Cardiac genes (83) |
|
---|---|
Condition | Gene |
Aortopathy | ACTA2 |
Cardiomyopathy | ACTC1 |
Cardiomyopathy | ACTN2 |
High blood pressure | ACVRL1 |
Hypercholesterolaemia | APOB |
Aortopathy, Arrhythmia | BAG3 |
High blood pressure | BMPR2 |
Arrhythmia, Cardiomyopathy | CACNA1C |
Arrhythmia | CACNB2 |
Arrhythmia | CALM1 |
Arrhythmia | CALM2 |
Arrhythmia | CALM3 |
Arrhythmia | CASQ2 |
High blood pressure | CAV1 |
Cardiomyopathy | CAV3 |
Vasular Ehlers-Danlos syndrome | COL3A1 |
Classic Ehlers-Danlos Syndrome | COL5A2 |
Ehlers-Danlos syndrome, classic type, 3 | COL5A2 |
Cardiomyopathy | CRYAB |
Cardiomyopathy | CSRP3 |
Arrhythmia, Cardiomyopathy | DES |
Cardiomyopathy | DMD |
Arrhythmia, Cardiomyopathy | DSC2 |
Arrhythmia, Cardiomyopathy | DSG2 |
Arrhythmia, Cardiomyopathy | DSP |
Arrhythmia, Cardiomyopathy | EMD |
High blood pressure | ENG |
Thrombophilia | F2 |
Thrombophilia | F5 |
Haemophilia | F9 |
Aortopathy | FBN1 |
Cardiomyopathy | FHL1 |
Arrhythmia, Cardiomyopathy | FLNC |
Arrhythmia, Cardiomyopathy | GDF2 |
High blood pressure | GLA |
Cardiomyopathy | GPD1L |
Arrhythmia | HCN4 |
Arrhythmia, Cardiomyopathy | JUP |
Arrhythmia | KCNE1 |
Arrhythmia | KCNE2 |
Arrhythmia | KCNH2 |
Arrhythmia | KCNJ2 |
Arrhythmia | KCNQ1 |
Cardiomyopathy | LAMP2 |
Hypercholesterolaemia | LDLR |
Hypercholesterolaemia | LDLRAP1 |
Arrhythmia, Cardiomyopathy | LMNA |
Cardiomyopathy | MYBPC3 |
Aortopathy | MYH11 |
Cardiomyopathy | MYH7 |
Cardiomyopathy | MYL2 |
Cardiomyopathy | MYL3 |
Cardiomyopathy | MYLK |
Cardiomyopathy | NKX2-5 |
Hypercholesterolaemia | PCSK9 |
Arrhythmia, Cardiomyopathy | PKP2 |
Arrhythmia, Cardiomyopathy | PLN |
Arrhythmia, Cardiomyopathy | PRKAG2 |
Aortopathy | PRKG1 |
Thrombophilia | PROC |
Thrombophilia | PROS1 |
Cardiomyopathy | RBM20 |
Arrhythmia, Cardiomyopathy | RYR2 |
Arrhythmia, Cardiomyopathy | SCN5A |
High blood pressure | SERPINC1 |
Cardiomyopathy | SGCD |
Aortopathy | SMAD3 |
Aortopathy, High blood pressure | SMAD4 |
Pulmonary hypertension, primary, 2 | SMAD9 |
Cardiomyopathy | TCAP |
Aortopathy | TGFB2 |
Aortopathy | TGFB3 |
Aortopathy | TGFBR1 |
Aortopathy | TGFBR2 |
Cardiomyopathy | TMEM43 |
Cardiomyopathy | TNNC1 |
Cardiomyopathy | TNNI3 |
Cardiomyopathy | TNNT2 |
Cardiomyopathy | TPM1 |
Catecholaminergic Polymorphic Ventricular Tachycardia | TRDN |
TTN-cardiomyopathy | TTN* |
TTR-cardiomyopathy - Hereditary Transthyretin Amyloidosis | TTR |
Cardiomyopathy | VCL |
Cancer genes (65) |
|
---|---|
Condition | Gene |
Pituitary adenomas | AIP |
Colorectal, endocrine, gastric, nervous system/brain, and pancreatic cancer, sarcoma | APC |
Breast, pancreatic, and prostate cancer | ATM |
Colorectal cancer | AXIN2 |
Renal/urinary tract cancer, melanoma | BAP1 |
Breast cancer | BARD1 |
Colorectal, gastric, and pancreatic cancer | BMPR1A |
Breast, gynecologic, pancreatic, and prostate cancer | BRCA1 |
Breast, gynecologic, pancreatic, and prostate cancer, melanoma | BRCA2 |
Breast and gynecologic cancer | BRIP1 |
Endocrine and renal/urinary tract cancer | CDC73 |
Breast, colorectal, and gastric cancer | CDH1 |
Melanoma | CDK4 |
Prostate | CDKN1B |
Nervous system/brain and pancreatic cancer, melanoma | CDKN2A |
Breast, colorectal, endocrine, gynecologic, and prostate cancer | CHEK2 |
Endocrine, gynecologic, nervous system/brain, and renal/urinary tract cancer, sarcoma | DICER1 |
Lung cancer | EGFR |
Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer | EPCAM |
Renal/urinary tract cancer, sarcoma | FH |
Renal/urinary tract cancer | FLCN |
Colorectal cancer | GREM1 |
Prostate cancer | HOXB13 |
Gastric cancer, sarcoma | KIT |
Schwannomatosis | LZTR1 |
Endorcrine cancer | MAX |
Endocrine, nervous system/brain, and pancreatic cancer | MEN1 |
Renal/urinary tract cancer | MET |
Melanoma | MITF |
Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer | MLH1 |
Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer | MSH2 |
Colorectal cancer, includes reporting of carrier status | MSH3 |
Colorectal, gastric, gynecologic, nervous system/ brain, pancreatic, prostate, and renal/urinary tract cancer | MSH6 |
Colorectal cancer | MUTYH |
Breast, endocrine, gastric, and nervous system/brain cancer | NF1 |
Nervous system/brain cancer | NF2 |
Colorectal cancer, includes reporting of carrier status | NTHL1 |
Breast and pancreatic cancer | PALB2 |
Gastric cancer, sarcoma | PDGFRA |
Colorectal, gastric, gynecologic, nervous system/brain, pancreatic, prostate, and renal/urinary tract cancer | PMS2 |
Colorectal cancer | POLD1 |
Colorectal cancer | POLE |
Melanoma, leukaemia | POT1 |
Endocrine and nervous system/brain cancer, sarcoma | PRKAR1A |
Nervous system/brain and skin cancer, sarcoma | PTCH1 |
Breast, colorectal, endocrine, gynecologic, nervous system/brain and, renal/urinary tract cancer, melanoma | PTEN |
Breast and gynecologic cancer | RAD51C |
Breast and gynecologic cancer | RAD51D |
Melanoma, retinoblastoma, sarcoma | RB1 |
Endocrine cancer | RET |
Endocrine and gastric cancer, sarcoma | SDHA |
Endocrine cancer | SDHAF2 |
Endocrine, gastric, and renal/urinary tract cancer, sarcoma | SDHB |
Endocrine, gastric, and renal/urinary tract cancer, sarcoma | SDHC |
Endocrine, gastric, and renal/urinary tract cancer, sarcoma | SDHD |
Colorectal, gastric, and pancreatic cancer | SMAD4 |
Gynecologic cancer | SMARCA4 |
Nervous system/brain and renal/urinary tract cancer | SMARCB1 |
Breast, colorectal, gastric, gynecologic, and pancreatic cancer | STK11 |
Endocrine cancer | TMEM127 |
Breast, endocrine, gastrointestinal, genitourinary, gynecologic, hematologic, nervous system/brain, and skin cancer, sarcoma | TP53 |
Nervous system/brain, pancreatic, and renal/urinary tract cancer | TSC1 |
Nervous system/brain, pancreatic, and renal/urinary tract cancer | TSC2 |
Endocrine, nervous system/brain, pancreatic, and renal/urinary tract cancer | VHL |
Renal/urinary tract cancer | WT1 |
Other genes (19) |
|
---|---|
Condition | Gene |
X-Linked Adrenoleukodystrophy | ABCD1 |
Biotinidase deficiency | BTD |
Glycogen storage disease - Pompe disease | GAA |
Dystonia | GCH1 |
Acute intermittent porphyria | HMBS |
Monogenic diabetes MODYIII | HNF1A |
MODY5 | HNF1B |
Familial Mediterranean Fever | MEFV |
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy | RPE65 |
Wilson disease/Parkinson disease risk | ATP7B |
Hypokalemic periodic paralysis (Malignant hyperthermia) | CACNA1S |
Hemochromatosis type 2 | HAMP |
Hemochromatosis | HFE |
Hemochromatosis type 2A | HJV |
Hemochromatosis type 4 | SLC40A1 |
Hemochromatosis type 3 | TFR2 |
Central core disease (CCD) (Malignant hyperthermia) | RYR1 |
Alpha-1antitrypsin deficiency (AATD) | SERPINA1 |
Ornithine transcarbamylase deficiency | OTC |