Source: ALL

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: 513
Gene Symbol: ATP5F1D
ATP5F1D 		ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 3 2018 2018
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B 		transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 4 2019 2019
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		cullin 7 0.633 0.500 2.6E-21
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 1.000 1 5 2019 2019
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