Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. 31479441 2019
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9 		0.200 Biomarker disease MGD Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model. 29944857 2018
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		0.200 Biomarker disease MGD A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation. 26804915 2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.200 Biomarker disease MGD Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice. 26273430 2015
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1 		0.200 Biomarker disease MGD Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. 26216965 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.200 Biomarker disease MGD Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. 26216965 2015
Entrez Id: 22858
Gene Symbol: CILK1
CILK1 		0.200 Biomarker disease MGD Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling. 24853502 2014
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1 		0.200 Biomarker disease MGD Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia. 24316073 2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.200 Biomarker disease MGD Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. 23160237 2012
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		0.200 Biomarker disease MGD Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. 21646512 2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.200 Biomarker disease MGD A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome. 17519557 2007
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007
Entrez Id: 57167
Gene Symbol: SALL4
SALL4 		0.200 Biomarker disease MGD A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. 17216607 2007
Entrez Id: 57167
Gene Symbol: SALL4
SALL4 		0.200 Biomarker disease MGD Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. 16380715 2006
Entrez Id: 57167
Gene Symbol: SALL4
SALL4 		0.200 Biomarker disease MGD The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. 16790473 2006
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. 16794820 2006
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. 16170314 2005
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		0.200 Biomarker disease MGD Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. 15772095 2005
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.200 Biomarker disease MGD Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 15322545 2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 15322545 2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. 15539463 2004
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		0.200 Biomarker disease MGD Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. 15539463 2004
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.200 Biomarker disease MGD Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. 15173597 2004
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.200 Biomarker disease MGD