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: 9555
Gene Symbol: MACROH2A1
MACROH2A1
macroH2A.1 histone 0.656 0.500 0.74
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
limb development membrane protein 1 0.619 0.308 1.3E-08
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FKBP prolyl isomerase 10 0.606 0.538 2.4E-06
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 6910
Gene Symbol: TBX5
TBX5
T-box transcription factor 5 0.528 0.769 1.00
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 84464
Gene Symbol: SLX4
SLX4
SLX4 structure-specific endonuclease subunit 0.565 0.731 1.6E-22
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 7704
Gene Symbol: ZBTB16
ZBTB16
zinc finger and BTB domain containing 16 0.545 0.808 1.00
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
X-ray repair cross complementing 2 0.512 0.731 4.0E-07
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.530 0.654 2.4E-04
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
troponin T3, fast skeletal type 0.653 0.308 2.1E-07
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 57222
Gene Symbol: ERGIC1
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1 0.700 0.423 0.65
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.543 0.731 8.9E-37
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
FA complementation group F 0.535 0.731 0.46
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype 0.100 None 0 0