×
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3 -Null Background.
25914885 2019
×
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
28866611 2018
×
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
29160006 2018
×
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
28374925 2018
×
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.
28886269 2018
×
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
28755360 2018
×
Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
GeneticVariation
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
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273 2018
×
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
28990276 2018
×
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
Multiple congenital anomalies
0.100
GeneticVariation
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273 2018
×
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987 2018
×
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
29061346 2018
×
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Osteogenesis imperfecta - A clinical update.
28625337 2018
×
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
29136277 2018
×
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
CausalMutation
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
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
28696035 2017