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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		phenotype 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		phenotype 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		disease 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype 0.100 None 0 2
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2
Entrez Id: 100188847
Gene Symbol: MIR1225
MIR1225 		microRNA 1225 0.674 0.423
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease 0.100 None 0 7
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 0.400 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0024528
Disease: Malaise and fatigue
Malaise and fatigue 		phenotype 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases 		group 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0494479
Disease: Other headache syndrome
Other headache syndrome 		disease 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0546817
Disease: Fluid overload
Fluid overload 		disease 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C1367972
Disease: Phlebitis and thrombophlebitis
Phlebitis and thrombophlebitis 		disease 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		disease 0.100 None 0 2
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3 		SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		phenotype 0.100 None 0 1