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: 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
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10283
Gene Symbol: CWC27
CWC27
CWC27 spliceosome associated cyclophilin 0.722 0.346 4.6E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP
TRAF interacting protein 0.644 0.654 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0