Risk of malignant disease

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
277700 Werner syndrome (WRN) RECQL2 (WRN) premature aging, risk of malignant disease, chromosomal instability, eye or vision problem Werner WRN
614083 Fanconi anemia, complementation group L (FANCL) FANCL skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 43-KD FA-L
FAAP43
PHF9
Fanconi anemia (FA) pathway
600259 hereditary non-polyposis colorectal cancer, TYPE 4 PMS2 gastrointestinal (GI) cancer, risk of malignant disease, CANCER colorectal cancer, hereditary nonpolyposis, type 4 HNPCC4 Fanconi anemia (FA) pathway, mismatch repair (MMR)
218600 Baller-Gerold syndrome RECQL4 (RTS) premature aging, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME
BGS
600258 hereditary non-polyposis colorectal cancer, TYPE 3 PMS1 gastrointestinal (GI) cancer, risk of malignant disease, CANCER colorectal cancer, hereditary nonpolyposis, type 3 HNPCC3
608089 endometrial cancer MSH2, MLH1, MSH6 gastrointestinal (GI) cancer, risk of malignant disease, chromosomal instability Fanconi anemia (FA) pathway, mismatch repair (MMR)
210900 Bloom syndrome RECQL3 (BLM) mental retardation (MR), skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, telangiectasia Bloom–Torre–Machacek syndrome BLM
BL
BLS
Fanconi anemia (FA) pathway, homologous recombination (HR)
613347 pancreatic cancer type 2 BRCA2 (FANCD1) risk of malignant disease, CANCER PNCA2 Fanconi anemia (FA) pathway, homologous recombination (HR)
211980 lung cancer TP53, ERCC6 (CSB) risk of malignant disease, CANCER LNCR nucleotide excision repair (NER), DNA damage response (DDR)
600678 hereditary non-polyposis colorectal cancer, TYPE 5 MSH6 gastrointestinal (GI) cancer, risk of malignant disease, CANCER colorectal cancer, hereditary nonpolyposis, type 5 HNPCC5 mismatch repair (MMR)
603554 Omenn syndrome DCLRE1C (Artemis) risk of malignant disease, skin problem, immunodeficiency RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
non-homologous end-joining (NHEJ)
208900 ataxia-telangiectasia (AT) ATM neurodegenerative disease, blood cell cancer, psychomotor impairment, skeletal abnormalities, risk of malignant disease, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, CANCER, eye or vision problem Louis-Bar syndrome
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
Boder-Sedgwick syndrome
AT
AT1
DNA damage response (DDR)
133239 esophageal squamous cell carcinoma TP53 risk of malignant disease Esophageal cancer ESCC DNA damage response (DDR)
275355 head and neck squamous cell carcinomas TP53 risk of malignant disease HNSCC DNA damage response (DDR)
604395 hereditary non-polyposis colorectal cancer, TYPE 7 (HNPCC7) MLH3 gastrointestinal (GI) cancer, risk of malignant disease, CANCER HNPCC7 mismatch repair (MMR)
606593 LIG4 syndrome LIG4 mental retardation (MR), psychomotor impairment, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sensitivity to radiation, facial anomalies, growth retardation, microcephaly LIG4S
LIG4
non-homologous end-joining (NHEJ)
114500 COLORECTAL CANCER MSH2, MLH1, MLH3, MUTYH, MSH6, PMS2, PMS1, TP53 gastrointestinal (GI) cancer, risk of malignant disease, CANCER CRC Fanconi anemia (FA) pathway, base excision repair (BER), DNA damage response (DDR), mismatch repair (MMR)
609310 hereditary non polyposis colorectal carcinoma, TYPE 2 MLH1 gastrointestinal (GI) cancer, risk of malignant disease, CANCER colorectal cancer, hereditary nonpolyposis, type 2 HNPCC2 Fanconi anemia (FA) pathway, mismatch repair (MMR)
227645 Fanconi anemia, complementation group C (FANCC) FANCC skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI PANCYTOPENIA, TYPE 3 FANCC
FACC
FAC
FA3
Fanconi anemia (FA) pathway
227646 Fanconi anemia, complementation group D2 (FANCD2) FANCD2 skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents FANCONI ANEMIA, COMPLEMENTATION GROUP D
FANCONI PANCYTOPENIA, TYPE 4
FANCD2
FANCD
FACD
FAD2
FA4
Fanconi anemia (FA) pathway
603467 Fanconi anemia, complementation group F (FANCF) FANCF skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCF
FA-F
Fanconi anemia (FA) pathway
127550 dyskeratosis congenita autosomal dominant (ADDKC) TERT (telomerase catalytic subunit), DKC1 blood cell cancer, risk of malignant disease, skin problem, bone marrow failure dyskeratosis congenita Scoggins type telomere maintenance
609265 Li-Fraumeni syndrome-2 CHEK2 (CHK2), TP53 risk of malignant disease, CANCER LFS2 DNA damage response (DDR)
xxx4 T-cell-prolymphocytic leukemia (T-PLL) ATM risk of malignant disease, CANCER, blood cell cancer T-cell chronic lymphocytic leukemia
"knobby" type of T-cell leukemia
T-prolymphocytic leukemia
T-cell lymphocytic leukemia
T-PLL
TPLL
DNA damage response (DDR)
614087 Fanconi anemia, complementation group M (FANCM) FANCM skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FA-M
FAAP250
Fanconi anemia (FA) pathway
613244 hereditary non-polyposis colorectal cancer, TYPE 8 (HNPCC8) MSH2 gastrointestinal (GI) cancer, risk of malignant disease, CANCER colorectal cancer, hereditary nonpolyposis, type 8 HNPCC8 mismatch repair (MMR)
276300 mismatch repair cancer syndrome (MMRCS) MSH2, MLH1, MSH6, PMS2 nervous system (NS) cancer, gastrointestinal (GI) cancer, blood cell cancer, risk of malignant disease, CANCER Turcot syndrome
brain tumor-polyposis syndrome 1
MMR DEFICIENCY
CHILDHOOD CANCER SYNDROM
BTP1 SYNDROME
MMRCS
BTPS1
Fanconi anemia (FA) pathway, mismatch repair (MMR)
278720 xeroderma pigmentosum, complementation group C (XPC) XPC risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer XERODERMA PIGMENTOSUM III
XP, GROUP C
XPC
XPCC
XP3
nucleotide excision repair (NER)
278780 xeroderma pigmentosum, complementation group G (XPG) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer xeroderma pigmentosum VII XPG
XP7
nucleotide excision repair (NER)
251260 Nijmegen breakage syndrome (NBS) NBN (NBS1) microcephaly, risk of malignant disease, chromosomal instability, sensitivity to radiation, growth retardation, immunodeficiency ATAXIA-TELANGIECTASIA VARIANT V1
MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
SEEMANOVA SYNDROME II
NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE
IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY
BERLIN BREAKAGE SYNDROME
ATAXIA-TELANGIECTASIA VARIANT V2
NBS
AT-V1
BBS
AT-V2
homologous recombination (HR)
605724 Fanconi anemia, complementation group D1 (FANCD1) BRCA2 (FANCD1) blood cell cancer, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability Fanconi D1 FANCD1
FAD1
Fanconi anemia (FA) pathway, homologous recombination (HR)
600901 Fanconi anemia, complementation group E (FANCE) FANCE skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCE
FACE
Fanconi anemia (FA) pathway
614082 Fanconi anemia, complementation group G (FANCG) FANCG (XRCC9) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCG
FAG
FA-G
Fanconi anemia (FA) pathway
609054 Fanconi anemia, complementation group J (FANCJ) BACH1/BRIP1 (FANCJ) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCJ
FAJ
FA-J
Fanconi anemia (FA) pathway
114480 breast cancer (BC) BRCA1, BRCA2 (FANCD1), RAD54L, BARD1, ATM, XRCC3, RAD51, FANCN (PALB2), TP53, PPM1D, BACH1/BRIP1 (FANCJ), CHEK2 (CHK2) breast cancer, risk of malignant disease BREAST CANCER, FAMILIAL
BREAST CANCER INCLUDED FAMILIAL MALE
BC Fanconi anemia (FA) pathway, DNA damage response (DDR), homologous recombination (HR)
612555 breast-ovarian cancer familial type 2 (BROVCA2) BRCA2 (FANCD1) blood cell cancer, risk of malignant disease, CANCER, breast cancer Fanconi anemia group D1 protein BROVCA2 Fanconi anemia (FA) pathway, homologous recombination (HR)
300514 Fanconi anemia, complementation group B (FANCB) FANCB skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE 95-KD FANCB
FA-B
FAAP95
FAAP90
FLJ34064
Fanconi anemia (FA) pathway
227650 Fanconi anemia, complementation group A (FANCA) FANCA skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCA GENE FANCA
FA-A
FACA
FAA
Fanconi anemia (FA) pathway
609053 Fanconi anemia, complementation group I (FANCI) FANCI skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure FANCI Fanconi anemia (FA) pathway
176807 prostate cancer CHEK2 (CHK2), BRCA1, RNASEL risk of malignant disease PC Fanconi anemia (FA) pathway, DNA damage response (DDR)
610832 Fanconi anemia, complementation group N (FANCN) FANCN (PALB2) skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure Fanconi N FA-N Fanconi anemia (FA) pathway
268400 Rothmund-Thomson syndrome (RTS) RECQL4 (RTS) telangiectasia, premature aging, skeletal abnormalities, risk of malignant disease, skin problem POIKILODERMA ATROPHICANS AND CATARACT RTS

Last modification date: July 1, 2011