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: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.690 strong 1.000 2 1 2005 2018
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.680 strong 1.000 2 4 2005 2019
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C1836517
Disease: Senior-Loken Syndrome 5
Senior-Loken Syndrome 5 		disease 0.600 None 1.000 3 11 2005 2013
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.140 None 1.000 12 7 2005 2018
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.130 None 1.000 1 2 2005 2019
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.110 None 1.000 1 4 2005 2018
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		phenotype 0.100 None 0 2
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C4025800
Disease: Large central visual field defect
Large central visual field defect 		phenotype 0.100 None 0 2
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease 0.100 None 0 2
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0746889
Disease: Hyperpigmented nevi
Hyperpigmented nevi 		phenotype 0.100 None 0 2
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C4551559
Disease: Senior-Loken Syndrome 1
Senior-Loken Syndrome 1 		disease 0.100 None 0 1