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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 55253
Gene Symbol: TYW1
TYW1
tRNA-yW synthesizing protein 1 homolog 0.890 2.0E-10
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 5834
Gene Symbol: PYGB
PYGB
glycogen phosphorylase B 0.792 0.308 1.4E-14
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
THAP domain containing 11 0.769 0.346 0.83
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 55663
Gene Symbol: ZNF446
ZNF446
zinc finger protein 446 5.7E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 56984
Gene Symbol: PSMG2
PSMG2
proteasome assembly chaperone 2 0.839 0.115 2.4E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
THO complex 2 0.650 0.538 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 5717
Gene Symbol: PSMD11
PSMD11
proteasome 26S subunit, non-ATPase 11 0.839 0.269 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1