Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3MC syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Craniofacial-ulnar-renal syndrome | ClinVar | | atrial heart septal defect | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Atrial septal defect | ClinVar | PMID:25741868 | atrioventricular septal defect | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Atrioventricular septal defect | ClinVar | PMID:25741868 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18445044 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hall-Hittner syndrome | ClinVar | PMID:18073582 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hall-Hittner syndrome | ClinVar | PMID:22539353 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:26929907, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:23024289, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:24033266, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:24033266 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:22461308 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:28475860, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:24033266 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:24033266, PMID:25741868 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:22461308 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:26467025, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16155193 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:25741868, PMID:29178447 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:30828794 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:24033266 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:15300250 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18834967 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:24033266 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:16763960 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:20301296, PMID:25741868 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:25996639, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:19021638, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:22461308, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hall-Hittner syndrome | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18074359 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:22461308 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:22033296 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:25077900, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hall-Hittner syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16155193 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:28492532, PMID:29300383 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:17253929 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16155193 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16155193 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:22461308 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16155193 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18505430, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16763960 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18505430 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18073582 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:24033266 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16169932 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:10590394 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:23533228 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:22461308 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hall-Hittner syndrome | ClinVar | PMID:22461308 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16155193 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hall-Hittner syndrome | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18413373 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16155193 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:23533228 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:25472840 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:21158681 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:15300250 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:15300250 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16615981 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:24033266 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:24819706, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16763960 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:26986878 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:16400610 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213, PMID:25741868 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18834967, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:20884005 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:22461308 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:21158681, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:27832265, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:25741868, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:25741868, PMID:29300383 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:18978652 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:18074359 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:17334995 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:17937444 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:25326637 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:17661815, PMID:18834967 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:15300250 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:16400610 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:16155193 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:23806086 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213 more ... | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:25741868 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:29300383 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:18414213, PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: CHARGE association | ClinVar | PMID:28492532 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | PMID:18414213 | CHARGE syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:214800 | ClinVar | | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25356970 | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16155193 more ... | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17684005 | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16155193 more ... | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23533228 | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16400610 more ... | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:9326634 | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:21554267 | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15300250 more ... | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18073582 more ... | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18505430 more ... | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10590394 more ... | genetic disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Growth Deficiency and Mental Retardation with Facial Dysmorphism | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome | ClinVar | | Hearing Loss | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:18414213 | Hearing Loss | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:25741868 | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18073582 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:22539353 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:21158681 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:22033296 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:26467025, PMID:28492532 | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:21158681 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:16763960 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:22461308 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:24033266 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:21158681 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:21158681 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:22461308 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:21158681 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:25741868, PMID:28492532 | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:17661815, PMID:18834967 | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:24033266 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:24033266 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:18414213, PMID:28492532 | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:24033266, PMID:28492532 | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:21158681 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:21158681 more ... | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:28492532 | Hittner Hirsch Kreh Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome | ClinVar | PMID:24033266 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18073582 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:25996639, PMID:28492532 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:24033266 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:21158681 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:24033266, PMID:28492532 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:24033266, PMID:27899157 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:25472840 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:24033266 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:26467025 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:16763960 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:24033266 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:21158681 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213, PMID:25741868 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:26467025, PMID:28492532 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:22033296 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:24033266 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:26929907, PMID:28492532 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | ClinVar | PMID:22461308 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:22539353 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:28475860, PMID:28492532 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:21158681 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | ClinVar | PMID:21158681 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:25741868, PMID:28492532 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18414213 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:24033266 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:16400610 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:28492532 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18834967 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:18074359 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:25741868 | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:15300250 more ... | hypogonadotropic hypogonadism 5 with or without anosmia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia | ClinVar | PMID:22461308, PMID:28492532 | hypothyroidism | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Hypothyroidism | ClinVar | PMID:25741868 | idiopathic scoliosis | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Scoliosis, idiopathic 3 | ClinVar | PMID:17436250, PMID:23883829 | intellectual disability | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868, PMID:28492532 | intellectual disability | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Kallmann syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann Syndrome | ClinVar | PMID:18414213 more ... | Kallmann syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by OMIM:612370 | ClinVar | | Kallmann syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann Syndrome | ClinVar | PMID:28492532 | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:28492532 | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18073582 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:21158681 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:24033266 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:16763960 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:24033266 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:21158681 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:26467025, PMID:28492532 | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:22033296 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:24033266, PMID:28492532 | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:22461308 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:25741868, PMID:28492532 | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:21158681 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:24033266 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:22539353 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:18414213 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:21158681 more ... | Kallmann Syndrome 5 | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Kallmann syndrome 5 | ClinVar | PMID:24033266 more ... | microcephaly | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | myopia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Myopia | ClinVar | PMID:25741868 | neuritis | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Peripheral neuritis | ClinVar | PMID:22539353 more ... | Neurodevelopmental Disorders | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | neuropathy | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Neuropathy | ClinVar | PMID:22539353 more ... | paraplegia | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:22539353 more ... | peripheral nervous system disease | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:22539353 more ... | Pituitary Stalk Interruption Syndrome | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome | ClinVar | PMID:25741868 | premature ovarian failure | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Primary Ovarian Insufficiency | ClinVar | PMID:24033266 more ... | scoliosis | | ISO | RGD:1323630 | 8554872 | ClinVar Annotator: match by term: Scoliosis | ClinVar | PMID:25741868 | |
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
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Imported Annotations - PID (archival)
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Mammalian Phenotype
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References
References - curated
| 1. | Bilan F, etal., J Mol Diagn. 2012 Jan;14(1):46-55. doi: 10.1016/j.jmoldx.2011.08.003. Epub 2011 Oct 25. |
| 2. | Bosman EA, etal., Hum Mol Genet. 2005 Nov 15;14(22):3463-76. Epub 2005 Oct 5. |
| 3. | Cho HJ, etal., Gene. 2013 Apr 1;517(2):164-8. doi: 10.1016/j.gene.2013.01.010. Epub 2013 Jan 17. |
| 4. | Ogier JM, etal., PLoS One. 2014 May 19;9(5):e97559. doi: 10.1371/journal.pone.0097559. eCollection 2014. |
| 5. | OMIM Disease Annotation Pipeline |
| 6. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 7. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | RGD automated import pipeline for gene-chemical interactions |
| 9. | Vuorela P, etal., Genet Med. 2007 Oct;9(10):690-4. |
| 10. | Wessels K, etal., Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. |
| 11. | Wincent J, etal., Clin Genet. 2008 Jul;74(1):31-8. doi: 10.1111/j.1399-0004.2008.01014.x. Epub 2008 Apr 28. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10512203 | PMID:10922068 | PMID:10932191 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11544199 | PMID:11919684 | PMID:12466851 | PMID:12477932 |
| PMID:12520002 | PMID:14610273 | PMID:14691545 | PMID:15353999 | PMID:15782199 | PMID:15840001 | PMID:15916118 | PMID:16104381 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:17334657 |
| PMID:17701983 | PMID:17967808 | PMID:18554416 | PMID:18799693 | PMID:18973680 | PMID:19251738 | PMID:19279158 | PMID:19809474 | PMID:19855134 | PMID:20507341 | PMID:20591827 | PMID:20657823 |
| PMID:20736290 | PMID:21267068 | PMID:21532573 | PMID:21596839 | PMID:21677750 | PMID:21875659 | PMID:22539951 | PMID:22658483 | PMID:22705977 | PMID:23012479 | PMID:23285124 | PMID:23319608 |
| PMID:23827709 | PMID:23892456 | PMID:24026680 | PMID:24293546 | PMID:24368733 | PMID:24457600 | PMID:24728844 | PMID:24975120 | PMID:25119037 | PMID:25183173 | PMID:25859222 | PMID:25985275 |
| PMID:26102480 | PMID:26584622 | PMID:26670829 | PMID:26928066 | PMID:27174565 | PMID:27955690 | PMID:28165338 | PMID:28317875 | PMID:28373172 | PMID:28671696 | PMID:28931573 | PMID:29018080 |
| PMID:29168327 | PMID:29212025 | PMID:29311329 | PMID:29467333 | PMID:30108144 | PMID:30595499 | PMID:31444215 | PMID:32325033 | PMID:32883883 | PMID:33127760 |
Genomics
