Source: HPO

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: 10320
Gene Symbol: IKZF1
IKZF1 		IKAROS family zinc finger 1 0.533 0.769 1.00
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0
Entrez Id: 1828
Gene Symbol: DSG1
DSG1 		desmoglein 1 0.606 0.538 0.93
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0
Entrez Id: 27032
Gene Symbol: ATP2C1
ATP2C1 		ATPase secretory pathway Ca2+ transporting 1 0.663 0.423 1.00
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B 		major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0
Entrez Id: 3728
Gene Symbol: JUP
JUP 		junction plakoglobin 0.628 0.500 8.0E-04
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0
Entrez Id: 3849
Gene Symbol: KRT2
KRT2 		keratin 2 0.760 0.154 1.3E-03
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0000887
Disease: Acantholysis
Acantholysis 		phenotype 0.100 None 0 0