Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1438
Gene Symbol: CSF2RA
CSF2RA
0.700 Biomarker disease HPO
Entrez Id: 1439
Gene Symbol: CSF2RB
CSF2RB
0.640 Biomarker disease HPO
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.420 GeneticVariation disease CLINVAR
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.420 Biomarker disease HPO
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.300 Biomarker disease HPO
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
0.150 Biomarker disease HPO
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
0.140 CausalMutation disease CLINVAR
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
0.140 Biomarker disease HPO
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
0.140 CausalMutation disease CLINVAR
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
0.120 Biomarker disease HPO
Entrez Id: 1439
Gene Symbol: CSF2RB
CSF2RB
0.640 Biomarker disease MGD Mice deficient for the IL-3/GM-CSF/IL-5 beta c receptor exhibit lung pathology and impaired immune response, while beta IL3 receptor-deficient mice are normal. 7697542 1995
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
0.150 GeneticVariation disease BEFREE We conclude that this mutation is responsible for SP-B deficiency and neonatal alveolar proteinosis in multiple families and speculate that the disorder is more common than was recognized previously. 8163685 1994
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.300 Biomarker disease MGD Involvement of granulocyte-macrophage colony-stimulating factor in pulmonary homeostasis. 8171324 1994
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.300 Biomarker disease MGD Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology. 8202532 1994
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.420 Biomarker disease BEFREE Transgenic mice bearing the SP-C-GM-CSF construct (SP-C-GM+) were bred to GM-/- mice resulting in complete correction of alveolar proteinosis in bitransgenic GM-/-, SP-C-GM+ mice. 8609219 1996
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.300 AlteredExpression disease BEFREE Pulmonary epithelial cell expression of GM-CSF corrects the alveolar proteinosis in GM-CSF-deficient mice. 8609219 1996
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.300 Biomarker disease BEFREE The pulmonary alveolar proteinosis in granulocyte macrophage colony-stimulating factor/interleukins 3/5 beta c receptor-deficient mice is reversed by bone marrow transplantation. 8676086 1996
Entrez Id: 3567
Gene Symbol: IL5
IL5
0.030 Biomarker disease BEFREE Mice mutant for granulocyte macrophage colony-stimulating factor (GM-CSF) or the common receptor component (beta c) for GM-CSF, interleukin (IL)-3, and IL-5 exhibit a lung disorder similar to human pulmonary alveolar proteinosis, a rare disease with congenital, infantile, and adult forms. 8676086 1996
Entrez Id: 1439
Gene Symbol: CSF2RB
CSF2RB
0.640 Biomarker disease MGD Hematopoiesis in mice lacking the entire granulocyte-macrophage colony-stimulating factor/interleukin-3/interleukin-5 functions. 8839836 1996
Entrez Id: 6441
Gene Symbol: SFTPD
SFTPD
0.040 Biomarker disease BEFREE We have purified a previously unknown glycoprotein (designated gp-340) from human bronchioalveolar lung washings from a patient with alveolar proteinosis. gp-340 was identified by its calcium-dependent binding to lung surfactant protein D (SP-D) and by its molecular mass of 340 kDa in the reduced state on SDS-polyacrylamide gel electrophoresis (PAGE). gp-340 was purified from the 10,000 x g pellet of the lavage fluid by ion-exchange and gel permeation chromatography. 9153228 1997
Entrez Id: 1755
Gene Symbol: DMBT1
DMBT1
0.010 Biomarker disease BEFREE We have purified a previously unknown glycoprotein (designated gp-340) from human bronchioalveolar lung washings from a patient with alveolar proteinosis. gp-340 was identified by its calcium-dependent binding to lung surfactant protein D (SP-D) and by its molecular mass of 340 kDa in the reduced state on SDS-polyacrylamide gel electrophoresis (PAGE). gp-340 was purified from the 10,000 x g pellet of the lavage fluid by ion-exchange and gel permeation chromatography. 9153228 1997
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.300 Biomarker disease BEFREE Thus, alveolar macrophages from a PAP lung have deficient GM-CSF production analogous to the GM-CSF knockout mice; in contrast, human cells from a PAP lung have an intact GM-CSF gene. 9412586 1997
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB
0.150 GeneticVariation disease BEFREE An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4. 9682215 1998
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.300 Biomarker disease BEFREE Deficiency of the granulocyte-macrophage colony-stimulating factor (GM-CSF)/interleukin-3 (IL-3)/IL-5 receptors common beta chain (betac) is a cause of fatal respiratory failure. betac deficiency manifests as pulmonary alveolar proteinosis (PAP). 9694696 1998
Entrez Id: 3567
Gene Symbol: IL5
IL5
0.030 Biomarker disease BEFREE Deficiency of the granulocyte-macrophage colony-stimulating factor (GM-CSF)/interleukin-3 (IL-3)/IL-5 receptors common beta chain (betac) is a cause of fatal respiratory failure. betac deficiency manifests as pulmonary alveolar proteinosis (PAP). 9694696 1998