Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
0.200 Biomarker MGD 11beta-hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress. 9405715

1997

Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
0.200 Biomarker MGD Improved lipid and lipoprotein profile, hepatic insulin sensitivity, and glucose tolerance in 11beta-hydroxysteroid dehydrogenase type 1 null mice. 11546766

2001

Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
0.200 Biomarker MGD Foetal lung maturation in 11beta-hydroxysteroid dehydrogenase type 1 knockout mice. 12439781

2002

Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
0.200 Biomarker MGD Lack of tissue glucocorticoid reactivation in 11beta -hydroxysteroid dehydrogenase type 1 knockout mice ameliorates age-related learning impairments. 11274359

2001

Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
0.200 Biomarker MGD Novel adipose tissue-mediated resistance to diet-induced visceral obesity in 11 beta-hydroxysteroid dehydrogenase type 1-deficient mice. 15047607

2004

Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
0.200 Biomarker MGD Phenotypic analysis of mice bearing targeted deletions of 11beta-hydroxysteroid dehydrogenases 1 and 2 genes. 11165006

2001

Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
0.800 Biomarker MGD Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. 9689017

1998

Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
0.800 Biomarker MGD Sequential analysis of kidney stone formation in the Aprt knockout mouse. 11532086

2001

Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
0.800 Biomarker MGD Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. 8864750

1996

Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis
0.800 Biomarker MGD Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. 8643571

1996

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
1.000 Biomarker MGD Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition. 27189882

2017

Entrez Id: 2280
Gene Symbol: FKBP1A
FKBP1A
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
0.210 Biomarker MGD Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12. 9461216

1998

Entrez Id: 4232
Gene Symbol: MEST
MEST
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
0.200 Biomarker MGD Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. 9771709

1998

Entrez Id: 4232
Gene Symbol: MEST
MEST
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
0.200 Biomarker MGD Expression of Peg1 (Mest) in the developing mouse heart: involvement in trabeculation. 12242721

2002

Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
0.900 Biomarker MGD A missense mutation in the murine Opa3 gene models human Costeff syndrome. 18222992

2008

Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
0.900 Biomarker MGD To address this, we have characterized the metabolic phenotype of a mouse model for Costeff syndrome, in which a point mutation in the mitochondrial membrane protein Opa3 impairs mitochondrial activity. 22869679

2012

Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyl-tetrahydropterin synthase deficiency
0.900 Biomarker MGD Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. 11517215

2001

Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyl-tetrahydropterin synthase deficiency
0.900 Biomarker MGD Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. 12734191

2003

Entrez Id: 158326
Gene Symbol: FREM1
FREM1
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome
0.200 Biomarker MGD Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. 21931569

2011

Entrez Id: 158326
Gene Symbol: FREM1
FREM1
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome
0.200 Biomarker MGD The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. 15345741

2004

Entrez Id: 158326
Gene Symbol: FREM1
FREM1
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome
0.200 Biomarker MGD Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 21507892

2011

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
0.230 Biomarker MGD Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation. 21041952

2010

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
0.200 Biomarker MGD MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. 21339642

2011

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
0.200 Biomarker MGD New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis. 30898653

2019