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: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1 		NLR family pyrin domain containing 1 0.502 0.769 5.0E-19
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 23086
Gene Symbol: EXPH5
EXPH5 		exophilin 5 0.792 0.154 4.2E-26
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 2531
Gene Symbol: KDSR
KDSR 		3-ketodihydrosphingosine reductase 0.674 0.538 0.12
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 26525
Gene Symbol: IL36RN
IL36RN 		interleukin 36 receptor antagonist 0.638 0.538 3.4E-08
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 2707
Gene Symbol: GJB3
GJB3 		gap junction protein beta 3 0.621 0.462 2.2E-03
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C 		keratin 6C 0.751 0.269 3.8E-22
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 348938
Gene Symbol: NIPAL4
NIPAL4 		NIPA like domain containing 4 0.682 0.423 1.4E-03
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN 		interleukin 1 receptor antagonist 0.373 0.923 3.1E-02
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1 		claudin 1 0.481 0.808 1.0E-03
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0