Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 229 0.502 0.769 1.9E-07 0.100 None 0 0
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1
A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 80 0.631 0.615 1.00 0.100 None 0 0
Entrez Id: 2483
Gene Symbol: FRG1
FRG1
Q14331 FSHD region gene 1 Nucleic acid binding 44 0.722 0.423 6.1E-07 0.100 None 0 0
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
P46976 glycogenin 1 Enzyme 52 0.722 0.308 4.8E-12 0.100 None 0 0
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
P36507 mitogen-activated protein kinase kinase 2 Kinase 177 0.534 0.731 0.97 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 0 0
Entrez Id: 7421
Gene Symbol: VDR
VDR
P11473 vitamin D receptor Nuclear receptor 852 0.352 0.885 1.7E-05 0.100 None 0 0
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.100 None 0 0