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: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23059
Gene Symbol: CLUAP1
CLUAP1
clusterin associated protein 1 0.805 0.231 4.2E-04
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 1 2 2017 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
PHD finger protein 6 0.581 0.692 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 2
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease 0.100 None 0 1