Search our Test Catalogue

Contact Us
For assistance with ordering one of our tests call 1-800-1200-695.

Disorder Names

GABA-transaminase deficiency(ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, MECP2, MTHFR, PAH, PCBD1, PHGDH, PNPO, PSPH, PTS, QDPR, SLC46A1, SPR, TH)

Galactokinase deficiency with cataracts(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Galactose epimerase deficiency(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Galactosemia(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Galactosialidosis(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Gamma-glutamylcysteine synthetase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Gangliosidosis(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

GAPO syndrome(ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, EDNRA, ERCC2, ERCC3, FOXN1, GJA1, GJB2, GJB6, GTF2H5, HR, JUP, KRAS, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MAP2K1, MAP2K2, MBTPS2, MPLKIP, OFD1, PKP1, PVRL1, PVRL4, RBM28, RECQL4, RIN2, RMRP, RNF113A, RPL21, SHOC2, SKIV2L, SLC39A4, SMARCA2, SPINK5, ST14, TRPS1, TTC37, TWIST2, VDR, WNT10A)

Gaucher disease(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Geroderma osteodysplasticum(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Giant axonal neuropathy(AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10orf2, CCT5, CD59, CSGALNACT1, CTDP1, DCTN1, DFNB59, DHH, DIAPH3, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GBA, GDAP1, GJB1, GJB3, GLA, GSN, HADHA, HADHB, HARS, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OTOF, PHYH, PLEKHG5, PMP22, PNPLA6, POLG, PRPS1, PRX, RAB7A, REEP1, RPIA, SACS, SBF2, SCN10A, SCN9A, SCP2, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC5A7, SNAP29, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TMEM126A, TRPV4, TTR, TYMP, VCP, VRK1, WNK1, YARS)

Gillessen-Kaesbach-Nishimura syndrome(ALG9, HNF1B, OFD1, PKD1, PKD2, PKHD1, TSC2)

Gitelman syndrome(CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6)

Gitelman syndrome(HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE2, KCNA1, SLC12A3, SLC30A10, SLC39A4, SLC40A1, TFR2, TRPM6)

Glaucoma(ASB10, CYP1B1, LOXL1, LTBP2, MYOC, OPTN, PITX2, WDR36)

Glomerulopathy with fibronectin deposits 2(ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH, CFHR5, COL4A1, CPT2, DHCR7, FGF20, FN1, FREM1, GATA3, GPC3, H19, HSD11B2, IFT140, JAG1, KAT6B, KMT2D, LRP4, MBTPS2, MKKS, NEK8, NIPBL, NOTCH2, NPHP3, NSD1, SALL1, SALL4, SLC17A3, SLC2A9, SPRY2, TMEM138, TMEM216, VIPAS39, VPS33B, WNT4)

Glomerulosclerosis, focal segmental(ACTN4, APOL1, CD2AP, COQ6, INF2*, MYO1E, PAX2, PLCE1, TRPC6)

Glomovenous malformation(ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTPN11, PTPN14, RASA1, SERPING1, TEK)

Glucose/galactose malabsorption(HNF4A, SLC2A2, SLC34A1, SLC5A1, SLC5A2)

Glucose/galactose malabsorption(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

GLUT1 deficiency syndrome(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Glutamate formiminotransferase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Glutamine deficiency, congenital(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Glutaric acidemia(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Glutathione synthetase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Glycerol kinase deficiency(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Glycine encephalopathy(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Glycine N-methyltransferase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Glycogen storage disease(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Goldberg-Shprintzen megacolon syndrome(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Griscelli-Pruniéras syndrome(ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, IKBKG, KIT, KITLG, KRT14, KRT5, LYST, MITF, MLPH, MYO5A, NHP2, NLRP1, NOP10, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, STK11, TERT, TINF2, TYR, TYRP1, WRAP53)

Gardner syndrome(APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53)

Geleophysic dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Genetic inflammatory /rheumatoid-like osteoarthropathies(ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, IL6, KIF22, LPIN2, MATN3, MMP2, NLRP3, PAPSS2, PRG4, PSMB8, SLC26A2, SLCO2A1, SMAD3, TRPV4, WISP3)

Genitopatellar syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Geroderma osteodysplasticum(ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MMP2, NOTCH2, P3H1, PLOD2, PLOD3, PPIB, PYCR1, SERPINF1, SERPINH1, SLC7A7, SP7, TMEM165, VDR, XYLT2)

Ghosal hematodiaphyseal syndrome(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Gillessen-Kaesbach-Nishimura syndrome(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Gnathodiaphyseal dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Gorlin syndrome(PTCH1)

Greenberg skeletal dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Greig cephalopolysyndactyly syndrome(CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3, GREM1, GRIP1, HYLS1, HOXD13, ICK, KIF7, LMBR1, LRP4, MKKS, MKS1, NOG, OFD1, RAB23, RPGRIP1L, SALL1, TMEM216, TMEM67, WDPCP)

G6PC(G6PC)

G6PC2(G6PC2)

G6PC3(G6PC3)

G6PD(G6PD)

GAA(GAA)

GAB2(GAB2)

GABBR1(GABBR1)

GABRA1(GABRA1)

GABRA5(GABRA5)

GABRA6(GABRA6)

GABRB3(GABRB3)

GABRD(GABRD)

GABRG1(GABRG1)

GABRG2(GABRG2)

GABRG3(GABRG3)

GABRR2(GABRR2)

GAD1(GAD1)

GAD2(GAD2)

GADD45B(GADD45B)

GAK(GAK)

GAL3ST3(GAL3ST3)

GALC(GALC)

GALE(GALE)

GALK1(GALK1)

GALNS(GALNS)

GALNT12(GALNT12)

GALNT18(GALNT18)

GALNT2(GALNT2)

GALNT3(GALNT3)

GALNT9(GALNT9)

GALNTL5(GALNTL5)

GALP(GALP)

GALT(GALT)

GAMT(GAMT)

GAN(GAN)

GAP43(GAP43)

GARS(GARS)

GAS1(GAS1)

GAS2L2(GAS2L2)

GAS6(GAS6)

GATA1(GATA1)

GATA2(GATA2)

GATA3(GATA3)

GATA4(GATA4)

GATA6(GATA6)

GATAD1(GATAD1)

GATM(GATM)

GBA(GBA)

GBA3(GBA3)

GBE1(GBE1)

GBGT1(GBGT1)

GC(GC)

GCDH(GCDH)

GCGR(GCGR)

GCH1(GCH1)

GCK(GCK)

GCKR(GCKR)

GCLC(GCLC)

GCLM(GCLM)

GCM2(GCM2)

GCNT2(GCNT2)

GCSH(GCSH)

GDAP1(GDAP1)

GDF1(GDF1)

GDF15(GDF15)

GDF3(GDF3)

GDF5(GDF5)

GDF6(GDF6)

GDF9(GDF9)

GDI1(GDI1)

GDNF(GDNF)

GEMIN2(GEMIN2)

GEMIN4(GEMIN4)

GFAP(GFAP)

GFER(GFER)

GFI1(GFI1)

GFI1B(GFI1B)

GFM1(GFM1)

GFPT1(GFPT1)

GFPT2(GFPT2)

GFRA1(GFRA1)

GGCX(GGCX)

GGH(GGH)

GGT5(GGT5)

GH1(GH1)

GH2(GH2)

GHR(GHR)

GHRH(GHRH)

GHRHR(GHRHR)

GHRL(GHRL)

GHSR(GHSR)

GIF(GIF)

GIGYF2(GIGYF2)

GIMAP8(GIMAP8)

GIP(GIP)

GIPC3(GIPC3)

GIPR(GIPR)

GIT1(GIT1)

GJA1(GJA1)

GJA3(GJA3)

GJA4(GJA4)

GJA5(GJA5)

GJA8(GJA8)

GJB1(GJB1)

GJB2(GJB2)

GJB3(GJB3)

GJB4(GJB4)

GJB6(GJB6)

GJC2(GJC2)

GJC3(GJC3)

GJD2(GJD2)

GK(GK)

GLA(GLA)

GLB1(GLB1)

GLCCI1(GLCCI1)

GLDC(GLDC)

GLE1(GLE1)

GLI1(GLI1)

GLI2(GLI2)

GLI3(GLI3)

GLIS2(GLIS2)

GLIS3(GLIS3)

GLMN(GLMN)

GLO1(GLO1)

GLP1R(GLP1R)

GLRA1(GLRA1)

GLRB(GLRB)

GLRX5(GLRX5)

GLS(GLS)

GLTSCR1(GLTSCR1)

GLUD1(GLUD1)

GLUD2(GLUD2)

GLUL(GLUL)

GLYCTK(GLYCTK)

GM2A(GM2A)

GMIP(GMIP)

GNA14(GNA14)

GNAI2(GNAI2)

GNAQ(GNAQ)

GNAS(GNAS)

GNAS-AS1(GNAS-AS1)

GNAT1(GNAT1)

GNAT2(GNAT2)

GNB1L(GNB1L)

GNB3(GNB3)

GNB5(GNB5)

GNE(GNE)

GNMT(GNMT)

GNPAT(GNPAT)

GNPTAB(GNPTAB)

GNPTG(GNPTG)

GNRH1(GNRH1)

GNRHR(GNRHR)

GNS(GNS)

GOLGA3(GOLGA3)

GOLGA5(GOLGA5)

GON4L(GON4L)

GORAB(GORAB)

GOSR2(GOSR2)

GOT1(GOT1)

GP1BA(GP1BA)

GP1BB(GP1BB)

GP2(GP2)

GP6(GP6)

GP9(GP9)

GPAM(GPAM)

GPANK1(GPANK1)

GPATCH8(GPATCH8)

GPBAR1(GPBAR1)

GPC3(GPC3)

GPC4(GPC4)

GPC6(GPC6)

GPD1(GPD1)

GPD1L(GPD1L)

GPD2(GPD2)

GPHN(GPHN)

GPI(GPI)

GPIHBP1(GPIHBP1)

GPR1(GPR1)

GPR12(GPR12)

GPR139(GPR139)

GPR143(GPR143)

GPR179(GPR179)

GPR33(GPR33)

GPR55(GPR55)

GPR56(GPR56)

GPR68(GPR68)

GPR98(GPR98)

GPS1(GPS1)

GPSM2(GPSM2)

GPT(GPT)

GPX1(GPX1)

GPX4(GPX4)

GRB10(GRB10)

GREM1(GREM1)

GRHL2(GRHL2)

GRHPR(GRHPR)

GRIA3(GRIA3)

GRID1(GRID1)

GRIK1(GRIK1)

GRIK2(GRIK2)

GRIK3(GRIK3)

GRIK4(GRIK4)

GRIN1(GRIN1)

GRIN2A(GRIN2A)

GRIN2B(GRIN2B)

GRIN3A(GRIN3A)

GRIP1(GRIP1)

GRK1(GRK1)

GRK4(GRK4)

GRK5(GRK5)

GRM1(GRM1)

GRM3(GRM3)

GRM5(GRM5)

GRM6(GRM6)

GRM7(GRM7)

GRM8(GRM8)

GRN(GRN)

GRPR(GRPR)

GRXCR1(GRXCR1)

GSC(GSC)

GSDMA(GSDMA)

GSDMB(GSDMB)

GSE1(GSE1)

GSK3B(GSK3B)

GSN(GSN)

GSPT1(GSPT1)

GSPT2(GSPT2)

GSR(GSR)

GSS(GSS)

GSTA1(GSTA1)

GSTA2(GSTA2)

GSTA3(GSTA3)

GSTK1(GSTK1)

GSTM1(GSTM1)

GSTM3(GSTM3)

GSTM4(GSTM4)

GSTO1(GSTO1)

GSTO2(GSTO2)

GSTP1(GSTP1)

GSTT1(GSTT1)

GSTT2(GSTT2)

GSTZ1(GSTZ1)

GTF2E1(GTF2E1)

GTF2H1(GTF2H1)

GTF2H5(GTF2H5)

GTF2IRD1(GTF2IRD1)

GTF2IRD2(GTF2IRD2)

GUCA1A(GUCA1A)

GUCA1B(GUCA1B)

GUCY2C(GUCY2C)

GUCY2D(GUCY2D)

GUSB(GUSB)

GYG1(GYG1)

GYLTL1B(GYLTL1B)

GYPA(GYPA)

GYPB(GYPB)

GYPC(GYPC)

GYPE(GYPE)

GYS1(GYS1)

GYS2(GYS2)

GZMB(GZMB)

Growth hormone insensitivity with immunodeficiency(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Glycogen storage disease Ib(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Griscelli syndrome, type 2(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Glucocorticoid resistance(CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR)

Galactosemia(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)