....)
  • SLC47A1 (SLC47A1....)
  • SLC47A2 (SLC47A2....)
  • SLC4A1 (SLC4A1....)
  • SLC4A10 (SLC4A10....)
  • SLC4A11 (SLC4A11....)
  • SLC4A3 (SLC4A3....)
  • SLC4A4 (SLC4A4....)
  • SLC52A1 (SLC52A1....)
  • SLC52A3 (SLC52A3....)
  • SLC5A1 (SLC5A1....)
  • SLC5A11 (SLC5A11....)
  • SLC5A2 (SLC5A2....)
  • SLC5A5 (SLC5A5....)
  • SLC5A7 (SLC5A7....)
  • SLC6A1 (SLC6A1....)
  • SLC6A11 (SLC6A11....)
  • SLC6A12 (SLC6A12....)
  • SLC6A13 (SLC6A13....)
  • SLC6A14 (SLC6A14....)
  • SLC6A18 (SLC6A18....)
  • SLC6A19 (SLC6A19....)
  • SLC6A2 (SLC6A2....)
  • SLC6A20 (SLC6A20....)
  • SLC6A3 (SLC6A3....)
  • SLC6A4 (SLC6A4....)
  • SLC6A5 (SLC6A5....)
  • SLC6A8 (SLC6A8....)
  • SLC7A1 (SLC7A1....)
  • SLC7A10 (SLC7A10....)
  • SLC7A2 (SLC7A2....)
  • SLC7A5 (SLC7A5....)
  • SLC7A7 (SLC7A7....)
  • SLC7A9 (SLC7A9....)
  • SLC8A1 (SLC8A1....)
  • SLC9A3R1 (SLC9A3R1....)
  • SLC9A6 (SLC9A6....)
  • SLC9A9 (SLC9A9....)
  • SLCO1A2 (SLCO1A2....)
  • SLCO1B1 (SLCO1B1....)
  • SLCO1B3 (SLCO1B3....)
  • SLCO1C1 (SLCO1C1....)
  • SLCO2A1 (SLCO2A1....)
  • SLCO2B1 (SLCO2B1....)
  • SLFN5 (SLFN5....)
  • SLIT3 (SLIT3....)
  • SLITRK1 (SLITRK1....)
  • SLURP1 (SLURP1....)
  • SLX4 (SLX4....)
  • SMAD1 (SMAD1....)
  • SMAD2 (SMAD2....)
  • SMAD3 (SMAD3....)
  • SMAD4 (SMAD4....)
  • SMAD6 (SMAD6....)
  • SMAD7 (SMAD7....)
  • SMAD9 (SMAD9....)
  • SMARCA2 (SMARCA2....)
  • SMARCA4 (SMARCA4....)
  • SMARCAD1 (SMARCAD1....)
  • SMARCAL1 (SMARCAL1....)
  • SMARCB1 (SMARCB1....)
  • SMARCE1 (SMARCE1....)
  • SMC1A (SMC1A....)
  • SMC1B (SMC1B....)
  • SMC3 (SMC3....)
  • SMG1 (SMG1....)
  • SMG6 (SMG6....)
  • SMN1 (SMN1....)
  • SMN2 (SMN2....)
  • SMNDC1 (SMNDC1....)
  • SMOC1 (SMOC1....)
  • SMOC2 (SMOC2....)
  • SMPD1 (SMPD1....)
  • SMPX (SMPX....)
  • SMS (SMS....)
  • SMUG1 (SMUG1....)
  • SMYD3 (SMYD3....)
  • SNAI2 (SNAI2....)
  • SNAP29 (SNAP29....)
  • SNAPC4 (SNAPC4....)
  • SNAPC5 (SNAPC5....)
  • SNCA (SNCA....)
  • SNCAIP (SNCAIP....)
  • SNCB (SNCB....)
  • SNIP1 (SNIP1....)
  • SNORD115-1 (SNORD115-1....)
  • SNORD116-1 (SNORD116-1....)
  • SNORD116-10 (SNORD116-10....)
  • SNORD50A (SNORD50A....)
  • SNRK (SNRK....)
  • SNRNP200 (SNRNP200....)
  • SNRPN (SNRPN....)
  • SNTA1 (SNTA1....)
  • SNTG2 (SNTG2....)
  • SNURF (SNURF....)
  • SNX10 (SNX10....)
  • SNX19 (SNX19....)
  • SNX3 (SNX3....)
  • SOBP (SOBP....)
  • SOCS1 (SOCS1....)
  • SOCS3 (SOCS3....)
  • SOD1 (SOD1....)
  • SOD2 (SOD2....)
  • SOD3 (SOD3....)
  • SOGA3 (SOGA3....)
  • SOHLH1 (SOHLH1....)
  • SORBS1 (SORBS1....)
  • SORCS1 (SORCS1....)
  • SORL1 (SORL1....)
  • SORT1 (SORT1....)
  • SOS1 (SOS1....)
  • SOST (SOST....)
  • SOX10 (SOX10....)
  • SOX17 (SOX17....)
  • SOX18 (SOX18....)
  • SOX2 (SOX2....)
  • SOX3 (SOX3....)
  • SOX5 (SOX5....)
  • SOX6 (SOX6....)
  • SOX8 (SOX8....)
  • SOX9 (SOX9....)
  • SP100 (SP100....)
  • SP110 (SP110....)
  • SP7 (SP7....)
  • SP8 (SP8....)
  • SPAG16 (SPAG16....)
  • SPAG17 (SPAG17....)
  • SPANXN5 (SPANXN5....)
  • SPAST (SPAST....)
  • SPATA13 (SPATA13....)
  • SPATA16 (SPATA16....)
  • SPATA21 (SPATA21....)
  • SPATA31C1 (SPATA31C1....)
  • SPATA7 (SPATA7....)
  • SPECC1L (SPECC1L....)
  • SPG11 (SPG11....)
  • SPG20 (SPG20....)
  • SPG21 (SPG21....)
  • SPG7 (SPG7....)
  • SPI1 (SPI1....)
  • SPINK1 (SPINK1....)
  • SPINK5 (SPINK5....)
  • SPINT2 (SPINT2....)
  • SPP1 (SPP1....)
  • SPR (SPR....)
  • SPRED1 (SPRED1....)
  • SPRN (SPRN....)
  • SPRR3 (SPRR3....)
  • SPRY2 (SPRY2....)
  • SPRY3 (SPRY3....)
  • SPTA1 (SPTA1....)
  • SPTAN1 (SPTAN1....)
  • SPTB (SPTB....)
  • SPTBN2 (SPTBN2....)
  • SPTBN5 (SPTBN5....)
  • SPTLC1 (SPTLC1....)
  • SPTLC2 (SPTLC2....)
  • SQSTM1 (SQSTM1....)
  • SRC (SRC....)
  • SRCAP (SRCAP....)
  • SRD5A2 (SRD5A2....)
  • SRD5A3 (SRD5A3....)
  • SREBF1 (SREBF1....)
  • SREBF2 (SREBF2....)
  • SREK1 (SREK1....)
  • SRGAP2 (SRGAP2....)
  • SRGAP3 (SRGAP3....)
  • SRI (SRI....)
  • SRP72 (SRP72....)
  • SRPX (SRPX....)
  • SRPX2 (SRPX2....)
  • SRR (SRR....)
  • SRY (SRY....)
  • SSH1 (SSH1....)
  • SST (SST....)
  • SSTR2 (SSTR2....)
  • SSTR5 (SSTR5....)
  • SSX7 (SSX7....)
  • ST14 (ST14....)
  • ST3GAL3 (ST3GAL3....)
  • ST3GAL5 (ST3GAL5....)
  • ST5 (ST5....)
  • ST7 (ST7....)
  • ST8SIA2 (ST8SIA2....)
  • STAR (STAR....)
  • STAT1 (STAT1....)
  • STAT3 (STAT3....)
  • STAT5B (STAT5B....)
  • STAT6 (STAT6....)
  • STEAP3 (STEAP3....)
  • STEAP4 (STEAP4....)
  • STH (STH....)
  • STIL (STIL....)
  • STIM1 (STIM1....)
  • STK10 (STK10....)
  • STK11 (STK11....)
  • STK19 (STK19....)
  • STK3 (STK3....)
  • STK32A (STK32A....)
  • STK33 (STK33....)
  • STK39 (STK39....)
  • STK4 (STK4....)
  • STMN1 (STMN1....)
  • STOX1 (STOX1....)
  • STRA6 (STRA6....)
  • STRADA (STRADA....)
  • STRC (STRC....)
  • STS (STS....)
  • STX11 (STX11....)
  • STX16 (STX16....)
  • STX1A (STX1A....)
  • STXBP1 (STXBP1....)
  • STXBP2 (STXBP2....)
  • STXBP5 (STXBP5....)
  • SUCLA2 (SUCLA2....)
  • SUCLG1 (SUCLG1....)
  • SUFU (SUFU....)
  • SULF1 (SULF1....)
  • SULT1A1 (SULT1A1....)
  • SULT1A3 (SULT1A3....)
  • SULT1C2 (SULT1C2....)
  • SULT1E1 (SULT1E1....)
  • SULT2A1 (SULT2A1....)
  • SULT2B1 (SULT2B1....)
  • SULT4A1 (SULT4A1....)
  • SUMF1 (SUMF1....)
  • SUMO1 (SUMO1....)
  • SUMO4 (SUMO4....)
  • SUN2 (SUN2....)
  • SUOX (SUOX....)
  • SUPT16H (SUPT16H....)
  • SURF1 (SURF1....)
  • SUV420H1 (SUV420H1....)
  • SV2B (SV2B....)
  • SYCP3 (SYCP3....)
  • SYN1 (SYN1....)
  • SYN3 (SYN3....)
  • SYNE1 (SYNE1....)
  • SYNE2 (SYNE2....)
  • SYNGAP1 (SYNGAP1....)
  • SYNGR1 (SYNGR1....)
  • SYNM (SYNM....)
  • SYNPO (SYNPO....)
  • SYP (SYP....)
  • SYT11 (SYT11....)
  • SYT14 (SYT14....)
  • SYT2 (SYT2....)
  • SYTL3 (SYTL3....)
  • SYTL5 (SYTL5....)
  • Systemic lupus erythematosus 16 (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Schimke immunoosseous dysplasia (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • SCID, autosomal recessive, T-negative/B-positive type (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Severe combined immunodeficiency due to ADA deficiency (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Severe combined immunodeficiency, Athabascan type (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Severe combined immunodeficiency, B cell-negative (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Severe combined immunodeficiency, X-linked (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Shwachman-Diamond syndrome (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Specific granule deficiency (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Surfactant metabolism dysfunction, pulmonary, 4 (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Spondyloenchondrodysplasia with immune dysregulation (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • STING-associated vasculopathy, infantile-onset (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • SERKAL syndrome (RSPO1, WNT4....)
  • Swyer syndrome (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Spermatogenic failure (AURKC, CATSPER1, DPY19L2, KLHL10, NR5A1, SEPT12, SPATA16, SYCP3....)
  • Spermatogenic failure (AURKC, CATSPER1, DPY19L2, KLHL10, NR5A1, SEPT12, SPATA16, SYCP3....)