Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		disease 0.700 None 1.000 20 16 1985 2019
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0013595
Disease: Eczema
Eczema 		disease 0.700 moderate 0.961 1 2 2005 2020
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease 0.500 None 0.972 4 1 2005 2020
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		disease 0.400 None 1.000 1 5 2006 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease 0.200 None 1.000 4 1 2006 2019
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease 0.200 None 0.900 0 1 2005 2019
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype 0.140 None 1.000 0 1 2012 2019
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0041834
Disease: Erythema
Erythema 		phenotype 0.110 None 1.000 4 1 2006 2010
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 6 1 1966 2013
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 6 1 1966 2013
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 6 1 1966 2013
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype 0.100 None 1.000 4 1 2006 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 1 2 2006 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 1 2 2006 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype 0.100 None 1.000 1 1 2006 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.100 None 1.000 1 1 2006 2006
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C4021978
Disease: Abnormality of salivation
Abnormality of salivation 		phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 4
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG 		filaggrin 0.525 0.846 2.9E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1