FLG-AS1, FLG antisense RNA 1, 339400

N. diseases: 43; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.100 CausalMutation disease CLINVAR
CUI: C0027092
Disease: Myopia
Myopia 		0.100 CausalMutation disease CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 CausalMutation disease CLINVAR
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 CausalMutation disease CLINVAR
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.100 CausalMutation group CLINVAR
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 CausalMutation phenotype CLINVAR
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 CausalMutation phenotype CLINVAR
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		0.100 CausalMutation disease CLINVAR
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 CausalMutation disease CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		0.100 CausalMutation phenotype CLINVAR
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 CausalMutation phenotype CLINVAR
CUI: C0521525
Disease: Short neck
Short neck 		0.100 CausalMutation phenotype CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation disease CLINVAR
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.100 CausalMutation disease CLINVAR
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.100 CausalMutation phenotype CLINVAR
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.100 CausalMutation phenotype CLINVAR
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.100 CausalMutation phenotype CLINVAR
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C4021978
Disease: Abnormality of salivation
Abnormality of salivation 		0.100 CausalMutation phenotype CLINVAR
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR
CUI: C4748093
Disease: PEELING SKIN SYNDROME 6
PEELING SKIN SYNDROME 6 		0.100 CausalMutation disease CLINVAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920 1966
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 20790920 1966