Atkin syndrome
|
0.600 |
Biomarker
|
disease |
CLINGEN |
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.
|
28576939 |
2017 |
Atkin syndrome
|
0.600 |
Biomarker
|
disease |
CLINGEN |
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
|
24680889 |
2014 |
Atkin syndrome
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
|
19012350 |
2008 |
Atkin syndrome
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
|
18801879 |
2008 |
Atkin syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
|
19012350 |
2008 |
Atkin syndrome
|
0.600 |
Biomarker
|
disease |
CLINGEN |
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
|
16470793 |
2006 |
Atkin syndrome
|
0.600 |
Biomarker
|
disease |
CLINGEN |
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
|
10471494 |
1999 |
Atkin syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Mental Retardation, X-Linked
|
0.580 |
Biomarker
|
disease |
BEFREE |
Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) is associated with X-linked mental retardation and autism spectrum disorder.
|
23785489 |
2013 |
Mental Retardation, X-Linked
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the Interleukin-1-receptor accessory protein like 1 (IL1RAPL1) gene are associated with cognitive impairment ranging from non-syndromic X-linked mental retardation to autism.
|
21926414 |
2011 |
Mental Retardation, X-Linked
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR.
|
21384559 |
2011 |
Mental Retardation, X-Linked
|
0.580 |
Biomarker
|
disease |
LHGDN |
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
|
19012350 |
2008 |
Mental Retardation, X-Linked
|
0.580 |
Biomarker
|
disease |
CTD_human |
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
|
18801879 |
2008 |
Mental Retardation, X-Linked
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
|
19012350 |
2008 |
Mental Retardation, X-Linked
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
In humans, alterations in IL1RAPL1 cause X-linked mental retardation and loss of WWOX is associated with Tau phosphorylation.
|
16221525 |
2006 |
Mental Retardation, X-Linked
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
|
16470793 |
2006 |
Mental Retardation, X-Linked
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
IL1RAPL1 (interleukin-1 receptor accessory protein-like, gene 1) has recently been shown to be mutated in patients with X-linked mental retardation.
|
15300857 |
2004 |
Mental Retardation, X-Linked
|
0.580 |
GeneticVariation
|
disease |
BEFREE |
Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22.
|
1605217 |
1992 |
Mental Retardation, X-Linked
|
0.580 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Autistic Disorder
|
0.460 |
Biomarker
|
disease |
BEFREE |
IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway.
|
23785489 |
2013 |
Autistic Disorder
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the Interleukin-1-receptor accessory protein like 1 (IL1RAPL1) gene are associated with cognitive impairment ranging from non-syndromic X-linked mental retardation to autism.
|
21926414 |
2011 |
Autistic Disorder
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR.
|
21384559 |
2011 |
Autistic Disorder
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism.
|
20437600 |
2010 |
Autistic Disorder
|
0.460 |
Biomarker
|
disease |
CTD_human |
Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism.
|
20437600 |
2010 |
Autistic Disorder
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Mutations in IL1RAPL1 have recently been associated with autism spectrum disorders and a missense mutation (R102Q) on NCS-1 has been found in one individual with autism.
|
20479890 |
2010 |