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: 100033413
Gene Symbol: SNORD116-1
SNORD116-1
small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 2
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 3
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 0.656 0.577
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
nuclear pore associated protein 1 0.670 0.500
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 2464
Gene Symbol: FRA16E
FRA16E
fragile site, distamycin A type, rare, fra(16)(p12.1) 0.931 0.077
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 0.494 0.923
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 338433
Gene Symbol: SNORD115-1
SNORD115-1
small nucleolar RNA, C/D box 115-1 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1
Entrez Id: 3653
Gene Symbol: IPW
IPW
imprinted in Prader-Willi syndrome 0.682 0.423
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 4536
Gene Symbol: ND2
ND2
MTND2 0.601 0.615
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3
NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 4570
Gene Symbol: TRNN
TRNN
tRNA 0.682 0.577
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 0.555 0.808
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 0.670 0.538
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118
small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 7467
Gene Symbol: WHCR
WHCR
Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 791114
Gene Symbol: PWRN1
PWRN1
Prader-Willi region non-protein coding RNA 1 0.670 0.500
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 93654
Gene Symbol: ST7-AS2
ST7-AS2
ST7 antisense RNA 2 0.931 0.038
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 1