Source: INFERRED

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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.400 moderate 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1855544
Disease: Enlarged metaphyses
Enlarged metaphyses
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1851310
Disease: Aplasia/hypoplasia of the femur
Aplasia/hypoplasia of the femur
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1850658
Disease: Irregular femoral epiphysis
Irregular femoral epiphysis
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1859461
Disease: Femoral bowing
Femoral bowing
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1859460
Disease: Bowed humerus
Bowed humerus
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1859458
Disease: Cleft vertebral arch
Cleft vertebral arch
disease 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1859117
Disease: Recurrent pulmonary infections
Recurrent pulmonary infections
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1857665
Disease: Aplastic clavicles
Aplastic clavicles
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
Short stature, severe disproportionate
phenotype 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.577 0.655
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype 0.100 0 0