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: 85444
Gene Symbol: LRRCC1
LRRCC1 		leucine rich repeat and coiled-coil centrosomal protein 1 0.722 0.577 7.2E-21
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 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: 85444
Gene Symbol: LRRCC1
LRRCC1 		leucine rich repeat and coiled-coil centrosomal protein 1 0.722 0.577 7.2E-21
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 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: C3549567
Disease: Echogenic kidneys
Echogenic kidneys 		phenotype 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1