×
Entrez Id:
134218
Gene Symbol:
DNAJC21
DNAJC21
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
DNAJC21 , which is involved in ribosome biogenesis, was recently linked to bone marrow failure .
29700810
2018
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
2188
Gene Symbol:
FANCF
FANCF
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
55215
Gene Symbol:
FANCI
FANCI
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
134218
Gene Symbol:
DNAJC21
DNAJC21
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Collectively, these findings demonstrate that mutations in DNAJC21 cause a cancer-prone BMF syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit.
27346687
2016
×
Entrez Id:
114803
Gene Symbol:
MYSM1
MYSM1
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Deubiquitinase MYSM1 Regulates Innate Immunity through Inactivation of TRAF3 and TRAF6 Complexes.
26474655
2015
×
Entrez Id:
2188
Gene Symbol:
FANCF
FANCF
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
114803
Gene Symbol:
MYSM1
MYSM1
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
55215
Gene Symbol:
FANCI
FANCI
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
83990
Gene Symbol:
BRIP1
BRIP1
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
134218
Gene Symbol:
DNAJC21
DNAJC21
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.400
Biomarker
phenotype
HPO
×
Entrez Id:
90332
Gene Symbol:
EXOC3L2
EXOC3L2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
30327448
2019
×
Entrez Id:
79728
Gene Symbol:
PALB2
PALB2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
57697
Gene Symbol:
FANCM
FANCM
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
2178
Gene Symbol:
FANCE
FANCE
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
2177
Gene Symbol:
FANCD2
FANCD2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
5889
Gene Symbol:
RAD51C
RAD51C
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
84464
Gene Symbol:
SLX4
SLX4
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
2189
Gene Symbol:
FANCG
FANCG
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
55120
Gene Symbol:
FANCL
FANCL
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
2187
Gene Symbol:
FANCB
FANCB
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620
2017
×
Entrez Id:
2176
Gene Symbol:
FANCC
FANCC
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Discussing and managing hematologic germ line variants.
27881370
2016
×
Entrez Id:
90332
Gene Symbol:
EXOC3L2
EXOC3L2
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Characterizing the morbid genome of ciliopathies.
27894351
2016