Property Summary

NCBI Gene PubMed Count 106
PubMed Score 203.18
PubTator Score 159.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of cells of the lymphoid lineage 2
Anemia, Hemolytic 55
Anus, Imperforate 46
Autoimmune Diseases 67
Autoimmune thrombocytopenia 22
Autosomal recessive predisposition 1442
Brachycephaly 88
Broad cranium shape 88
Bronchiectasis 64
Chronic otitis media 52
Conjunctivitis 53
Conjunctivitis, recurrent 37
Decreased IgM 11
Decreased antibody level in blood 35
Diarrhea 253
Elevated hepatic transaminases 81
Gastrointestinal infection 4
Hepatic enzyme increased 81
Hepatomegaly 285
Hypogammaglobulinemia 35
IMMUNODEFICIENCY, COMMON VARIABLE, 2 1
Idiopathic thrombocytopenia 22
IgG Deficiency 22
Immune thrombocytopenic purpura 24
Immunoglobulin A deficiency (disorder) 19
Immunologic Deficiency Syndromes 113
Impaired T cell function 14
Increased susceptibility to bacterial infections 42
Infectious disease of lung 29
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Lymphadenopathy 62
Lymphoma 81
Lymphopenia 67
Meningitis 67
Multiple pulmonary infections 29
Pneumonia 174
Prone to bacterial infection 42
Purpura 43
Recurrent bacterial infection 42
Recurrent bronchitis 23
Recurrent gastrointestinal infections 4
Recurrent otitis media 42
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Recurrent sinopulmonary infections 6
Recurrent sinus disease 22
Recurrent sinusitis 22
Splenomegaly 190
Subclinical abnormal liver function tests 81
Transaminases increased 81
Wide skull shape 88
ear infection chronic 52
Disease Target Count P-value
ovarian cancer 8520 1.3e-05
diabetes mellitus 1728 1.3e-03
Waldenstrons macroglobulinemia 765 1.6e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count
Common variable immunodeficiency 2 4

Expression

  Differential Expression (3)

Disease log2 FC p
diabetes mellitus 1.500 1.3e-03
ovarian cancer -1.400 1.3e-05
Waldenstrons macroglobulinemia 1.216 1.6e-03

 GO Function (1)

Gene RIF (95)

AA Sequence

MSGLGRSRRGGRSRVDQEERFPQGLWTGVAMRSCPEEQYWDPLLGTCMSCKTICNHQSQRTCAAFCRSLS      1 - 70
CRKEQGKFYDHLLRDCISCASICGQHPKQCAYFCENKLRSPVNLPPELRRQRSGEVENNSDNSGRYQGLE     71 - 140
HRGSEASPALPGLKLSADQVALVYSTLGLCLCAVLCCFLVAVACFLKKRGDPCSCQPRSRPRQSPAKSSQ    141 - 210
DHAMEAGSPVSTSPEPVETCSFCFPECRAPTQESAVTPGTPDPTCAGRWGCHTRTTVLQPCPHIPDSGLG    211 - 280
IVCVPAQEGGPGA                                                             281 - 293
//

Text Mined References (108)

PMID Year Title