Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.100 CausalMutation group CLINVAR Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background. 25914885 2019
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 CausalMutation group CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009 2018
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 CausalMutation group CLINVAR A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. 29226580 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: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 CausalMutation group CLINVAR Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients. 29160006 2018
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation group CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925 2018
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 CausalMutation group CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403 2018
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3 		0.100 GeneticVariation group CLINVAR Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate. 28886269 2018
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		0.100 CausalMutation group CLINVAR Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. 28755360 2018
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1 		0.100 CausalMutation group CLINVAR A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate. 28140668 2018
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 CausalMutation group CLINVAR Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. 28708278 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5 		0.100 GeneticVariation group CLINVAR Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 28881385 2018
Entrez Id: 894
Gene Symbol: CCND2
CCND2 		0.100 CausalMutation group CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273 2018
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 CausalMutation group CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276 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: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 GeneticVariation group CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273 2018
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 CausalMutation group CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.100 CausalMutation group CLINVAR Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 29061346 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation group CLINVAR A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. 28916840 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: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 CausalMutation group CLINVAR Osteogenesis imperfecta - A clinical update. 28625337 2018
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2 		0.100 CausalMutation group CLINVAR Homozygous XYLT2 variants as a cause of spondyloocular syndrome. 29136277 2018
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 CausalMutation group CLINVAR PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 28327570 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 CausalMutation group CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052 2017
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 CausalMutation group CLINVAR Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 28696035 2017