Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 AlteredExpression BEFREE Decreased Gata-6 expression during diaphragmatic development and lung branching morphogenesis may disrupt mesenchymal cell proliferation, causing malformed PPFs and reduced airway branching, thus leading to diaphragmatic defects and pulmonary hypoplasia in the nitrofen-induced CDH model. 29196881

2018
Entrez Id: 8516
Gene Symbol: ITGA8
ITGA8
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 Biomarker BEFREE Decreased expression of Itga3, Itga6, and Itga8 in the pulmonary mesenchyme may lead to disruptions in airway branching morphogenesis, thus contributing to PH in the nitrofen-induced CDH model. 28701000

2018
Entrez Id: 5972
Gene Symbol: REN
REN
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 GeneticVariation BEFREE Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. 21903317

2011
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 AlteredExpression BEFREE Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia. 19853750

2009
Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 Biomarker BEFREE Thus, a deficiency in contractile proteins MLC1a and MLC2 might have a role among the early molecular determinants of lung hypoplasia in the rat model of nitrofen-induced CDH. 17541012

2007
Entrez Id: 5972
Gene Symbol: REN
REN
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 Biomarker HPO

Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 Biomarker HPO

Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 Biomarker HPO

Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 Biomarker HPO

Entrez Id: 8516
Gene Symbol: ITGA8
ITGA8
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.110 Biomarker HPO

Entrez Id: 3977
Gene Symbol: LIFR
LIFR
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 342035
Gene Symbol: GLDN
GLDN
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 80114
Gene Symbol: BICC1
BICC1
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 153241
Gene Symbol: CEP120
CEP120
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 57505
Gene Symbol: AARS2
AARS2
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 8195
Gene Symbol: MKKS
MKKS
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 168667
Gene Symbol: BMPER
BMPER
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO

Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker HPO