Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PTCH1 | Bonobo | acute myeloid leukemia | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar | PMID:25741868 more ... | PTCH1 | Bonobo | anterior segment dysgenesis 5 | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar | PMID:1347096 more ... | PTCH1 | Bonobo | autism spectrum disorder | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | Axenfeld-Rieger syndrome | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:1347096 more ... | PTCH1 | Bonobo | basal cell carcinoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11231326 more ... | PTCH1 | Bonobo | basal cell carcinoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16301862 more ... | PTCH1 | Bonobo | breast carcinoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast carcinoma | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | Cardiovascular Abnormalities | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | cataract | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | congenital heart disease | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital heart disease | ClinVar | PMID:25637381 more ... | PTCH1 | Bonobo | craniopharyngioma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniopharyngioma | ClinVar | PMID:25741868 more ... | PTCH1 | Bonobo | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:17576681 more ... | PTCH1 | Bonobo | Disproportionate Tall Stature | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disproportionate tall stature | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | familial male-limited precocious puberty | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial precocious puberty | ClinVar | PMID:25741868 | PTCH1 | Bonobo | Fanconi anemia | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fanconi anemia | ClinVar | PMID:17924555 more ... | PTCH1 | Bonobo | focal dermal hypoplasia | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome | ClinVar | PMID:11457640 more ... | PTCH1 | Bonobo | Fraser syndrome 3 | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fraser syndrome 3 | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | genetic disease | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16301862 more ... | PTCH1 | Bonobo | germinoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Germinoma | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | hereditary breast ovarian cancer syndrome | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hereditary Neoplastic Syndromes | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | Hirschsprung's disease | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:16231297 more ... | PTCH1 | Bonobo | holoprosencephaly | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11941477 more ... | PTCH1 | Bonobo | holoprosencephaly 7 | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 7 | ClinVar | PMID:11941477 more ... | PTCH1 | Bonobo | hydrocephalus | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital hydrocephalus | ClinVar | PMID:28492532 and PMID:29983323 | PTCH1 | Bonobo | intellectual disability | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | PTCH1 | Bonobo | lung adenocarcinoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung adenocarcinoma | ClinVar | PMID:27993330 and PMID:28492532 | PTCH1 | Bonobo | Macrocephaly | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macrocephaly | ClinVar | PMID:25741868 | PTCH1 | Bonobo | medulloblastoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Medulloblastoma | ClinVar | PMID:16301862 more ... | PTCH1 | Bonobo | microphthalmia | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar | PMID:25567908 more ... | PTCH1 | Bonobo | Multiple Basal Cell Carcinoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Basal cell carcinoma and multiple | ClinVar | PMID:22703879 more ... | PTCH1 | Bonobo | myopia | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopia | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | neuroblastoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuroblastoma | ClinVar | PMID:25741868 and PMID:28492532 | PTCH1 | Bonobo | nevoid basal cell carcinoma syndrome | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | nevoid basal cell carcinoma syndrome | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10048928 more ... | PTCH1 | Bonobo | nevoid basal cell carcinoma syndrome 1 | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Basal cell nevus syndrome 1 | ClinVar | PMID:20301330 and PMID:25741868 | PTCH1 | Bonobo | omphalocele | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Omphalocoele | ClinVar | PMID:25741868 | PTCH1 | Bonobo | ovarian cancer | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:16931872 more ... | PTCH1 | Bonobo | Patterson Stevenson Syndrome | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar | PMID:12204003 more ... | PTCH1 | Bonobo | Peters anomaly | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis | ClinVar | PMID:1347096 more ... | PTCH1 | Bonobo | Pituitary Stalk Interruption Syndrome | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome | ClinVar | PMID:25741868 more ... | PTCH1 | Bonobo | Postaxial Polydactyly | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Postaxial polydactyly | ClinVar | PMID:25741868 | PTCH1 | Bonobo | Preaxial Polydactyly II | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polydactyly and preaxial II | ClinVar | PMID:12204003 more ... | PTCH1 | Bonobo | Precocious Puberty | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Precocious puberty | ClinVar | PMID:25741868 | PTCH1 | Bonobo | retinoblastoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinoblastoma | ClinVar | PMID:24728327 more ... | PTCH1 | Bonobo | rhabdomyosarcoma | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rhabdomyosarcoma | ClinVar | PMID:33372952 | PTCH1 | Bonobo | syndromic microphthalmia 5 | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar | PMID:16231297 more ... | PTCH1 | Bonobo | Turner syndrome | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Turner syndrome | ClinVar | PMID:25741868 | PTCH1 | Bonobo | uterine fibroid | | ISO | PTCH1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Uterine leiomyoma | ClinVar | PMID:25741868 | |