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: 23334
Gene Symbol: SZT2
SZT2
SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases
phenotype 0.100 None 0 2
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases
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: C1857953
Disease: Deep plantar creases
Deep plantar creases
phenotype 0.100 None 0 1
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases
phenotype 0.100 None 0 1