Source: ALL

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: 4646
Gene Symbol: MYO6
MYO6
myosin VI 0.631 0.731 2.4E-05
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 9242
Gene Symbol: MSC
MSC
musculin 0.475 0.846 2.5E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54361
Gene Symbol: WNT4
WNT4
Wnt family member 4 0.552 0.731 0.13
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54757
Gene Symbol: FAM20A
FAM20A
FAM20A golgi associated secretory pathway pseudokinase 0.700 0.346 2.2E-07
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 2 2019 2019
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55695
Gene Symbol: NSUN5
NSUN5
NOP2/Sun RNA methyltransferase 5 0.663 0.423 8.2E-13
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1
CCR4-NOT transcription complex subunit 1 0.674 0.577 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 0.493 0.769 8.5E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 126695
Gene Symbol: KDF1
KDF1
keratinocyte differentiation factor 1 0.729 0.269 0.15
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6731
Gene Symbol: SRP72
SRP72
signal recognition particle 72 0.711 0.269 1.7E-03
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 947
Gene Symbol: CD34
CD34
CD34 molecule 0.368 0.808 5.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2018 2020
Entrez Id: 7480
Gene Symbol: WNT10B
WNT10B
Wnt family member 10B 0.576 0.654 3.6E-04
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.020 None 1.000 2 0 2018 2018
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2672
Gene Symbol: GFI1
GFI1
growth factor independent 1 transcriptional repressor 0.546 0.769 0.25
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 1 2018 2018
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3
laminin subunit alpha 3 0.576 0.731 8.8E-46
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
MDS1 and EVI1 complex locus 0.513 0.731 1.00
CUI: C0000846
Disease: Agenesis
Agenesis
disease 0.010 None 1.000 1 0 2018 2018