Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		0.910 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		0.910 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.790 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.790 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		0.730 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1861456
Disease: Stiff Skin Syndrome
Stiff Skin Syndrome 		0.730 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 Biomarker HPO

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.700 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 		0.700 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		0.650 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2 		0.610 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4016054
Disease: Neonatal Marfan syndrome
Neonatal Marfan syndrome 		0.500 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.450 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.450 Biomarker HPO

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.400 Biomarker HPO

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 Biomarker HPO

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.200 Biomarker HPO

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.200 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		0.200 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.190 Biomarker HPO