Gene |
OMIM (Gene) |
Associated Diseases (OMIM) |
APC |
611731 |
Colorectal cancer, somatic |
Gastric cancer, somatic |
Gastric adenocarcinoma and proximal polyposis of the stomach |
Desmoid disease, hereditary |
Adenomatous polyposis coli |
Gardner syndrome |
Brain tumor-polyposis syndrome 2 |
Hepatoblastoma, somatic |
ATM |
607585 |
Breast cancer, susceptibility to |
Ataxia-telangiectasia |
AXIN2 |
604025 |
Oligodontia-colorectal cancer syndrome |
Colorectal cancer, somatic |
BAP1 |
603089 |
Tumor predisposition syndrome |
Kury-Isidor syndrome |
Uveal melanoma, susceptibility to, 2 |
BARD1 |
601593 |
Breast cancer, susceptibility to |
BLM |
604610 |
Bloom syndrome |
BMPR1A |
601299 |
Polyposis, juvenile intestinal |
Juvenile polyposis syndrome, infantile form |
Polyposis syndrome, hereditary mixed, 2 |
BRCA1 |
113705 |
Breast-ovarian cancer, familial, 1 |
Pancreatic cancer, susceptibility to, 4 |
Fanconi anemia, complementation group S |
BRCA2 |
600185 |
Prostate cancer |
Breast-ovarian cancer, familial, 2 |
Glioblastoma 3 |
Wilms tumor |
Pancreatic cancer 2 |
Breast cancer, male, susceptibility to |
Fanconi anemia, complementation group D1 |
Medulloblastoma |
BRIP1 |
605882 |
Fanconi anemia, complementation group J |
Breast cancer, early-onset, susceptibility to |
CDH1 |
192090 |
Prostate cancer, susceptibility to |
Breast cancer, lobular |
Blepharocheilodontic syndrome 1 |
Ovarian cancer, somatic |
Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate |
Endometrial carcinoma, somatic |
CDK4 |
123829 |
Melanoma, cutaneous malignant, 3 |
CDKN2A |
600160 |
Melanoma and neural system tumor syndrome |
Melanoma-pancreatic cancer syndrome |
Melanoma, cutaneous malignant, 2 |
CHEK2 |
604373 |
Prostate cancer, familial, susceptibility to |
Colorectal cancer, susceptibility to |
Breast cancer, susceptibility to |
Osteosarcoma, somatic |
Li-Fraumeni syndrome |
DICER1 |
606241 |
Pleuropulmonary blastoma |
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors |
GLOW syndrome, somatic mosaic |
Rhabdomyosarcoma, embryonal, 2 |
DIS3L2 |
614184 |
Perlman syndrome |
EPCAM |
185535 |
Colorectal cancer, hereditary nonpolyposis, type 8 |
Diarrhea 5, with tufting enteropathy, congenital |
FANCC |
613899 |
Fanconi anemia, complementation group C |
FH |
136850 |
Fumarase deficiency |
Leiomyomatosis and renal cell cancer |
FLCN |
607273 |
Birt-Hogg-Dube syndrome |
Pneumothorax, primary spontaneous |
Renal carcinoma, chromophobe, somatic |
Colorectal cancer, somatic |
GALNT12 |
610290 |
Colorectal cancer, susceptibility to, 1 |
HOXB13 |
604607 |
Prostate cancer, hereditary, 9 |
KIT |
164920 |
Gastrointestinal stromal tumor, familial |
Germ cell tumors, somatic |
Piebaldism |
Leukemia, acute myeloid, somatic |
Mastocytosis, systemic, somatic |
Mastocytosis, cutaneous |
MC1R |
155555 |
[Skin/hair/eye pigmentation 2, blond hair/fair skin] |
[Skin/hair/eye pigmentation 2, red hair/fair skin] |
Melanoma, cutaneous malignant, 5 |
UV-induced skin damage |
[Analgesia from kappa-opioid receptor agonist, female-specific] |
Albinism, oculocutaneous, type II, modifier of |
MEN1 |
613733 |
Multiple endocrine neoplasia 1 |
MET |
164860 |
Hepatocellular carcinoma, childhood type, somatic |
Deafness, autosomal recessive 97 |
Osteofibrous dysplasia, susceptibility to |
Renal cell carcinoma, papillary, 1, familial and somatic |
Arthrogryposis, distal, type 11 |
MITF |
156845 |
Melanoma, cutaneous malignant, susceptibility to, 8 |
Waardenburg syndrome, type 2A |
Waardenburg syndrome/ocular albinism, digenic |
Tietz albinism-deafness syndrome |
COMMAD syndrome |
MLH1 |
120436 |
Mismatch repair cancer syndrome 1 |
Muir-Torre syndrome |
Colorectal cancer, hereditary nonpolyposis, type 2 |
MLH3 |
604395 |
Colorectal cancer, somatic |
Endometrial cancer, susceptibility to |
Colorectal cancer, hereditary nonpolyposis, type 7 |
MRE11 |
600814 |
Ataxia-telangiectasia-like disorder 1 |
MSH2 |
609309 |
Muir-Torre syndrome |
Colorectal cancer, hereditary nonpolyposis, type 1 |
Mismatch repair cancer syndrome 2 |
MSH3 |
600887 |
Endometrial carcinoma, somatic |
Familial adenomatous polyposis 4 |
MSH6 |
600678 |
Colorectal cancer, hereditary nonpolyposis, type 5 |
Endometrial cancer, familial |
Mismatch repair cancer syndrome 3 |
MUTYH |
604933 |
Adenomas, multiple colorectal |
Gastric cancer, somatic |
NBN |
602667 |
Aplastic anemia |
Leukemia, acute lymphoblastic |
Nijmegen breakage syndrome |
NF1 |
613113 |
Watson syndrome |
Leukemia, juvenile myelomonocytic |
Neurofibromatosis, type 1 |
Neurofibromatosis, familial spinal |
Neurofibromatosis-Noonan syndrome |
NTHL1 |
602656 |
Familial adenomatous polyposis 3 |
PALB2 |
610355 |
Pancreatic cancer, susceptibility to, 3 |
Fanconi anemia, complementation group N |
Breast cancer, susceptibility to |
PMS2 |
600259 |
Colorectal cancer, hereditary nonpolyposis, type 4 |
Mismatch repair cancer syndrome 4 |
POLD1 |
174761 |
Colorectal cancer, susceptibility to, 10 |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
POLE |
174762 |
Colorectal cancer, susceptibility to, 12 |
IMAGE-I syndrome |
FILS syndrome |
POT1 |
606478 |
Melanoma, cutaneous malignant, susceptibility to, 10 |
Glioma susceptibility 9 |
PRSS1 |
276000 |
Pancreatitis, hereditary |
PTCH1 |
601309 |
Basal cell carcinoma, somatic |
Holoprosencephaly 7 |
Basal cell nevus syndrome |
PTEN |
601728 |
Cowden syndrome 1 |
Lhermitte-Duclos syndrome |
Macrocephaly/autism syndrome |
Glioma susceptibility 2 |
Meningioma |
Prostate cancer, somatic |
RAD50 |
604040 |
Nijmegen breakage syndrome-like disorder |
RAD51C |
602774 |
Fanconi anemia, complementation group O |
Breast-ovarian cancer, familial, susceptibility to, 3 |
RAD51D |
602954 |
Breast-ovarian cancer, familial, susceptibility to, 4 |
RET |
164761 |
Hirschsprung disease, susceptibility to, 1 |
Multiple endocrine neoplasia IIA |
Medullary thyroid carcinoma |
Pheochromocytoma |
Multiple endocrine neoplasia IIB |
Hirschsprung disease, protection against |
Central hypoventilation syndrome, congenital |
RNF43 |
612482 |
Sessile serrated polyposis cancer syndrome |
SDHA |
600857 |
Neurodegeneration with ataxia and late-onset optic atrophy |
Cardiomyopathy, dilated, 1GG |
Leigh syndrome |
Mitochondrial respiratory chain complex II deficiency |
Paragangliomas 5 |
SDHAF2 |
613019 |
Paragangliomas 2 |
SDHB |
185470 |
Pheochromocytoma |
Mitochondrial complex II deficiency, nuclear type 4 |
Paragangliomas 4 |
Paraganglioma and gastric stromal sarcoma |
Gastrointestinal stromal tumor |
SDHC |
602413 |
Paraganglioma and gastric stromal sarcoma |
Gastrointestinal stromal tumor |
Paragangliomas 3 |
SDHD |
602690 |
Mitochondrial complex II deficiency |
Paraganglioma and gastric stromal sarcoma |
Paragangliomas 1, with or without deafness |
Mitochondrial complex II deficiency, nuclear type 3 |
Pheochromocytoma |
SMAD4 |
600993 |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
Pancreatic cancer, somatic |
Myhre syndrome |
Polyposis, juvenile intestinal |
SMARCA4 |
603254 |
Coffin-Siris syndrome 4 |
Rhabdoid tumor predisposition syndrome 2 |
STK11 |
602216 |
Peutz-Jeghers syndrome |
Melanoma, malignant, somatic |
Testicular tumor, somatic |
Pancreatic cancer, somatic |
TP53 |
191170 |
Hepatocellular carcinoma, somatic |
Bone marrow failure syndrome 5 |
Basal cell carcinoma 7 |
Nasopharyngeal carcinoma, somatic |
Choroid plexus papilloma |
Glioma susceptibility 1 |
Pancreatic cancer, somatic |
Breast cancer, somatic |
Li-Fraumeni syndrome |
Adrenocortical carcinoma, pediatric |
Osteosarcoma |
Colorectal cancer |
TSC1 |
605284 |
Lymphangioleiomyomatosis |
Focal cortical dysplasia, type II, somatic |
Tuberous sclerosis-1 |
TSC2 |
191092 |
Focal cortical dysplasia, type II, somatic |
Lymphangioleiomyomatosis, somatic |
Tuberous sclerosis-2 |
VHL |
608537 |
Pheochromocytoma |
von Hippel-Lindau syndrome |
Renal cell carcinoma, somatic |
Erythrocytosis, familial, 2 |
WT1 |
607102 |
Denys-Drash syndrome |
Mesothelioma, somatic |
Frasier syndrome |
Meacham syndrome |
Wilms tumor, type 1 |
Nephrotic syndrome, type 4 |
XRCC2 |
600375 |
Spermatogenic failure |
Fanconi anemia, complementation group U |
Premature ovarian failure 17 |
XRCC3 |
600675 |
Breast cancer, susceptibility to |
Melanoma, cutaneous malignant, 6 |