Source: INFERRED

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: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1
GTF2I repeat domain containing 1 0.522 0.769 0.90
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
NOP2/Sun RNA methyltransferase 2 0.559 0.846 2.6E-04
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
receptor interacting serine/threonine kinase 4 0.565 0.654 4.0E-03
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
msh homeobox 1 0.525 0.731 0.17
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 4010
Gene Symbol: LMX1B
LMX1B
LIM homeobox transcription factor 1 beta 0.565 0.731 0.75
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1
LIM domain kinase 1 0.488 0.731 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
T-box transcription factor 4 0.576 0.731 0.50
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 8726
Gene Symbol: EED
EED
embryonic ectoderm development 0.588 0.615 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
nectin cell adhesion molecule 4 0.599 0.538 0.84
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2
CAP-Gly domain containing linker protein 2 0.529 0.808 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
T-box transcription factor 3 0.525 0.769 0.99
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
DNA ligase 4 0.478 0.846 4.2E-06
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
inositol polyphosphate phosphatase like 1 0.590 0.769 2.3E-03
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype 0.100 None 0 1