Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		0.310 Biomarker group CTD_human X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. 11326334 2001
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A 		0.320 Biomarker group GENOMICS_ENGLAND We further identified four SETD1A LoF carriers among 4,281 children with severe developmental disorders and two more carriers in an independent sample of 5,720 Finnish exomes, both with notable neuropsychiatric phenotypes. 26974950 2016
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.300 Biomarker group CTD_human We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML). 20694012 2010
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.410 Biomarker group CTD_human The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
Entrez Id: 57412
Gene Symbol: AS3MT
AS3MT 		0.300 Biomarker group CTD_human Relation of polymorphism of arsenic metabolism genes to arsenic methylation capacity and developmental delay in preschool children in Taiwan. 28235556 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.410 Biomarker group CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.300 Biomarker group CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 57705
Gene Symbol: WDFY4
WDFY4 		0.300 Biomarker group CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3 		0.300 Biomarker group CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 1108
Gene Symbol: CHD4
CHD4 		0.300 Biomarker group CTD_human Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. 30559488 2019
Entrez Id: 54187
Gene Symbol: NANS
NANS 		0.300 Biomarker group CTD_human NANS-mediated synthesis of sialic acid is required for brain and skeletal development. 27213289 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker group CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665 2007
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP 		0.300 Biomarker group CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		0.300 Biomarker group CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.300 Biomarker group CTD_human Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		0.300 Biomarker group CTD_human Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 17632512 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker group CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.300 Biomarker group CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		0.320 Biomarker group CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.300 Biomarker group CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4 		0.300 Biomarker group CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
Entrez Id: 152330
Gene Symbol: CNTN4
CNTN4 		0.300 Biomarker group CTD_human Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. 15106122 2004
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.300 Biomarker group CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.300 Biomarker group CTD_human De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT 		0.300 Biomarker group CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015