Diseases

Filter

Click on a column header name to sort

OMIM ID NAME PROTEINS TYPE PATHWAY(S) RELATED
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
nucleotide excision repair (NER)
278700 xeroderma pigmentosum, complementation group A (XPA) XPA neurodegenerative disease
skin problem
sensitivity to radiation
skin cancer
nucleotide excision repair (NER)
158320 Muir-Torre syndrome MSH2, MLH1 skin cancer
CANCER
Fanconi anemia (FA) pathway, mismatch repair (MMR)
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 (FA) pathway
278730 xeroderma pigmentosum, complementation group D (XPD) ERCC2 (XPD) sensitivity to radiation nucleotide excision repair (NER), transcription factors
210600 Seckel syndrome 1 (SCKL1) ATR microcephaly
mental retardation (MR)
facial anomalies
growth retardation
Fanconi anemia (FA) pathway, DNA damage response (DDR)
314390 X-linked VACTERL-H (XVACTERL-H) FANCB skeletal abnormalities
chromosomal instability
Fanconi anemia (FA) pathway
176807 prostate cancer CHEK2 (CHK2), BRCA1, RNASEL risk of malignant disease Fanconi anemia (FA) pathway, DNA damage response (DDR)
611943 RIDDLE syndrome RNF168 mental retardation (MR)
psychomotor impairment
sensitivity to radiation
facial anomalies
immunodeficiency
137215 gastric cancer hereditary diffuse (GCDH) MUTYH gastrointestinal (GI) cancer base excision repair (BER)
607136 spinocerebellar ataxia type 17 (SCA17) TBP psychomotor impairment
eye or vision problem
transcription factors
610333 Aicardi-Goutieres syndrome 4 (AGS4) RNASEH2A psychomotor impairment
microcephaly
mental retardation (MR)
DNA replication
218600 Baller-Gerold syndrome RECQL4 (RTS) premature aging
skeletal abnormalities
risk of malignant disease
skin problem
chromosomal instability
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
DNA damage response (DDR)
604370 breast-ovarian cancer familial type 1 (BROVCA1) BRCA1 breast cancer
CANCER
Fanconi anemia (FA) pathway
xxx B-cell non-Hodgkin lymphomas (B-NHL) ATM CANCER
blood cell cancer
DNA damage response (DDR)
609265 Li-Fraumeni syndrome-2 CHEK2 (CHK2), TP53 risk of malignant disease
CANCER
DNA damage response (DDR)
xxx5 T-cell acute lymphoblastic leukemia (T-ALL) ATM, DNTT (TdT), MLL, TET1 blood cell cancer DNA damage response (DDR), histone modification, non-homologous end-joining (NHEJ)
xxx6 mantle cell lymphoma ATM blood cell cancer DNA damage response (DDR)
xxx4 T-cell-prolymphocytic leukemia (T-PLL) ATM risk of malignant disease
CANCER
blood cell cancer
DNA damage response (DDR)
214150 cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) ERCC6 (CSB) mental retardation (MR)
psychomotor impairment
skeletal abnormalities
eye or vision problem
facial anomalies
growth retardation
cerebro-oculo-facio-skeletal-syndrome (COFS)
nucleotide excision repair (NER)
278760 xeroderma pigmentosum, complementation group F (XPF) ERCC4 (XPF) sensitivity to radiation
chromosomal instability
Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
278750 xeroderma pigmentosum, VARIANT type (XPV) POLη (POLH /RAD30A) skin problem Fanconi anemia (FA) pathway, translesion synthesis (TLS)
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 (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
Fanconi anemia (FA) pathway, DNA damage response (DDR), homologous recombination (HR)
607371 dystonia juvenile-onset (DYTJ) ACTB deafness (hearing impairment) chromatin remodeling
610758 cerebro-oculo-facio-skeletal syndrome 4 (COFS4) ERCC1 microcephaly
neurodegenerative disease
mental retardation (MR)
skeletal abnormalities
eye or vision problem
facial anomalies
growth retardation
cerebro-oculo-facio-skeletal-syndrome (COFS)
Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
604717 deafness autosomal dominant type 20 (DFNA20) ACTG1 deafness (hearing impairment) chromatin remodeling
613029 glioma type 3 BRCA2 (FANCD1) nervous system (NS) cancer Fanconi anemia (FA) pathway, homologous recombination (HR)
259500 osteogenic sarcoma CHEK2 (CHK2), TP53 ocular cancer DNA damage response (DDR)
613347 pancreatic cancer type 2 BRCA2 (FANCD1) risk of malignant disease
CANCER
Fanconi anemia (FA) pathway, homologous recombination (HR)
278800 De Sanctis-Cacchione syndrome (DSC) ERCC6 (CSB) growth retardation
cerebro-oculo-facio-skeletal-syndrome (COFS)
mental retardation (MR)
nucleotide excision repair (NER)
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
Fanconi anemia (FA) pathway
608089 endometrial cancer MSH2, MLH1, MSH6 gastrointestinal (GI) cancer
risk of malignant disease
chromosomal instability
Fanconi anemia (FA) pathway, mismatch repair (MMR)
xxx7 B-cell acute lymphoblastic leukemia (B-ALL) DNTT (TdT), MLL, TET1 blood cell cancer histone modification, non-homologous end-joining (NHEJ)
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
Fanconi anemia (FA) pathway
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 anemia (FA) pathway
266280 RAPADILINO syndrome RECQL4 (RTS) facial anomalies
NO CANCER development
skeletal abnormalities
133239 esophageal squamous cell carcinoma TP53 risk of malignant disease DNA damage response (DDR)
275355 head and neck squamous cell carcinomas TP53 risk of malignant disease DNA damage response (DDR)
260500 choroid plexus papilloma TP53 nervous system (NS) cancer DNA damage response (DDR)
114500 COLORECTAL CANCER MSH2, MLH1, MLH3, MUTYH, MSH6, PMS2, PMS1, TP53 gastrointestinal (GI) cancer
risk of malignant disease
CANCER
Fanconi anemia (FA) pathway, base excision repair (BER), DNA damage response (DDR), mismatch repair (MMR)
208920 early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 (EAOH/AOA1) APTX neurodegenerative disease
psychomotor impairment
NO CANCER development
eye or vision problem
immunodeficiency
216400 Cockayne syndrome, TYPE A ERCC8 (CSA) neurodegenerative disease
mental retardation (MR)
premature aging
skeletal abnormalities
sensitivity to radiation
NO CANCER development
eye or vision problem
nucleotide excision repair (NER)
211980 lung cancer TP53, ERCC6 (CSB) risk of malignant disease
CANCER
nucleotide excision repair (NER), DNA damage response (DDR)
613761 age-related macular degeneration type 5 (ARMD5) ERCC6 (CSB) eye or vision problem nucleotide excision repair (NER)
605724 Fanconi anemia, complementation group D1 (FANCD1) BRCA2 (FANCD1) blood cell cancer
skeletal abnormalities
risk of malignant disease
skin problem
chromosomal instability
Fanconi anemia (FA) pathway, homologous recombination (HR)
610965 XFE progeroid syndrome (XFEPS) ERCC4 (XPF) microcephaly Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
606002 ataxia-oculomotor apraxia 2 (AOA2/SCAR1) SETX neurodegenerative disease
mental retardation (MR)
psychomotor impairment
skeletal abnormalities
eye or vision problem
602433 amyotrophic lateral sclerosis type 4 SETX neurodegenerative disease
604391 ataxia-telangiectasia-like disorder (ATLD) MRE11A sensitivity to radiation
NO CANCER development
chromosomal instability
homologous recombination (HR), non-homologous end-joining (NHEJ)
600630 UV-sensitive syndrome (UVS) ERCC6 (CSB) sensitivity to radiation
NO CANCER development
nucleotide excision repair (NER)
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
Fanconi anemia (FA) pathway, mismatch repair (MMR)
162091 schwannomatosis (SCHWA) SMARCB1 (SNF5) nervous system (NS) cancer
CANCER
chromatin remodeling
612555 breast-ovarian cancer familial type 2 (BROVCA2) BRCA2 (FANCD1) blood cell cancer
risk of malignant disease
CANCER
breast cancer
Fanconi anemia (FA) pathway, homologous recombination (HR)
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
Fanconi anemia (FA) pathway, homologous recombination (HR)
133540 Cockayne syndrome, TYPE B (CSB) ERCC6 (CSB) microcephaly
mental retardation (MR)
psychomotor impairment
sensitivity to radiation
NO CANCER development
eye or vision problem
cerebro-oculo-facio-skeletal-syndrome (COFS)
nucleotide excision repair (NER)
157640 progressive external ophthalmoplegia, autosomal dominant 1 (PEOA1) POLγ (POLG) neurodegenerative disease
eye or vision problem
DNA replication
607426 coenzyme Q10 deficiency (COQ10D) APTX neurodegenerative disease
mental retardation (MR)
603554 Omenn syndrome DCLRE1C (Artemis) risk of malignant disease
skin problem
immunodeficiency
non-homologous end-joining (NHEJ)
203700 mitochondrial DNA depletion syndrome 4A (Alpers type) MTDPS4A POLγ (POLG) neurodegenerative disease DNA replication
609322 rhabdoid tumor predisposition syndrome type 1 (RTPS1) SMARCB1 (SNF5) CANCER chromatin remodeling
609310 hereditary non polyposis colorectal carcinoma, TYPE 2 MLH1 gastrointestinal (GI) cancer
risk of malignant disease
CANCER
Fanconi anemia (FA) pathway, mismatch repair (MMR)
251260 Nijmegen breakage syndrome (NBS) NBN (NBS1) microcephaly
risk of malignant disease
chromosomal instability
sensitivity to radiation
growth retardation
immunodeficiency
homologous recombination (HR)
613662 mitochondrial DNA depletion syndrome 4B (MNGIE type) MTDPS4B POLγ (POLG) psychomotor impairment
eye or vision problem
DNA replication
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
Fanconi anemia (FA) pathway
254500 multiple myeloma (AL), resistance to LIG4 blood cell cancer
chromosomal instability
immunodeficiency
non-homologous end-joining (NHEJ)
600259 hereditary non-polyposis colorectal cancer, TYPE 4 PMS2 gastrointestinal (GI) cancer
risk of malignant disease
CANCER
Fanconi anemia (FA) pathway, mismatch repair (MMR)
600258 hereditary non-polyposis colorectal cancer, TYPE 3 PMS1 gastrointestinal (GI) cancer
risk of malignant disease
CANCER
242900 Schimke immuno-osseous dysplasia (SIOD) SMARCAL1 skeletal abnormalities
immunodeficiency
chromatin remodeling
178500 susceptibility to pulmonary fibrosis idiopathic (IPF) TERT (telomerase catalytic subunit), DKC1 telomere maintenance
607459 mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) POLγ (POLG) psychomotor impairment
neurodegenerative disease
eye or vision problem
DNA replication
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
non-homologous end-joining (NHEJ)
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
Fanconi anemia (FA) pathway
602450 severe combined immunodeficiency, Athabaskan type (SCIDA) DCLRE1C (Artemis), LIG4 immunodeficiency non-homologous end-joining (NHEJ)
600678 hereditary non-polyposis colorectal cancer, TYPE 5 MSH6 gastrointestinal (GI) cancer
risk of malignant disease
CANCER
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 anemia (FA) pathway
613348 pancreatic cancer, susceptibility to, 3 FANCN (PALB2) CANCER 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
Fanconi anemia (FA) pathway
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
Fanconi anemia (FA) pathway
612075 mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) RRM2B neurodegenerative disease modulation of nucleotide pools
137800 glioma susceptibility 1 (GLM1) MGMT direct reversal (DR)
268400 Rothmund-Thomson syndrome (RTS) RECQL4 (RTS) telangiectasia
premature aging
skeletal abnormalities
risk of malignant disease
skin problem
612075 mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B neurodegenerative disease
eye or vision problem
mental retardation (MR)
modulation of nucleotide pools
613077 progressive external ophthalmoplegia, autosomal dominant, with mitochondrial DNA deletions 5 (PEOA5) RRM2B neurodegenerative disease
eye or vision problem
modulation of nucleotide pools
605258 immunodeficiency with hyper-IgM, TYPE 2 AICDA (AID) immunodeficiency
608184 immunodeficiency with hyper-IgM, TYPE 4 AICDA (AID) immunodeficiency
277700 Werner syndrome (WRN) RECQL2 (WRN) premature aging
risk of malignant disease
chromosomal instability
eye or vision problem
602450 severe combined immunodeficiency with radiation sensitivity (RS-SCID) DCLRE1C (Artemis) sensitivity to radiation
immunodeficiency
non-homologous end-joining (NHEJ)
258450 progressive external ophthalmoplegia, autosomal recessive (PEOB) POLγ (POLG) DNA replication
608106 immunodeficiency with hyper-IgM, TYPE 5 (HIGM5) UNG immunodeficiency base excision repair (BER)
609135 aplastic anemia (AA) NBN (NBS1), TERT (telomerase catalytic subunit), DKC1 telomere maintenance, homologous recombination (HR)
256000 Leigh syndrome (LS) POLγ (POLG) neurodegenerative disease DNA replication
312750 Rett syndrome (RTT) MECP2 microcephaly
mental retardation (MR)
heterochromatin formation
242860 immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) DNMT3B facial anomalies
immunodeficiency
DNA replication, heterochromatin formation
105830 Angelman syndrome (AS) MECP2 facial anomalies
mental retardation (MR)
heterochromatin formation
278720 xeroderma pigmentosum, complementation group C (XPC) XPC risk of malignant disease
skin problem
sensitivity to radiation
CANCER
skin cancer
nucleotide excision repair (NER)
300055 mental retardation syndromic X-linked type 13 (MRXS13) MECP2 mental retardation (MR) heterochromatin formation
127550 dyskeratosis congenita autosomal dominant (ADDKC) TERT (telomerase catalytic subunit), DKC1 blood cell cancer
risk of malignant disease
skin problem
bone marrow failure
telomere maintenance
none T-cell non-Hodgkin lymphomas (T-NHL) blood cell cancer
610329 Aicardi-Goutieres syndrome type 3 (AGS3) RNASEH2C microcephaly
mental retardation (MR)
DNA replication
613398 Warsaw breakage syndrome (WBRS) helicase DDX11 (CHLR1) microcephaly
skin problem
chromosomal instability
facial anomalies
growth retardation
deafness (hearing impairment)
DNA replication
278740 xeroderma pigmentosum, complementation group E (XPE) DDB2 (XPE) skin problem nucleotide excision repair (NER)
156200 mental retardation autosomal dominant type 1 (MRD1) MBD5 mental retardation (MR)
608232 chronic myeloid leukemia (CML) CANCER
blood cell cancer
604395 hereditary non-polyposis colorectal cancer, TYPE 7 (HNPCC7) MLH3 gastrointestinal (GI) cancer
risk of malignant disease
CANCER
mismatch repair (MMR)
xxx9 cervical cancer CANCER
613402 microcephaly seizures and development delay (MCSZ) PNKP (PNK) neurodegenerative disease
microcephaly
mental retardation (MR)
613244 hereditary non-polyposis colorectal cancer, TYPE 8 (HNPCC8) MSH2 gastrointestinal (GI) cancer
risk of malignant disease
CANCER
mismatch repair (MMR)
610131 progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) POLG2 deafness (hearing impairment)
eye or vision problem
DNA replication
610651 xeroderma pigmentosum, complementation group B (XPB) ERCC3 (XPB) sensitivity to radiation
skin cancer
nucleotide excision repair (NER), transcription factors
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
Fanconi anemia (FA) pathway
144700 renal cell carcinoma (RCC) hOGG1 CANCER base excision repair (BER)
611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (SCID) NHEJ1 (Cernunnos) microcephaly
neurodegenerative disease
skeletal abnormalities
sensitivity to radiation
growth retardation
immunodeficiency
non-homologous end-joining (NHEJ)
613078 Nijmegen breakage syndrome-like disorder (NBSLD) RAD50 microcephaly
chromosomal instability
sensitivity to radiation
facial anomalies
growth retardation
homologous recombination (HR), non-homologous end-joining (NHEJ)
601675 TrichoThioDystrophy Photosensitive (TTDP) ERCC3 (XPB), ERCC2 (XPD) nucleotide excision repair (NER), transcription factors
120435 hereditary nonpolyposis colorectal cancer, TYPE 1 (HNPCC1), Lynch syndrome I MSH2 gastrointestinal (GI) cancer mismatch repair (MMR)
613972 cutaneous malignant melanoma type 6 (CMM6) XRCC3 skin problem homologous recombination (HR)
607250 spinocerebellar ataxia with axonal neuropathy (SCAN1) TDP1 psychomotor impairment
neurodegenerative disease
base excision repair (BER)
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 (FA) pathway
610756 cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) ERCC2 (XPD) neurodegenerative disease
eye or vision problem
facial anomalies
growth retardation
cerebro-oculo-facio-skeletal-syndrome (COFS)
nucleotide excision repair (NER), transcription factors
610181 Aicardi-Goutieres syndrome type 2 (AGS2) RNASEH2B microcephaly
mental retardation (MR)
DNA replication
612938 growth retardation, developmental delay, coarse facies, and early death (GDFD) FTO mental retardation (MR)
skeletal abnormalities
sexual immaturity
facial anomalies
growth retardation
no OMIM lobular carcinoma in situ (LCIS) MLH1 breast cancer Fanconi anemia (FA) pathway, mismatch repair (MMR)
xxx8 cerebro-oculo-facio-skeletal syndrome 3 (COFS3) ERCC5 (XPG) microcephaly
neurodegenerative disease
mental retardation (MR)
skeletal abnormalities
eye or vision problem
facial anomalies
growth retardation
cerebro-oculo-facio-skeletal-syndrome (COFS)
nucleotide excision repair (NER)
none B-cell chronic lymphocytic leukemia (B-CLL) ATM blood cell cancer DNA damage response (DDR)
194050 Williams-Beuren syndrome (WBS) GTF2I, GTF2IRD1 facial anomalies
mental retardation (MR)
transcription factors
152700 systemic lupus erythematosus (SLE) Ku70 (XRCC6), Ku80 (XRCC5) immunodeficiency non-homologous end-joining (NHEJ)
225750 Aicardi-Goutieres syndrome 1 (AGS1) TREX1 (DNase III) microcephaly
neurodegenerative disease
mental retardation (MR)
skin problem
immunodeficiency
Fanconi anemia (FA) pathway