|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2188
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
FA complementation group F |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
FANCF |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
FAF |
|
Chromosome
Chromosome number
|
11 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11p14.3 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN |
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Fanconi Anemia |
fanconi anemia, Fanconi anemia complementation group F |
rs747622521, rs745495865, rs730880277, rs1479457172, rs730880278, rs753272712, rs104894221, rs587778340, rs1858636931, rs104894222 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Breast Cancer |
Malignant tumor of breast |
N/A |
N/A |
ClinVar |
| hereditary cancer |
Hereditary cancer |
N/A |
N/A |
ClinVar |
| ovarian cancer |
Ovarian cancer |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Anemia Hemolytic |
Associate
|
11167740, 14617007, 16803569 |
| Breast Diseases |
Associate
|
23440494 |
| Breast Neoplasms |
Associate
|
17932744, 22952942, 23440494, 24345874 |
| Carcinogenesis |
Associate
|
14617007 |
| Carcinoma Non Small Cell Lung |
Associate
|
25828518 |
| Carcinoma Squamous Cell |
Associate
|
29617660 |
| Colorectal Neoplasms |
Associate
|
32915143 |
| Fanconi Anemia |
Associate
|
11001585, 11750104, 12239156, 15256425, 16127171, 17082180, 19405097, 29973652, 31288759, 9382107 |
| Fanconi Anemia |
Stimulate
|
23440494 |
| Granulosa Cell Tumor |
Associate
|
15574200 |
| Growth Disorders |
Associate
|
31288759 |
| Hematologic Diseases |
Associate
|
31288759 |
| Hereditary pancreatitis |
Associate
|
28687971 |
| Hyperpigmentation |
Associate
|
31288759 |
| Lung Neoplasms |
Associate
|
26385482, 26438152 |
| Mesothelioma Malignant |
Associate
|
28687356 |
| Microcephaly |
Associate
|
31288759 |
| Neoplasms |
Associate
|
15574200, 18607065, 28687971, 32778095, 32915143 |
| Neoplasms |
Inhibit
|
22315424 |
| Ovarian Neoplasms |
Associate
|
18414472, 22537224, 23440494, 30822218 |
| Pancytopenia |
Associate
|
31288759 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
14617007 |
| Red Cell Aplasia Pure |
Associate
|
29767669 |
| Sleep Deprivation |
Stimulate
|
22952942 |
| Stomach Neoplasms |
Associate
|
24748501 |
|