Source: HPO

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 0
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: 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: 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: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7038
Gene Symbol: TG
TG 		thyroglobulin 0.480 0.808 2.9E-59
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		pericentrin 0.564 0.808 4.0E-58
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0