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: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 2
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 2
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 2
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 1
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 1
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 2
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 2
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 2
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype 0.100 None 0 1