Identifiable diseases*: 199
- Vitamin and Mineral Metabolism Deficiencies
- Lung disease
- Endocrine Diseases
- Skeletal Diseases
- Hematological Diseases
- Liver and Gastrointestinal Diseases
- Immunological Diseases
- Neurological diseases
- Kidney Diseases
- Inborn errors of metabolism
- Neoplasms
- Deafness
*You can see the detailed list of diseases in PDF1.
Genes investigated:
ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACADM, ACADVL, ACAT1, ADA, ADAMTS13, AGL, AICDA, AK2, AKR1D1, ALDH7A1, ALDOA, ALDOB, ALPL, AMACR, APOA5, APOC2, AQP2, ARG1, ARSA, ARSB, ASL, ASS1, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, AVPR2, BAAT, BCKDHA, BCKDHB, BCKDK, BCL10, BLNK, BSND, BTD, BTK, CAD, CARD11, CASR, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CDCA8, CFTR, CIC, CIITA, CLCNKA, CLCNKB, CLDN16, CLDN19, COL1A1, COL1A2, CORO1A, CPS1, CPT1A, CPT2, CTNS, CTPS1, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYP11B1, CYP11B2, CYP17A1, CYP27A1, CYP27B1, CYP2R1, CYP7A1, CYP7B1, DBT, DCLRE1C, DDC, DGAT1, DHFR, DLD, DMD, DNAJC12, DNAJC21, DOCK2, DUOX2, DUOXA2, EFL1, ELANE, ETFA, ETFB, ETFDH, ETHE1, F8, F9, FAH, FBP1, FCHO1, FGA, FLAD1, FOLR1, FOXE1, FOXN1, FOXP3, G6PC1, G6PC3, GAA, GALE, GALK1, GALM, GALNS, GALT, GAMT, GATA2, GATM, GBA, GBE1, GBP1, GCDH, GCH1, GCK, GFI1, GGCX, GJB2, GJB6, GLIS3, GLRA1, GLRB, GLUD1, GOT2, GPIHBP1, GUSB, GYS1, GYS2, HADH, HADHA, HADHB, HAX1, HBB, HCFC1, HESX1, HLCS, HMGCL, HMGCS2, HPD, HSD3B2, HSD3B7, HYOU1, IDS, IDUA, IFNGR1, IFNGR2, IGLL1, IGSF1, IKBKB, IL12B, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, IRS4, IVD, IYD, JAGN1, JAK3, KCNJ1, KCNJ11, LAT, LCK, LCT, LHX3, LHX4, LIPA, LMBRD1, LMF1, LPL, MAGT1, MALT1, MAN2B1, MAP3K14, MC2R, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPI, MPL, MPO, MRAP, MTHFR, MTR, MTRR, MTTP, MYD88, MYH9, NAGS, NCF2, NCF4, NEUROG3, NHEJ1, NKX2-1, NKX2-5, NNT, NR0B1, ORAI1, OTC, OTX2, OXCT1, PAH, PAX8, PCBD1, PCCA, PCCB, PCK1, PDXK, PGM1, PHEX, PHGDH, PHKA2, PHKB, PHKG2, PIK3R1, PLPBP, PNP, PNPO, POU1F1, PRF1, PRKDC, PROP1, PSAT1, PSPH, PTPRC, PTS, PYGL, QDPR, RAC2, RAG1, RAG2, RASGRP1, RB1, RFX5, RFXANK, RFXAP, RORC, SAMD9, SBDS, SCNN1A, SCNN1B, SCNN1G, SH2D1A, SI, SLC12A1, SLC16A1, SLC19A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC26A3, SLC26A4, SLC26A7, SLC27A5, SLC2A1, SLC2A2, SLC37A4, SLC39A4, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC5A 5, SLC5A6, SLC6A5, SLC6A6, SLC7A7, SLC7A9, SMN1, SORD, SOX3, SPR, SRP54, STAR, STAT1, STX11, STXBP2, TANGO2, TAP1, TAP2, TAPBP, TAT, TBL1X, TCN2, TFRC, TG, TH, THAP11, THRA, TJP2, TK2, TPK1, TPO, TPP1, TRH, TRHR, TRPM6, TSHB, TSHR, TTPA, TUBB1, UGT1A1, UNC13D, UNG, UROS, USP53, VDR, VKORC1, VPS45, WAS, WIPF1, XIAP, ZAP70, ZNF143.
