Source: INFERRED

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: 26224
Gene Symbol: FBXL3
FBXL3
F-box and leucine rich repeat protein 3 0.736 0.462 0.98
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.400 None 1.000 0 0 2015 2015
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.400 strong 1.000 0 0 2018 2018
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.400 strong 1.000 0 0 1998 1998
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.400 strong 1.000 0 3 2017 2017
Entrez Id: 100033413
Gene Symbol: SNORD116-1
SNORD116-1
small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
cadherin 3 0.560 0.615 2.8E-10
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 100144748
Gene Symbol: KLLN
KLLN
killin, p53 regulated DNA replication inhibitor 0.578 0.654 5.1E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 100289211
Gene Symbol: LINC00624
LINC00624
long intergenic non-protein coding RNA 624 1.000 0.077
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 10056
Gene Symbol: FARSB
FARSB
phenylalanyl-tRNA synthetase subunit beta 0.682 0.500 3.3E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 3
Entrez Id: 10076
Gene Symbol: PTPRU
PTPRU
protein tyrosine phosphatase receptor type U 0.581 0.654 0.39
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
PTCHD1 antisense RNA (head to head) 0.839 0.308
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 100996295
Gene Symbol: DNAH17-AS1
DNAH17-AS1
DNAH17 antisense RNA 1 0.931 0.077 8.4E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.682 0.423
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10111
Gene Symbol: RAD50
RAD50
RAD50 double strand break repair protein 0.556 0.808 3.4E-27
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.695 0.577 2.3E-12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 1021
Gene Symbol: CDK6
CDK6
cyclin dependent kinase 6 0.471 0.731 0.98
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10225
Gene Symbol: CD96
CD96
CD96 molecule 0.592 0.692 1.4E-11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0