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GENE - TERM ANNOTATION REPORT

62 Annotations Found.

An association has been curated linking CBS and Homocystinuria 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:8555459 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10364517 PMID:12007221 PMID:12269827 PMID:12552044 PMID:14722619 PMID:14722927 PMID:14972327 PMID:16245937 PMID:16479318 PMID:18805305 PMID:20490928 PMID:20506325 PMID:21520339 PMID:21626167 PMID:22069143 PMID:22267502 PMID:23974653 PMID:25044645 PMID:25197074 PMID:25218699 PMID:25331909 PMID:25741868 PMID:26750749 PMID:27861796 PMID:28492532 PMID:30050925 PMID:32000841 PMID:32245022 PMID:8755636

An association has been curated linking CBS and Homocystinuria 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:150408790 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:15365998 PMID:22267502 PMID:31301157

An association has been curated linking CBS and Homocystinuria 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:34896111 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12124992 PMID:15146473 PMID:20506325 PMID:9889017

An association has been curated linking CBS and Homocystinuria 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:11659873 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria

An association has been curated linking CBS and Homocystinuria 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:11649572 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria

An association has been curated linking CBS and Homocystinuria 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:12741563 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:11359213 PMID:12124992 PMID:25218699 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:8555451 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: High urine homocystine levels
Original References(s): PMID:16479318 PMID:22267502 PMID:24211323 PMID:25218699 PMID:25741868 PMID:28492532 PMID:8353501

An association has been curated linking CBS and Homocystinuria 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:13786681 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:11774777 PMID:12124992 PMID:15365998 PMID:16199547 PMID:16479318 PMID:25741868 PMID:28492532 PMID:29352562 PMID:30873612

An association has been curated linking CBS and Homocystinuria 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:12741564 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:16429402 PMID:18280597 PMID:22267502 PMID:23974653 PMID:24613005 PMID:25218699 PMID:25741868 PMID:26464485 PMID:28492532 PMID:9870207

An association has been curated linking CBS and Homocystinuria 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:8555452 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:10408774 PMID:11359213 PMID:12686134 PMID:14722927 PMID:14739681 PMID:16307898 PMID:16479318 PMID:17069888 PMID:20066033 PMID:20308073 PMID:20490928 PMID:20506325 PMID:22069143 PMID:22267502 PMID:22612060 PMID:22985361 PMID:25087612 PMID:25326637 PMID:25331909 PMID:25741868 PMID:27959664 PMID:28097321 PMID:28492532 PMID:32232970 PMID:34426522 PMID:7762555 PMID:8353501 PMID:9587029

An association has been curated linking CBS and Homocystinuria 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:243056270 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria

An association has been curated linking CBS and Homocystinuria 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:10042238 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: High urine homocystine levels
Original References(s): PMID:12686134 PMID:16205833 PMID:16479318 PMID:21517828 PMID:22267502 PMID:22977242 PMID:25741868 PMID:28492532 PMID:7762555

An association has been curated linking CBS and Homocystinuria 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:8555450 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: High urine homocystine levels
Original References(s): PMID:12124992 PMID:12552044 PMID:12686134 PMID:14722927 PMID:17319270 PMID:18280597 PMID:20506325 PMID:22069143 PMID:22267502 PMID:23733603 PMID:24033266 PMID:25087612 PMID:25741868 PMID:28492532 PMID:7506602 PMID:7564249 PMID:7581402 PMID:8744616 PMID:9361025 PMID:9889017

An association has been curated linking CBS and Homocystinuria 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:8639349 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10408774 PMID:12124992 PMID:12815602 PMID:16205833 PMID:16429402 PMID:16786517 PMID:19370759 PMID:20455263 PMID:21517828 PMID:23974653 PMID:25218699 PMID:25741868 PMID:25741916 PMID:26464485 PMID:28492532 PMID:31240737 PMID:7967489 PMID:9870207

An association has been curated linking CBS and Homocystinuria 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:13783202 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12124992 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:14689575 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10215408 PMID:10338090 PMID:12124992 PMID:12815602 PMID:16199547 PMID:25218699 PMID:25741868 PMID:28492532 PMID:29508359

An association has been curated linking CBS and Homocystinuria 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:10411277 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:14972327 PMID:16786517 PMID:22267502 PMID:23981774 PMID:25326637 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:10409537 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12815602 PMID:15365998 PMID:16429402 PMID:21030686 PMID:21520339 PMID:22267502 PMID:25741868 PMID:28492532 PMID:33726816

An association has been curated linking CBS and Homocystinuria 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
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Original References(s): OMIM:236200

An association has been curated linking CBS and Homocystinuria 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:10048828 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12124992 PMID:14722927 PMID:18423051 PMID:20308073 PMID:20490928 PMID:20506325 PMID:21520339 PMID:22612060 PMID:25331909 PMID:25741868 PMID:28492532 PMID:29508359 PMID:7762555 PMID:7849717 PMID:9587029

An association has been curated linking CBS and Homocystinuria 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:12741575 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:14635102 PMID:15365998 PMID:16429402 PMID:17056636 PMID:17540596 PMID:17601930 PMID:20066033 PMID:21520339 PMID:22267502 PMID:25741868 PMID:28492532 PMID:32245022 PMID:9590298

An association has been curated linking CBS and Homocystinuria 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:8555461 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:11359213 PMID:1301198 PMID:15146473 PMID:15365998 PMID:20490928 PMID:20506325 PMID:20567906 PMID:24211323 PMID:25218699 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:151663003 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:15146473 PMID:32768567

An association has been curated linking CBS and Homocystinuria 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:8555464 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:11774777 PMID:12124992 PMID:12686134 PMID:14635102 PMID:16205833 PMID:16479318 PMID:21520339 PMID:22267502 PMID:23812867 PMID:24211323 PMID:25741868 PMID:28492532 PMID:28583326 PMID:9156316

An association has been curated linking CBS and Homocystinuria 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:10409989 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12124992 PMID:21957013 PMID:28492532 PMID:30873612

An association has been curated linking CBS and Homocystinuria 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:10042219 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12124992 PMID:16205833 PMID:16307898 PMID:17576681 PMID:19370759 PMID:19914636 PMID:22267502 PMID:24211323 PMID:25741868 PMID:27243974 PMID:28492532 PMID:30202406 PMID:9536098

An association has been curated linking CBS and Homocystinuria 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:13788567 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:25939784 PMID:28492532 PMID:33057012 PMID:34449519 PMID:34818515

An association has been curated linking CBS and Homocystinuria 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:10042236 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:17576681 PMID:21520339 PMID:25741868 PMID:28492532 PMID:28980096 PMID:34449521 PMID:9536098

An association has been curated linking CBS and Homocystinuria 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:8555457 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:20506325 PMID:25331909 PMID:28492532 PMID:8990018

An association has been curated linking CBS and Homocystinuria 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:8555455 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10215408 PMID:11359213 PMID:12124992 PMID:14722927 PMID:20490928 PMID:20506325 PMID:22267502 PMID:25331909 PMID:25741868 PMID:28492532 PMID:33057012 PMID:7611293

An association has been curated linking CBS and Homocystinuria 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:13517428 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10215408 PMID:10364517 PMID:11359213 PMID:12124992 PMID:18708589 PMID:20490928 PMID:20506325 PMID:20567906 PMID:22267502 PMID:25331909 PMID:25741868 PMID:28492532 PMID:7635485

An association has been curated linking CBS and Homocystinuria 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:14690436 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:20490928 PMID:20506325 PMID:22267502 PMID:22353391 PMID:22612060 PMID:28492532 PMID:30732165 PMID:9266356

An association has been curated linking CBS and Homocystinuria 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:8555465 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12815602 PMID:15993874 PMID:16429402 PMID:16470595 PMID:16479318 PMID:20506325 PMID:21520339 PMID:22069143 PMID:22267502 PMID:25218699 PMID:25741868 PMID:27681349 PMID:28492532 PMID:29352562 PMID:32769498 PMID:33335839 PMID:35281663

An association has been curated linking CBS and Homocystinuria 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:13785059 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:15365998 PMID:16205833 PMID:16470595 PMID:21240075 PMID:22267502 PMID:25336647 PMID:25741868 PMID:31301157 PMID:32232970 PMID:32245022

An association has been curated linking CBS and Homocystinuria 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:13517468 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12124992 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:10042214 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10687314 PMID:12686134 PMID:12828591 PMID:14722927 PMID:20066033 PMID:22267502 PMID:25455305 PMID:25741868 PMID:28492532 PMID:29508359 PMID:8803779 PMID:9587029

An association has been curated linking CBS and Homocystinuria 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:12741567 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12007221 PMID:12124992 PMID:16199547 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:8555458 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:11343305 PMID:12686134 PMID:14722927 PMID:15192637 PMID:16619244 PMID:19232736 PMID:20490928 PMID:20506325 PMID:22267502 PMID:22333527 PMID:22612060 PMID:22738154 PMID:25331909 PMID:25741868 PMID:28488385 PMID:28492532 PMID:9361025

An association has been curated linking CBS and Homocystinuria 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:11663240 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:10364517 PMID:12124992 PMID:12815602 PMID:16429402 PMID:17327360 PMID:20308073 PMID:20506325 PMID:20821054 PMID:22612060 PMID:24211323 PMID:25741868 PMID:28492532 PMID:7849717 PMID:9587029

An association has been curated linking CBS and Homocystinuria 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:26889831 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:15365998 PMID:16307898 PMID:17576681 PMID:20066033 PMID:22267502 PMID:25741868 PMID:28492532 PMID:29352562 PMID:9536098

An association has been curated linking CBS and Homocystinuria 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:10042282 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12124992 PMID:12686134 PMID:14635102 PMID:17069888 PMID:20066033 PMID:20455263 PMID:22267502 PMID:25741868 PMID:28492532 PMID:9889017

An association has been curated linking CBS and Homocystinuria 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:10411193 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12124992 PMID:22267502 PMID:25741868 PMID:27959664 PMID:28492532 PMID:29326875

An association has been curated linking CBS and Homocystinuria 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:10410918 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12124992 PMID:22267502 PMID:25741868 PMID:28492532 PMID:9156316

An association has been curated linking CBS and Homocystinuria 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:12741573 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12686134 PMID:15146473 PMID:16307898 PMID:16429402 PMID:16479318 PMID:20490928 PMID:20506325 PMID:20694756 PMID:22267502 PMID:25331909 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:13782708 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12124992 PMID:12686134 PMID:14635102 PMID:15146473 PMID:17540596 PMID:20066033 PMID:20455263 PMID:22267502 PMID:25741868 PMID:28492532 PMID:9889017

An association has been curated linking CBS and Homocystinuria 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:10409207 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:16167124 PMID:20455263 PMID:21517828 PMID:22267502 PMID:25741868 PMID:28492532 PMID:30246729 PMID:32000841

An association has been curated linking CBS and Homocystinuria 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:10409572 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10364517 PMID:12124992 PMID:17327360 PMID:18708589 PMID:21030686 PMID:22267502 PMID:25087612 PMID:25741868 PMID:28492532 PMID:7635485

An association has been curated linking CBS and Homocystinuria 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:404991735 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria

An association has been curated linking CBS and Homocystinuria 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:12741569 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:11343305 PMID:14635102 PMID:20066033 PMID:22267502 PMID:25741868 PMID:28492532 PMID:9361025

An association has been curated linking CBS and Homocystinuria 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:8555460 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10531322 PMID:11230183 PMID:14635102 PMID:15087459 PMID:20066033 PMID:22267502 PMID:25741868 PMID:28492532 PMID:29650765 PMID:33985475 PMID:8528202

An association has been curated linking CBS and Homocystinuria 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:13464998 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12124992 PMID:14635102 PMID:16199547 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:13621260 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:22267502 PMID:24211323 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:10049218 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:14722927 PMID:17540596 PMID:20066033 PMID:22267502 PMID:25087612 PMID:25741868 PMID:28492532 PMID:28835823 PMID:32245022 PMID:33057012 PMID:9361025 PMID:9889017

An association has been curated linking CBS and Homocystinuria 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:10042213 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:11553052 PMID:12815602 PMID:16429402 PMID:21520339 PMID:25044645 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:13516010 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:10408774 PMID:12124992 PMID:20506325 PMID:22267502 PMID:25741868 PMID:28492532 PMID:29326875 PMID:32245022

An association has been curated linking CBS and Homocystinuria 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:10042222 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12124992 PMID:20871414 PMID:21520339 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:152980545 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:11553052 PMID:12686134 PMID:22267502 PMID:25741868

An association has been curated linking CBS and Homocystinuria 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:10409787 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12686134 PMID:16307898 PMID:20455263 PMID:21520339 PMID:22267502 PMID:22353391 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:10042240 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10338090 PMID:12686134 PMID:16307898 PMID:16479318 PMID:21520339 PMID:22267502 PMID:25741868 PMID:28492532 PMID:30873612 PMID:31301157

An association has been curated linking CBS and Homocystinuria 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:8555453 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10328723 PMID:10338090 PMID:10364517 PMID:10807759 PMID:11230183 PMID:11359213 PMID:11434706 PMID:12552044 PMID:1301198 PMID:14722927 PMID:15146473 PMID:16375773 PMID:17072863 PMID:17540596 PMID:18201569 PMID:18805305 PMID:19819175 PMID:20506325 PMID:2056790 PMID:20567906 PMID:21520339 PMID:22069143 PMID:22267502 PMID:23592311 PMID:24033266 PMID:25516723 PMID:25741868 PMID:26750749 PMID:28492532 PMID:28583326 PMID:33223529 PMID:6711564 PMID:7506602 PMID:7611293 PMID:7635485 PMID:7762555 PMID:8554066 PMID:8803779 PMID:8940271 PMID:9708897 PMID:9864922

An association has been curated linking CBS and Homocystinuria 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:34891452 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:12124992 PMID:12686134 PMID:14635102 PMID:15146473 PMID:17540596 PMID:20066033 PMID:20490928 PMID:20506325 PMID:22267502 PMID:23934999 PMID:25331909 PMID:25741868 PMID:28492532

An association has been curated linking CBS and Homocystinuria 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:12894347 (Homo sapiens)
11 RGD objects have been annotated to Homocystinuria  (HP:0002156)
28 papers in RGD have been used to annotate CBS
Curation Notes: ClinVar Annotator: match by term: Homocystinuria
Original References(s): PMID:10462600 PMID:22267502 PMID:25741868 PMID:28492532

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