ARSA, GAA, GALC, GALNS, GBA, GLA, GLB1, GLB1, GNS, HEXA, HEXB, HGSNAT, IDS, IDUA, LIPA, NAGLU, NPC1, NPC2, SGSH, SMPD1
ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT1B, CPT2, DECR1, ETFA, ETFB, ETFDH, FLAD1, HADH, HADHA, HADHB, SLC22A5, SLC25A20, SLC52A1, SLC52A2, SLC52A3
Lysosomal storage diseases
Genetic disorders of fatty acids metabolism
APC , MSH6 , MLH1 , MSH2 , PMS2 , MUTYH
Hereditary colorectal cancer
PCSK9 , ABCG5 , LIPA , APOB , LDLR , ABCG8 , LDLRAP1
Family hypercholesterolemia
ABCC8, BLK, CEL, FOXP3, G6PC2, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, NKX2-2, PAX4, PDX1, RFX6, SLC16A1, ZFP57
AHCY, ALDH4A1, AMT, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CBS, DBT, DLD, DNAJC12, FAH, GCH1, GCSH, GLDC, GNMT, GSTZ1, HPD, MAT1A, MTHFR, OAT, OTC, PAH, PC, PCBD1, PPM1K, PRODH, PTS, QDPR, SLC25A13, SLC25A15, SLC7A5, SLC7A7, SPR, TAT, UMPS
ABCD4, ACSF3, AMN, CBS, CD320, CUBN, DHFR, FUT2, GIF, HCFC1, LMBRD1, MAT1A, MCEE, MMAA, MMACHC, MMADHC, MTHFD1, MTHFR, MTR, MTRR, MUT, PCCA, PCCB, PRDX1, SLC19A2, SLC46A1, SUCLA2, SUCLG1, TCN1, TCN2, MMAB
ACAD8, ACADSB, ACAT1, AUH, BTD, DNAJC19, ETHE1, GCDH, HIBCH, HLCS, HMGCL, HMGCS1, HMGCS2, IVD, LMBRD1, MCCC1, MCCC2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MUT, OPA3, PCCB, PCCA, SERAC1, SUCLA2, SUGCT, TAZ, TMEM0
Genetic disorders of amino acids metabolism
Genetic disorders of amino acids and vitamin B metabolism
Genetic disorders of organic acids metabolism
IL1RN, IL10RA, IL10RB, LPIN2, MEFV, MVK, NLRP3, NOD2, PLCG2, PSTPIP1, TNFRSF1A
Systemic autoinflammatory diseases
Breast and ovarian cancers
PTEN, RB1, STK11, BMPR1A , CDH1, SMAD4, WT1, TP53
Hereditary tumour syndromes
ASXL1, CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, NPM1, RUNX1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1, ZRSR2, ABL1, JAK2, GATA2
Acute myeloid leukemia and myelodysplastic syndrome