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: 23347
Gene Symbol: SMCHD1
SMCHD1
A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 3 0.631 0.615 1.00 0.600 moderate 0.968 3 0 2012 2019
Entrez Id: 100288687
Gene Symbol: DUX4
DUX4
Q9UBX2 double homeobox 4 6 0.604 0.500 0.600 None 0.989 1 0 2006 2019
Entrez Id: 2483
Gene Symbol: FRG1
FRG1
Q14331 FSHD region gene 1 Nucleic acid binding 2 0.722 0.423 6.1E-07 0.400 None 0.957 3 0 1996 2017
Entrez Id: 22947
Gene Symbol: DUX4L1
DUX4L1
double homeobox 4 like 1 (pseudogene) 1 1.000 0.115 0.350 None 1.000 0 0 2007 2018
Entrez Id: 4060
Gene Symbol: LUM
LUM
P51884 lumican 4 0.543 0.731 7.7E-02 0.310 None 1.000 1 0 2003 2003
Entrez Id: 176
Gene Symbol: ACAN
ACAN
P16112 aggrecan Extracellular structure 8 0.528 0.846 1.00 0.300 None 1.000 1 0 2003 2003
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 24 0.415 0.885 2.1E-14 0.300 None 1.000 1 0 2003 2003
Entrez Id: 1634
Gene Symbol: DCN
DCN
P07585 decorin 10 0.457 0.808 0.31 0.300 None 1.000 1 0 2003 2003
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
P02461 collagen type III alpha 1 chain 49 0.477 0.808 1.00 0.300 None 1.000 1 0 2003 2003
Entrez Id: 1026
Gene Symbol: CDKN1A
CDKN1A
P38936 cyclin dependent kinase inhibitor 1A 34 0.403 0.769 1.9E-03 0.300 None 1.000 1 0 2003 2003
Entrez Id: 2953
Gene Symbol: GSTT2
GSTT2
P0CG29 glutathione S-transferase theta 2 (gene/pseudogene) 3 0.760 0.423 1.5E-02 0.300 None 1.000 1 0 2003 2003
Entrez Id: 3304
Gene Symbol: HSPA1B
HSPA1B
P0DMV8 P0DMV9 heat shock protein family A (Hsp70) member 1B 19 0.474 0.808 5.3E-03 0.300 None 1.000 1 0 2003 2003
Entrez Id: 3308
Gene Symbol: HSPA4
HSPA4
P34932 heat shock protein family A (Hsp70) member 4 7 0.394 0.923 1.00 0.300 None 1.000 1 0 2003 2003