Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 CausalMutation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.100 GeneticVariation CLINVAR