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: 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: 1047
Gene Symbol: CLGN
CLGN
calmegin 0.839 0.115 1.3E-11
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 3
Entrez Id: 25932
Gene Symbol: CLIC4
CLIC4
chloride intracellular channel 4 0.628 0.423 1.1E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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
Entrez Id: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 4
Entrez Id: 8532
Gene Symbol: CPZ
CPZ
carboxypeptidase Z 0.839 0.154 8.8E-36
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
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: 8450
Gene Symbol: CUL4B
CUL4B
cullin 4B 0.556 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 9909
Gene Symbol: DENND4B
DENND4B
DENN domain containing 4B 0.931 0.077 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 8632
Gene Symbol: DNAH17
DNAH17
dynein axonemal heavy chain 17 0.839 0.154 2.0E-63
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
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: 134218
Gene Symbol: DNAJC21
DNAJC21
DnaJ heat shock protein family (Hsp40) member C21 0.606 0.731 2.1E-07
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
diphthamide biosynthesis 1 0.653 0.538 8.0E-17
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 503834
Gene Symbol: DPRX
DPRX
divergent-paired related homeobox 2.4E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
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: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 80267
Gene Symbol: EDEM3
EDEM3
ER degradation enhancing alpha-mannosidase like protein 3 0.931 0.154 2.5E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1