Pulmonary Alveolar Proteinosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (Human Disease Ontology, DOID_12120)
External Link https://www.disgenet.org/browser/0/1/0/C0034050
Similar Terms
Downloads & Tools

Genes

50 genes associated with the disease Pulmonary Alveolar Proteinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ADA adenosine deaminase
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2
CCR2 chemokine (C-C motif) receptor 2
CD36 CD36 molecule (thrombospondin receptor)
CD40LG CD40 ligand
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEL carboxyl ester lipase
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DMBT1 deleted in malignant brain tumors 1
ENO2 enolase 2 (gamma, neuronal)
FARSB phenylalanyl-tRNA synthetase, beta subunit
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
IFNG interferon, gamma
IL10 interleukin 10
IL17A interleukin 17A
IL17F interleukin 17F
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL22 interleukin 22
IL3 interleukin 3
IL5 interleukin 5
IL6 interleukin 6
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
MARS1 methionyl-tRNA synthetase 1
MUC1 mucin 1, cell surface associated
NPC2 Niemann-Pick disease, type C2
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
PARP9 poly (ADP-ribose) polymerase family, member 9
PPARG peroxisome proliferator-activated receptor gamma
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
SLA2 Src-like-adaptor 2
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC7A6 solute carrier family 7 (amino acid transporter light chain, y+L system), member 6
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SOAT1 sterol O-acyltransferase 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor