Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 9091
Gene Symbol: PIGQ
PIGQ 		0.400 Biomarker phenotype GENOMICS_ENGLAND PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. 31148362 2019
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: 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: 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: 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: 6942
Gene Symbol: TCF20
TCF20 		0.310 Biomarker phenotype GENOMICS_ENGLAND Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. 30525188 2019
Entrez Id: 2558
Gene Symbol: GABRA5
GABRA5 		0.310 Biomarker phenotype GENOMICS_ENGLAND Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 31056671 2019
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: 2782
Gene Symbol: GNB1
GNB1 		0.310 Biomarker phenotype GENOMICS_ENGLAND Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		0.310 Biomarker phenotype GENOMICS_ENGLAND We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345 2017
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: 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: 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: 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: 26007
Gene Symbol: TKFC
TKFC 		0.300 Biomarker phenotype GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446 2020
Entrez Id: 57551
Gene Symbol: TAOK1
TAOK1 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. 31230721 2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. 31752325 2019
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1 		0.300 Biomarker phenotype GENOMICS_ENGLAND DEGS1 variant causes neurological disorder. 31186544 2019
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8 		0.300 Biomarker phenotype GENOMICS_ENGLAND Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. 31079898 2019
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		0.300 Biomarker phenotype GENOMICS_ENGLAND Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. 28649782 2017
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
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 28636205 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.300 Biomarker phenotype GENOMICS_ENGLAND SPG20 mutation in three siblings with familial hereditary spastic paraplegia. 28679690 2017