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| Skeletal dysplasia v1.0 | PITX1 upstream regulatory region | Region PITX1 upstream regulatory region migrated (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.0 | PITX1 | Gene migrated from ENSG00000069011 to ENSG00000069011 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.448 | Sarah Milton Copied Region PITX1 upstream regulatory region from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.448 | PITX1 upstream regulatory region |
Sarah Milton Region: PITX1 upstream regulatory region was added Region: PITX1 upstream regulatory region was added to Skeletal dysplasia. Sources: Expert Review Green,Literature regulatory region tags were added to Region: PITX1 upstream regulatory region. Mode of inheritance for Region: PITX1 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: PITX1 upstream regulatory region were set to PMID: 30711920; 23022097; 25124102; 23587911 Phenotypes for Region: PITX1 upstream regulatory region were set to Liebenberg syndrome, MIM#186550 |
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| Skeletal dysplasia v0.0 | PITX1 |
Zornitza Stark gene: PITX1 was added gene: PITX1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PITX1 were set to 23587911; 23022097; 30459804 Phenotypes for gene: PITX1 were set to Liebenberg syndrome 186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 |
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