×
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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