|
| Entrez Id: |
23389 |
| Gene Symbol: |
MED13L |
MED13L
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
8364 |
| Gene Symbol: |
H4C3 |
H4C3
|
0.300 |
Biomarker
|
disease |
CTD_human |
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
|
28920961 |
2017 |
|
| Entrez Id: |
10256 |
| Gene Symbol: |
CNKSR1 |
CNKSR1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
2348 |
| Gene Symbol: |
FOLR1 |
FOLR1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
80155 |
| Gene Symbol: |
NAA15 |
NAA15
|
0.300 |
Biomarker
|
disease |
CTD_human |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
|
28191889 |
2017 |
|
| Entrez Id: |
55596 |
| Gene Symbol: |
ZCCHC8 |
ZCCHC8
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
84320 |
| Gene Symbol: |
ACBD6 |
ACBD6
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
84274 |
| Gene Symbol: |
COQ5 |
COQ5
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
5582 |
| Gene Symbol: |
PRKCG |
PRKCG
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
64324 |
| Gene Symbol: |
NSD1 |
NSD1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
|
12807965 |
2003 |
|
| Entrez Id: |
9378 |
| Gene Symbol: |
NRXN1 |
NRXN1
|
0.300 |
Biomarker
|
disease |
CTD_human |
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.
|
18057082 |
2008 |
|
| Entrez Id: |
112476 |
| Gene Symbol: |
PRRT2 |
PRRT2
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
84735 |
| Gene Symbol: |
CNDP1 |
CNDP1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation.
|
4673339 |
1972 |
|
| Entrez Id: |
6834 |
| Gene Symbol: |
SURF1 |
SURF1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
55250 |
| Gene Symbol: |
ELP2 |
ELP2
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
9179 |
| Gene Symbol: |
AP4M1 |
AP4M1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
80781 |
| Gene Symbol: |
COL18A1 |
COL18A1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
8575 |
| Gene Symbol: |
PRKRA |
PRKRA
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
49855 |
| Gene Symbol: |
SCAPER |
SCAPER
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
2593 |
| Gene Symbol: |
GAMT |
GAMT
|
0.300 |
Biomarker
|
disease |
CTD_human |
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
|
15651030 |
2005 |
|
| Entrez Id: |
131669 |
| Gene Symbol: |
UROC1 |
UROC1
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
|
19304569 |
2009 |
|
| Entrez Id: |
11160 |
| Gene Symbol: |
ERLIN2 |
ERLIN2
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
151 |
| Gene Symbol: |
ADRA2B |
ADRA2B
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
|
| Entrez Id: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
0.300 |
Biomarker
|
disease |
CTD_human |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
|
28191889 |
2017 |
|
| Entrez Id: |
116442 |
| Gene Symbol: |
RAB39B |
RAB39B
|
0.300 |
Biomarker
|
disease |
CTD_human |
A de novo paradigm for mental retardation.
|
21076407 |
2010 |