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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.682 0.423
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
nuclear pore associated protein 1 0.670 0.500
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 3653
Gene Symbol: IPW
IPW
imprinted in Prader-Willi syndrome 0.682 0.423
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 7467
Gene Symbol: WHCR
WHCR
Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 50940
Gene Symbol: PDE11A
PDE11A
phosphodiesterase 11A 0.612 0.654 8.7E-37
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2
spectrin repeat containing nuclear envelope protein 2 0.623 0.692 1.7E-25
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
cullin 7 0.633 0.500 2.6E-21
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
collagen type VI alpha 3 chain 0.563 0.769 1.8E-20
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1
prolyl 3-hydroxylase 1 0.736 0.231 2.3E-20
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
SEC23 homolog B, COPII coat complex component 0.579 0.692 6.1E-20
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
cholinergic receptor nicotinic gamma subunit 0.573 0.692 3.3E-19
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype 0.100 None 0 0