Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2 		0.310 Biomarker phenotype GENOMICS_ENGLAND Amino acid uptake by the mammary gland of the lactating ewe. 678219 1978
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		0.310 Biomarker phenotype GENOMICS_ENGLAND Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. 1352015 1992
Entrez Id: 55275
Gene Symbol: VPS53
VPS53 		0.300 Biomarker phenotype GENOMICS_ENGLAND The acute presentation of intestinal nonrotation. 2920088 1989
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. 15331424 2004
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.320 Biomarker phenotype GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.310 Biomarker phenotype GENOMICS_ENGLAND Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 18697827 2008
Entrez Id: 1644
Gene Symbol: DDC
DDC 		0.300 Biomarker phenotype GENOMICS_ENGLAND Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. 19172410 2009
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		0.320 Biomarker phenotype GENOMICS_ENGLAND Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. 23045302 2013
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335 		0.300 Biomarker phenotype GENOMICS_ENGLAND Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. 23178126 2012
Entrez Id: 201595
Gene Symbol: STT3B
STT3B 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
Entrez Id: 3703
Gene Symbol: STT3A
STT3A 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 23842455 2013
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.320 Biomarker phenotype GENOMICS_ENGLAND An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. 24324832 2013
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. 24901367 2014
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. 25552650 2015
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.300 Biomarker phenotype GENOMICS_ENGLAND Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. 26063829 2015
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		0.300 Biomarker phenotype GENOMICS_ENGLAND An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768 2015
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. 26463574 2016
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A 		0.310 Biomarker phenotype GENOMICS_ENGLAND De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features. 26656649 2016
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.310 Biomarker phenotype GENOMICS_ENGLAND Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? 26919706 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.330 Biomarker phenotype GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288 2016
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		0.420 Biomarker phenotype GENOMICS_ENGLAND Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. 27789416 2017
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		0.310 Biomarker phenotype GENOMICS_ENGLAND Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. 27843043 2017
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		0.300 Biomarker phenotype GENOMICS_ENGLAND Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293 2016
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971 2017