Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		0.620 Biomarker disease GENOMICS_ENGLAND X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. 26683739 2016
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		0.620 GeneticVariation disease BEFREE X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. 21910217 2011
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		0.620 GermlineCausalMutation disease ORPHANET X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. 21910217 2011
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		0.620 GeneticVariation disease BEFREE To determine if mutations in FANCB, which are known to cause Fanconi anaemia complementation group B, are a cause of X linked VACTERL-H syndrome. 16679491 2006
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		0.620 Biomarker disease GENOMICS_ENGLAND X-linked inheritance of Fanconi anemia complementation group B. 15502827 2004
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		0.620 Biomarker disease CTD_human
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease BEFREE The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation. 24411047 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease GENOMICS_ENGLAND Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 CausalMutation disease CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease GENOMICS_ENGLAND A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease CTD_human A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. 11748304 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease GENOMICS_ENGLAND Multiple hamartoma syndrome (Cowden's disease). 4635800 1972
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.610 GeneticVariation disease CLINVAR
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.410 Biomarker disease BEFREE From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders. 21465648 2011
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.410 CausalMutation disease CLINVAR [Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail]. 2629409 1990
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		0.410 Biomarker disease CTD_human
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		0.010 Biomarker disease BEFREE The clinical findings were consistent with the diagnosis of VACTERL-H. Molecular analysis of PTEN, FANCB, and HOXD13 genes revealed no mutation. 24411047 2013
Entrez Id: 26160
Gene Symbol: IFT172
IFT172 		0.010 GeneticVariation disease BEFREE We propose a model in which mutation of Ift172 results in a specific class of abnormal cilia, causing disrupted Hh signaling while maintaining L-R axis determination, and resulting in the VACTERL-H phenotype. 21653639 2011