Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.600 Biomarker GENOMICS_ENGLAND Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. 12794699

2003
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 3039
Gene Symbol: HBA1
HBA1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 10661
Gene Symbol: KLF1
KLF1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.420 Biomarker GENOMICS_ENGLAND Here, we report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compound heterozygosity for Krüppel-like factor 1 (KLF1) gene mutations. 28361594

2016
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.410 Biomarker GENOMICS_ENGLAND Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.410 Biomarker GENOMICS_ENGLAND Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. 24284886

2014
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.400 Biomarker GENOMICS_ENGLAND Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. 11702224

2001
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.400 Biomarker GENOMICS_ENGLAND Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease. 10546100

1999
Entrez Id: 2324
Gene Symbol: FLT4
FLT4
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.320 Biomarker GENOMICS_ENGLAND Because VEGFR3 mutation can cause generalized lymphatic dysfunction and can thus result in hydrops fetalis, VEGFR3 screening should be added to the investigation of cases of hydrops fetalis of an unknown etiology. 16965327

2006
Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.320 Biomarker GENOMICS_ENGLAND Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. 11078474

2000
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. 31136762

2019
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. 31136762

2019
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298

2018
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND Identification of a novel nonsense mutation in the FOXP3 gene in a fetus with hydrops--Expanding the phenotype of IPEX syndrome. 26395338

2016
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. 24164096

2014
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo. 23082226

2012
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND Isolated fetal ascites caused by Wolman disease. 12666227

2003
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker GENOMICS_ENGLAND