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: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 1.000 limited 0.974 0 5 1999 2018
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 85444
Gene Symbol: LRRCC1
LRRCC1 		leucine rich repeat and coiled-coil centrosomal protein 1 0.722 0.577 7.2E-21
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		dynein cytoplasmic 2 heavy chain 1 0.555 0.731 1.1E-44
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231 		transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 27241
Gene Symbol: BBS9
BBS9 		Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3 		trafficking protein particle complex 3 0.792 0.385 0.25
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 0.100 None 0 1