respiratory distress Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002098
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Genes

29 genes associated with the respiratory distress phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
BMPER BMP binding endothelial regulator
CHAT choline O-acetyltransferase
COL2A1 collagen, type II, alpha 1
CPT2 carnitine palmitoyltransferase 2
DMPK dystrophia myotonica-protein kinase
DNAAF3 dynein, axonemal, assembly factor 3
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
GBA glucosidase, beta, acid
IL1RN interleukin 1 receptor antagonist
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
LYRM4 LYR motif containing 4
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MPC1 mitochondrial pyruvate carrier 1
NAGS N-acetylglutamate synthase
NKX2-1 NK2 homeobox 1
ORC1 origin recognition complex, subunit 1
PRRX1 paired related homeobox 1
SFTPB surfactant protein B
SFTPC surfactant protein C
SOX9 SRY (sex determining region Y)-box 9