Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1438
Gene Symbol: CSF2RA
CSF2RA 		0.510 Biomarker disease GENOMICS_ENGLAND GM-CSF-dependent pSTAT5 sensitivity is a feature with therapeutic potential in chronic myelomonocytic leukemia. 23632888 2013
Entrez Id: 1438
Gene Symbol: CSF2RA
CSF2RA 		0.510 GeneticVariation disease BEFREE Consistent with the recessive mode of inheritance, the de novo paternal Xp22.33p22.2 deletion combined to the maternally inherited CSF2RA gene deletion led to homozygous deletion of CSF2RA and PAP diagnosis in the girl. 23918747 2013
Entrez Id: 1438
Gene Symbol: CSF2RA
CSF2RA 		0.510 GermlineCausalMutation disease ORPHANET Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. 18955570 2008
Entrez Id: 4938
Gene Symbol: OAS1
OAS1 		0.300 GermlineCausalMutation disease ORPHANET Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. 29455859 2018
Entrez Id: 1439
Gene Symbol: CSF2RB
CSF2RB 		0.300 GermlineCausalMutation disease ORPHANET Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. 21205713 2011
Entrez Id: 1439
Gene Symbol: CSF2RB
CSF2RB 		0.300 GermlineCausalMutation disease ORPHANET Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. 21075760 2011
Entrez Id: 1437
Gene Symbol: CSF2
CSF2 		0.010 GeneticVariation disease BEFREE Clinical presentation, diagnosis, management and outcome of molecularly defined congenital pulmonary alveolar proteinosis (PAP) due to mutations in the GM-CSF receptor are not well known. 21849033 2011
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB 		0.010 Biomarker disease BEFREE We speculate that the PAP in our patients was related to the reduced quantity and/or to the altered quality of SP-B. 11171752 2001