|
| Entrez Id: |
11154 |
| Gene Symbol: |
AP4S1 |
AP4S1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
|
| 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 |
|
| 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: |
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: |
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: |
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: |
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: |
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 |
|
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: |
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: |
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: |
57551 |
| Gene Symbol: |
TAOK1 |
TAOK1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
|
31230721 |
2019 |
|
| 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: |
8560 |
| Gene Symbol: |
DEGS1 |
DEGS1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
DEGS1 variant causes neurological disorder.
|
31186544 |
2019 |
|
| 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: |
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: |
7343 |
| Gene Symbol: |
UBTF |
UBTF
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
|
28777933 |
2017 |
|
| 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: |
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: |
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: |
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: |
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: |
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: |
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 |