Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. 28837162

2018
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. 29278735

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. 28185119

2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. 24027083

2013
Entrez Id: 84464
Gene Symbol: SLX4
SLX4
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Mutations of the SLX4 gene in Fanconi anemia. 21240275

2011
Entrez Id: 6229
Gene Symbol: RPS24
RPS24
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. 19773262

2010
Entrez Id: 6231
Gene Symbol: RPS26
RPS26
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 20116044

2010
Entrez Id: 6204
Gene Symbol: RPS10
RPS10
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. 20116044

2010
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 18535205

2008
Entrez Id: 6135
Gene Symbol: RPL11
RPL11
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 19061985

2008
Entrez Id: 6218
Gene Symbol: RPS17
RPS17
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 19061985

2008
Entrez Id: 6201
Gene Symbol: RPS7
RPS7
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 19061985

2008
Entrez Id: 6125
Gene Symbol: RPL5
RPL5
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. 19061985

2008
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Identification of the Fanconi anemia complementation group I gene, FANCI. 17452773

2007
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 17200672

2007
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 16116423

2005
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND X-linked inheritance of Fanconi anemia complementation group B. 15502827

2004
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. 12724401

2003
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. 11239454

2001
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. 10615118

2000
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND The Fanconi anaemia group G gene FANCG is identical with XRCC9. 9806548

1998
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Evidence for at least eight Fanconi anemia genes. 9382107

1997
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Holt-Oram syndrome: a clinical genetic study. 8730285

1996
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. 8896563

1996
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker GENOMICS_ENGLAND Cloning of cDNAs for Fanconi's anaemia by functional complementation. 1574115

1992