Source: ALL

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: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.610 None 1.000 1 0 2015 2015
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1 		potassium voltage-gated channel subfamily H member 1 0.542 0.731 0.55
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.550 None 1.000 5 0 2015 2016
Entrez Id: 3782
Gene Symbol: KCNN3
KCNN3 		potassium calcium-activated channel subfamily N member 3 0.621 0.615 0.97
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.510 moderate 1.000 1 0 2019 2019
Entrez Id: 55799
Gene Symbol: CACNA2D3
CACNA2D3 		calcium voltage-gated channel auxiliary subunit alpha2delta 3 0.711 0.577 0.58
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.020 None 1.000 2 0 2007 2007
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A 		Wnt family member 5A 0.443 0.808 0.99
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.020 None 1.000 2 0 2007 2007
Entrez Id: 26059
Gene Symbol: ERC2
ERC2 		ELKS/RAB6-interacting/CAST family member 2 0.890 0.269 0.99
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4 		potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57408
Gene Symbol: LRTM1
LRTM1 		leucine rich repeats and transmembrane domains 1 1.000 0.115 3.4E-16
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		disease 0.010 None 1.000 1 0 2007 2007