BMPR1B, bone morphogenetic protein receptor type 1B, 658
N. diseases: 145; N. variants: 22
Source: ALL
Disease | Type | Disease Class | Semantic Type | N. genes d | N. SNPs d | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
phenotype | Finding | 5 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 5 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 6 | 8 | 0.760 | None | 0.875 | 8 | 6 | 2003 | 2014 | ||||
|
phenotype | Finding | 6 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 6 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 7 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | 8 | 15 | 0.310 | None | 1.000 | 1 | 2015 | 2015 | |||||
|
phenotype | Finding | 9 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 12 | 0.100 | None | 0 | ||||||||||
|
disease | Digestive System Diseases | Disease or Syndrome | 13 | 0.300 | None | 1.000 | 1 | 2018 | 2018 | ||||||
|
disease | Anatomical Abnormality | 13 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 13 | 2 | 0.100 | None | 0 | |||||||||
|
phenotype | Anatomical Abnormality | 14 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital Abnormality | 15 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | 16 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | ||||||
|
phenotype | Finding | 16 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 17 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 17 | 0.100 | None | 0 | ||||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 19 | 8 | 0.410 | None | 1.000 | 1 | 2 | 2006 | 2006 | ||||
|
phenotype | Finding | 20 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | 22 | 1 | 0.100 | None | 0 | ||||||||
|
phenotype | Musculoskeletal Diseases | Finding | 22 | 1 | 0.100 | None | 0 |