Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.300 Biomarker group CTD_human Hereditary vitamin D-resistant rickets in Greek children: genotype, phenotype, and long-term response to treatment. 17451081 2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.100 CausalMutation group CLINVAR Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. 28390077 2018
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
0.100 CausalMutation group CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848 2018
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
0.100 GeneticVariation group CLINVAR A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). 29180260 2018
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
0.100 CausalMutation group CLINVAR Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. 28898540 2018
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
0.100 GeneticVariation group CLINVAR GLI3-related polydactyly: a review. 28224613 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA
0.100 GeneticVariation group CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892 2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 GeneticVariation group CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767 2018
Entrez Id: 55750
Gene Symbol: AGK
AGK
0.100 CausalMutation group CLINVAR Mutation in the AGK gene in two siblings with unusual Sengers syndrome. 28868593 2018
Entrez Id: 894
Gene Symbol: CCND2
CCND2
0.100 GeneticVariation group CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273 2018
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
0.100 GeneticVariation group CLINVAR A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2018
Entrez Id: 5813
Gene Symbol: PURA
PURA
0.100 GeneticVariation group CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.100 GeneticVariation group CLINVAR Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. 28256214 2018
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
0.100 CausalMutation group CLINVAR A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. 28975623 2018
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
0.100 CausalMutation group CLINVAR Molecular and clinical spectra of FBXL4 deficiency. 28940506 2018
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
0.100 CausalMutation group CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200 2018
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
0.100 CausalMutation group CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.100 GeneticVariation group CLINVAR Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. 28446513 2018
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
0.100 GeneticVariation group CLINVAR Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 28884921 2018
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
0.100 GeneticVariation group CLINVAR Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. 28940190 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
0.100 GeneticVariation group CLINVAR Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 28866611 2018
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
0.100 CausalMutation group CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846 2018
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
0.100 CausalMutation group CLINVAR Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. 28383543 2018
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.100 CausalMutation group CLINVAR GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 28377535 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
0.100 CausalMutation group CLINVAR Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. 28295206 2018