Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker MGD

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker MGD K-RasV14I recapitulates Noonan syndrome in mice. 25359213

2014
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker MGD

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker MGD Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. 15273746

2004
Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker MGD

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker MGD Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437

2012
Entrez Id: 23410
Gene Symbol: SIRT3
SIRT3
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		0.200 Biomarker MGD

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		0.200 Biomarker MGD

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		0.200 Biomarker MGD

Entrez Id: 5584
Gene Symbol: PRKCI
PRKCI
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		0.200 Biomarker MGD

Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		0.200 Biomarker MGD

Entrez Id: 1489
Gene Symbol: CTF1
CTF1
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		0.200 Biomarker MGD

Entrez Id: 79661
Gene Symbol: NEIL1
NEIL1
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		0.200 Biomarker MGD

Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		0.200 Biomarker MGD Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. 24499735

2014
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		0.200 Biomarker MGD Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. 24499735

2014
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C0271749
Disease: Abnormality of cortisol-binding globulin
Abnormality of cortisol-binding globulin 		0.200 Biomarker MGD Plasma transcortin influences endocrine and behavioral stress responses in mice. 20022933

2010
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
CUI: C0271749
Disease: Abnormality of cortisol-binding globulin
Abnormality of cortisol-binding globulin 		0.200 Biomarker MGD Hyporesponsiveness to glucocorticoids in mice genetically deficient for the corticosteroid binding globulin. 16980625

2006
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		0.690 Biomarker MGD Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. 26234751

2016
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		0.690 Biomarker MGD Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. 11857796

2002
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
Acampomelic Campomelic Dysplasia 		0.690 Biomarker MGD Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. 11371614

2001
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
CUI: C0265559
Disease: Acheiropodia
Acheiropodia 		0.820 Biomarker MGD Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. 11606546

2001
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 Biomarker MGD The similarities between the skeletal and cellular phenotypes in these mice and those in patients with achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia in humans, suggested that achondrogenesis type 1A may be caused by GMAP-210 deficiency. 20089971

2010
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 Biomarker MGD Role of collagen type II and perlecan in skeletal development. 12814946

2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 Biomarker MGD The role of collagen II and cartilage fibril-associated molecules in skeletal development. 11680679

2001
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1.000 Biomarker MGD Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. 23200862

2012