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: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.130 None 1.000 0 0 2008 2012
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 126695
Gene Symbol: KDF1
KDF1 		keratinocyte differentiation factor 1 0.729 0.269 0.15
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 4035
Gene Symbol: LRP1
LRP1 		LDL receptor related protein 1 0.482 0.769 1.00
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 3892
Gene Symbol: KRT86
KRT86 		keratin 86 0.736 0.308 3.6E-07
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 3889
Gene Symbol: KRT83
KRT83 		keratin 83 0.716 0.269 3.4E-14
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 3887
Gene Symbol: KRT81
KRT81 		keratin 81 0.659 0.462 1.2E-18
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 3868
Gene Symbol: KRT16
KRT16 		keratin 16 0.565 0.769 1.5E-14
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A 		Wnt family member 10A 0.547 0.731 4.2E-09
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease 0.100 None 0 0