Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker MGD Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. 10587515

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker MGD However, when the copy number of the mutant allele increased from one (Fgfr3(TD/+) to two (Fgfr3(TD/TD), the retardation of bone growth became more severe and showed phenotypes resembling those of achondroplasia patients, characterized by a dramatically reduced proliferation of growth plate cartilage, macrocephaly and shortening of the long bones, which was most pronounced in the femur. 9887329

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker MGD A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. 11181569

2001
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker MGD A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. 10200283

1999
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.210 Biomarker MGD C-type natriuretic peptide (CNP) is a bifurcation factor for sensory neurons. 19805384

2009
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.210 Biomarker MGD The growth of femur and tibia in three genetically distinct chondrodystrophic mutants of the house mouse. 624676

1978
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.210 Biomarker MGD Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. 8314082

1994
Entrez Id: 200734
Gene Symbol: SPRED2
SPRED2
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.210 Biomarker MGD Gene disruption of Spred-2 causes dwarfism. 15946934

2005
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.870 Biomarker MGD

Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2 		0.940 Biomarker MGD AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. 22509403

2012
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2 		0.940 Biomarker MGD Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. 10377453

1999
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2 		0.940 Biomarker MGD Mouse model resources for vision research. 21052544

2011
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 Biomarker MGD Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. 19767295

2009
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 Biomarker MGD A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. 30592498

2018
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2
CUI: C1841721
Disease: ACHROMATOPSIA 4
ACHROMATOPSIA 4 		0.810 Biomarker MGD A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. 23580486

2013
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2
CUI: C1841721
Disease: ACHROMATOPSIA 4
ACHROMATOPSIA 4 		0.810 Biomarker MGD Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. 17065522

2006
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.300 Biomarker MGD

Entrez Id: 25953
Gene Symbol: PNKD
PNKD
CUI: C1719382
Disease: Acquired torsion dystonia
Acquired torsion dystonia 		0.200 Biomarker MGD

Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker MGD Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption. 26627824

2016
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		0.310 Biomarker MGD Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. 28592489

2017
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.980 Biomarker MGD

Entrez Id: 22931
Gene Symbol: RAB18
RAB18
CUI: C0687154
Disease: Acrocephalopolysyndactyly
Acrocephalopolysyndactyly 		0.200 Biomarker MGD A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. 24764192

2014
Entrez Id: 22931
Gene Symbol: RAB18
RAB18
CUI: C0687154
Disease: Acrocephalopolysyndactyly
Acrocephalopolysyndactyly 		0.200 Biomarker MGD ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 25779931

2015
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
CUI: C0687154
Disease: Acrocephalopolysyndactyly
Acrocephalopolysyndactyly 		0.200 Biomarker MGD Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381

2013
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20
CUI: C0687154
Disease: Acrocephalopolysyndactyly
Acrocephalopolysyndactyly 		0.200 Biomarker MGD Production of fertile offspring from genetically infertile male mice. 14757819

2004