Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 GeneticVariation phenotype CLINVAR Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. 16823392 2006
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.100 GeneticVariation phenotype CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation phenotype CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004 2010
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.100 GeneticVariation phenotype CLINVAR First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. 17473835 2007
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 GeneticVariation phenotype CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		0.100 GeneticVariation phenotype CLINVAR Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. 10477148 1999
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		0.100 GeneticVariation phenotype CLINVAR An update on the genetics of usher syndrome. 21234346 2011
Entrez Id: 8726
Gene Symbol: EED
EED 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1 		0.100 GeneticVariation phenotype CLINVAR Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. 12786760 2003
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.100 GeneticVariation phenotype CLINVAR Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. 22678713 2012
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		0.100 GeneticVariation phenotype CLINVAR Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784 1997
Entrez Id: 91461
Gene Symbol: PKDCC
PKDCC 		0.100 GeneticVariation phenotype CLINVAR A secreted tyrosine kinase acts in the extracellular environment. 25171405 2014
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B 		0.100 GeneticVariation phenotype CLINVAR Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. 12640453 2003
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation phenotype CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation phenotype CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868 2003
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation phenotype CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405 2007
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 GeneticVariation phenotype CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 GeneticVariation phenotype CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B 		0.100 GeneticVariation phenotype CLINVAR The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia. 21878675 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation phenotype CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892 2007
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.100 GeneticVariation phenotype CLINVAR A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. 28611923 2017
Entrez Id: 91461
Gene Symbol: PKDCC
PKDCC 		0.100 GeneticVariation phenotype CLINVAR The novel protein kinase Vlk is essential for stromal function of mesenchymal cells. 19465597 2009
Entrez Id: 9158
Gene Symbol: FIBP
FIBP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 91461
Gene Symbol: PKDCC
PKDCC 		0.100 GeneticVariation phenotype CLINVAR A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis. 23559552 2013
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		0.100 GeneticVariation phenotype CLINVAR A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. 15286158 2004