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: 100130311
Gene Symbol: C17orf107
C17orf107 		chromosome 17 open reading frame 107 0.821 0.115 6.9E-02
CUI: C4225369
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		disease 0.100 None 0 5
Entrez Id: 100130311
Gene Symbol: C17orf107
C17orf107 		chromosome 17 open reading frame 107 0.821 0.115 6.9E-02
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		disease 0.100 None 0 1
Entrez Id: 100130894
Gene Symbol: VAC14-AS1
VAC14-AS1 		VAC14 antisense RNA 1 1.000
CUI: C4310743
Disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET 		disease 0.100 None 0 1
Entrez Id: 100131208
Gene Symbol: SNAP25-AS1
SNAP25-AS1 		SNAP25 antisense RNA 1 0.861 0.077
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease 0.100 None 0 1
Entrez Id: 100131208
Gene Symbol: SNAP25-AS1
SNAP25-AS1 		SNAP25 antisense RNA 1 0.861 0.077
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy 		disease 0.100 None 0 1
Entrez Id: 100131208
Gene Symbol: SNAP25-AS1
SNAP25-AS1 		SNAP25 antisense RNA 1 0.861 0.077
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype 0.100 None 0 1
Entrez Id: 100131208
Gene Symbol: SNAP25-AS1
SNAP25-AS1 		SNAP25 antisense RNA 1 0.861 0.077
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 100131208
Gene Symbol: SNAP25-AS1
SNAP25-AS1 		SNAP25 antisense RNA 1 0.861 0.077
CUI: C4225364
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18
MYASTHENIC SYNDROME, CONGENITAL, 18 		disease 0.100 None 0 1
Entrez Id: 100131825
Gene Symbol: CADM3-AS1
CADM3-AS1 		CADM3 antisense RNA 1 1.000 0.038
CUI: C2676078
Disease: WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1
WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1 		phenotype 0.100 None 0 1
Entrez Id: 100131825
Gene Symbol: CADM3-AS1
CADM3-AS1 		CADM3 antisense RNA 1 1.000 0.038
CUI: C4017326
Disease: DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE 		phenotype 0.100 None 0 2
Entrez Id: 100131825
Gene Symbol: CADM3-AS1
CADM3-AS1 		CADM3 antisense RNA 1 1.000 0.038
CUI: C4017327
Disease: DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE
DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE 		phenotype 0.100 None 0 1
Entrez Id: 100132116
Gene Symbol: ACTA2-AS1
ACTA2-AS1 		ACTA2 antisense RNA 1 0.769 0.231
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		disease 0.100 None 0 2
Entrez Id: 100132163
Gene Symbol: PHKA2-AS1
PHKA2-AS1 		PHKA2 antisense RNA 1 0.931 0.077
CUI: C2748941
Disease: Glycogen Storage Disease, Type IXA2
Glycogen Storage Disease, Type IXA2 		disease 0.100 None 0 1
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0004096
Disease: Asthma
Asthma 		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: C0017152
Disease: Gastritis
Gastritis 		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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0152020
Disease: Gastroparesis
Gastroparesis 		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: C0232466
Disease: Feeding difficulties
Feeding difficulties 		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: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		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: C0239234
Disease: Low set ears
Low set ears 		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: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		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: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		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: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		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: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 0 2