Condition: Polyhydramnios
rs121913348
in
BRAF
gene and
Polyhydramnios
PMID 18413255
2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs1554333853
in
CDK13
gene and
Polyhydramnios
PMID 28807008
2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
rs779027563
in
CNTNAP1
gene and
Polyhydramnios
PMID 27668699
2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
rs1034395178
in
LZTR1
gene and
Polyhydramnios
PMID 29469822
2018 Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
rs80338796
in
RAF1
gene and
Polyhydramnios
PMID 17603483
2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
PMID 17603482
2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.