Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
0.400 GermlineCausalMutation disease ORPHANET Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. 22526350 2012
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
0.400 Biomarker disease HPO
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
0.200 Biomarker disease MGD A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. 23727838 2013
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1
0.200 Biomarker disease MGD
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
0.110 Biomarker disease BEFREE An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
Entrez Id: 55640
Gene Symbol: FLVCR2
FLVCR2
0.110 GeneticVariation disease BEFREE Current literature on FLVCR2 is relatively sparse; identifying additional patients with similar mutations will aid in defining the clinical significance of a gene mutation and the contribution to the etiology of hydranencephaly. 25131804 2015
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
0.110 Biomarker disease HPO
Entrez Id: 55640
Gene Symbol: FLVCR2
FLVCR2
0.110 Biomarker disease HPO
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
0.100 Biomarker disease HPO
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
0.100 GeneticVariation disease CLINVAR
Entrez Id: 27238
Gene Symbol: GPKOW
GPKOW
0.100 Biomarker disease HPO
Entrez Id: 6913
Gene Symbol: TBX15
TBX15
0.100 Biomarker disease HPO
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB
0.100 Biomarker disease HPO
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
0.100 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.010 Biomarker disease BEFREE These data demonstrate that HSPGs are important cellular attachment factors for AKAV and SBV, at least <i>in vitro</i>, to promote virus replication in susceptible cells.<b>IMPORTANCE</b> AKAV and SBV are the etiological agents of arthrogryposis-hydranencephaly syndrome in ruminants, which causes considerable economic losses in the livestock industry. 28539443 2017
Entrez Id: 6383
Gene Symbol: SDC2
SDC2
0.010 Biomarker disease BEFREE These data demonstrate that HSPGs are important cellular attachment factors for AKAV and SBV, at least <i>in vitro</i>, to promote virus replication in susceptible cells.<b>IMPORTANCE</b> AKAV and SBV are the etiological agents of arthrogryposis-hydranencephaly syndrome in ruminants, which causes considerable economic losses in the livestock industry. 28539443 2017
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.010 GeneticVariation disease BEFREE A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. 27677223 2016
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A
0.010 GeneticVariation disease BEFREE TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. 26493046 2015
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.010 GeneticVariation disease BEFREE Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly. 20384723 2010