Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1954
Gene Symbol: MEGF8
MEGF8
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.820 Biomarker MGD

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.880 Biomarker MGD A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. 11274405

2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.880 Biomarker MGD Brain phenotypes in two FGFR2 mouse models for Apert syndrome. 20077479

2010
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		1.000 Biomarker MGD

Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C2930970
Disease: Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Hunter-Thompson type 		0.810 Biomarker MGD

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.950 Biomarker MGD Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia. 17728275

2008
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.950 Biomarker MGD The Npr2(pwe/pwe) mouse is a model for the human skeletal dysplasia acromesomelic dysplasia, Maroteaux type (AMDM). 23065701

2013
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		0.950 Biomarker MGD Gastrointestinal tract disorder in natriuretic peptide receptor B gene mutant mice. 20616347

2010
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.930 Biomarker MGD Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. 22067542

2011
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
CUI: C0001308
Disease: Acute and subacute liver necrosis (disorder)
Acute and subacute liver necrosis (disorder) 		0.200 Biomarker MGD

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		1.000 Biomarker MGD Acute intermittent porphyria (AIP) is a human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD). 8563760

1996
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.300 Biomarker MGD

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.270 Biomarker MGD

Entrez Id: 4005
Gene Symbol: LMO2
LMO2
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.250 Biomarker MGD

Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.220 Biomarker MGD

Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.210 Biomarker MGD

Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		1.000 Biomarker MGD We have generated an APRT-deficient mouse line by gene targeting, with a phenotype that closely resembled the symptoms of APRT deficiency in man. 8864750

1996
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		1.000 Biomarker MGD Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. 8643571

1996
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		1.000 Biomarker MGD Sequential analysis of kidney stone formation in the Aprt knockout mouse. 11532086

2001
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		1.000 Biomarker MGD Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. 9689017

1998
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		1.000 Biomarker MGD

Entrez Id: 100
Gene Symbol: ADA
ADA
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		0.600 Biomarker MGD

Entrez Id: 56246
Gene Symbol: MRAP
MRAP
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases 		0.200 Biomarker MGD

Entrez Id: 9095
Gene Symbol: TBX19
TBX19
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		0.620 Biomarker MGD Tpit determines alternate fates during pituitary cell differentiation. 12651892

2003
Entrez Id: 6770
Gene Symbol: STAR
STAR
CUI: C0701163
Disease: Adrenogenital disorder
Adrenogenital disorder 		0.200 Biomarker MGD Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. 9326645

1997