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: 23476
Gene Symbol: BRD4
BRD4
bromodomain containing 4 0.446 0.885 1.00
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: 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
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
MYCN proto-oncogene, bHLH transcription factor 0.454 0.808 0.89
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 2
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 4
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 2690
Gene Symbol: GHR
GHR
growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
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: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1