Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:17576681 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:24728327 and PMID:28492532 | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:28492532 | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:24728327 and PMID:25741868 | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 and PMID:28941602 | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | Acroosteolysis Dominant Type | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Acroosteolysis dominant type | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:16773578 | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25016221 | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 and PMID:31749841 | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:24728327 and PMID:25741868 | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | ALAGILLE SYNDROME 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar | PMID:25741868 | NOTCH2 | Human | CAKUT | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | | NOTCH2 | Human | CAKUT | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24728327 | NOTCH2 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | NOTCH2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | NOTCH2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH2 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | NOTCH2 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:24728327 and PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 and PMID:28566479 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:27312922 and PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:16773578 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:22209762 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378989 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378985 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21681853 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 and PMID:29100090 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar | PMID:16199547 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 and PMID:30366773 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 and PMID:32164334 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 and PMID:31130284 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME | ClinVar | PMID:24728327 and PMID:25741868 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar | PMID:25741868 and PMID:28941602 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:28492532 and PMID:33448881 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar | PMID:25741868 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21378989 and PMID:25741868 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:21712856 and PMID:8723560 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar | PMID:17159511 and PMID:21712856 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | NOTCH2 | Human | Hajdu-Cheney syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | NOTCH2 | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 | NOTCH2 | Human | Hirschsprung Disease 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease 1 | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | Hirschsprung's disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:24728327 more ... | NOTCH2 | Human | keratoacanthoma | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratoacanthoma | ClinVar | PMID:27283355 | NOTCH2 | Human | Monoclonal B-Cell Lymphocytosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis | ClinVar | PMID:21378985 more ... | NOTCH2 | Human | PHGDH deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PHGDH deficiency | ClinVar | PMID:28492532 | NOTCH2 | Human | primary ovarian insufficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ovarian failure | ClinVar | PMID:25741868 and PMID:28492532 | NOTCH2 | Human | VACTERL association | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: VATER association | ClinVar | PMID:25741868 and PMID:28492532 | |