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GENE - TERM ANNOTATION REPORT

187 Annotations Found.

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:14399121 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28893998 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888447 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:126741810 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11548959 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:401919668 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11548247 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883604 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889902 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11616587 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10047516 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11542896 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11547102 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11547506 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11544873 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11544489 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11547497 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:151735997 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150410046 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150409487 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150409494 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150331571 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150336653 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150334990 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150409490 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150410043 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150409483 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28873979 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888451 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11616739 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889085 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11622838 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888457 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11615628 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11617861 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28894008 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888726 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11613672 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11620213 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28873982 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11619646 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889906 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:152982735 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883607 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:152982734 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8573298 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:11741829 PMID:15111300 PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15200462 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15199139 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11654719 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28887799 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28873970 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11625181 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:127290098 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11350931 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11545489 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11622001 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11618869 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28882612 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11645686 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889656 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28882996 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15172012 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15111969 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11662233 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11660519 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11655191 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888453 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11612768 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11659217 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11659930 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11612910 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28887810 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11612619 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11634589 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11657337 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11657605 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11625404 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11621380 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11653960 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11650413 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11613230 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11614534 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28893725 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15097738 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28887814 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11618996 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15163091 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889077 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15109768 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11624589 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888131 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11635516 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28878286 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28873975 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28893488 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:14693101 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11606593 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28893483 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883296 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883301 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11618342 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28887805 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888126 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883000 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28893723 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11649653 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11634856 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11649417 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:39456774 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883299 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11621812 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11616900 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883291 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623879 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623765 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15162803 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11621503 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889083 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11621220 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11613972 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11617216 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11624758 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28878281 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11622378 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28878290 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11616169 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11618014 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11625587 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28882990 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623608 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11618440 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623647 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15181094 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28882994 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11617694 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13522185 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11625224 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:150483569 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15153163 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:126744930 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868 PMID:25741916 PMID:28492532 PMID:29620724 PMID:32552793 PMID:32860008

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:126763158 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889651 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:151349442 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15200956 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13435516 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:11741829 PMID:14584882 PMID:17164308 PMID:19543743 PMID:21527911 PMID:21962762 PMID:23983121 PMID:25741868 PMID:25741905 PMID:26365571 PMID:28492532 PMID:30942407 PMID:31412925 PMID:32369273

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623698 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28874366 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Original References(s): OMIM:618541

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Original References(s): OMIM:611490

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Original References(s): OMIM:166600

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Original References(s): ORPHA:667

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889087 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11653805 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:151729502 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:14584882 PMID:19238435 PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883612 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888722 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11614911 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623225 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:127259021 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:11741829 PMID:17164308 PMID:19543743 PMID:21962762 PMID:25741868 PMID:28492532 PMID:30942407 PMID:31412925

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11625042 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623106 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11621136 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8559592 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10047642 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11623420 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8573297 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:16118345 PMID:20301306 PMID:23296056 PMID:26056022 PMID:28492532 PMID:30229577

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:151824624 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8573296 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:16234969 PMID:20301306 PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:155797576 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:25741868

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28888719 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:151794766 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11614389 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11622571 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28889653 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:25410126 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11663690 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11614508 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883909 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28874183 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28874189 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11660397 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8559591 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:11468688 PMID:11741829 PMID:1516225 PMID:20301306 PMID:21947783 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11620819 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:152981230 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease
Original References(s): PMID:19953639 PMID:25741868 PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11662257 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28883600 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28894001 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532

An association has been curated linking CLCN7 and Osteopetrosis in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28874184 (Homo sapiens)
22 RGD objects have been annotated to Osteopetrosis  (HP:0011002)
8 papers in RGD have been used to annotate CLCN7
Curation Notes: ClinVar Annotator: match by term: Osteopetrosis
Original References(s): PMID:28492532 PMID:29595814

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