Source: CLINVAR

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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 7 14 2001 2008
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 3 2 2006 2011
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
cathepsin A 0.619 0.731 5.9E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 3 2 1996 2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2007 2007
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2009 2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 2 2012 2015
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2011 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2010 2011
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: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 10 2015 2015
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: 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: 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: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 1 2017 2017
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: 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: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 1 2019 2019
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: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 3 2019 2019
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: 25836
Gene Symbol: NIPBL
NIPBL
NIPBL cohesin loading factor 0.521 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 4
Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1
CAP-Gly domain containing linker protein 1 0.617 0.654 0.68
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1