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: 51053
Gene Symbol: GMNN
GMNN
geminin DNA replication inhibitor 0.554 0.808 0.11
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4
latent transforming growth factor beta binding protein 4 0.604 0.654 0.50
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 2
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 54453
Gene Symbol: RIN2
RIN2
Ras and Rab interactor 2 0.623 0.692 8.1E-04
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1
AE binding protein 1 0.631 0.654 7.3E-11
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
actin like 6A 0.678 0.346 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
phenotype 0.100 None 0 1