PTPN11, protein tyrosine phosphatase non-receptor type 11, 5781
N. diseases: 702; N. variants: 98
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. | ||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases | Disease or Syndrome | 42 | 24 | 0.200 | None | 1.000 | 1 | 2004 | 2004 | |||||
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phenotype | Anatomical Abnormality | 12 | 1 | 0.010 | None | 1.000 | 1 | 2017 | 2017 | ||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | Congenital Abnormality | 44 | 0.100 | None | 0 | |||||||||
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phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Anatomical Abnormality | 23 | 0.100 | None | 0 | |||||||||
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disease | Anatomical Abnormality | 29 | 0.100 | None | 0 | ||||||||||
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phenotype | Musculoskeletal Diseases | Finding | 6 | 0.100 | None | 0 | |||||||||
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disease | Anatomical Abnormality | 40 | 0.100 | None | 0 | ||||||||||
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phenotype | Finding | 21 | 2 | 0.100 | None | 0 | |||||||||
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disease | Anatomical Abnormality | 22 | 1 | 0.100 | None | 0 | 1 | ||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | 198 | 13 | 0.100 | None | 0 | 1 | |||||||
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phenotype | Finding | 59 | 15 | 0.100 | None | 0 | 3 | ||||||||
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phenotype | Anatomical Abnormality | 86 | 0.100 | None | 0 | ||||||||||
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disease | Finding | 40 | 0.100 | None | 0 | ||||||||||
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phenotype | Anatomical Abnormality | 1 | 1 | 0.100 | None | 0 | 1 | ||||||||
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phenotype | Anatomical Abnormality | 56 | 29 | 0.100 | None | 0 | 1 | ||||||||
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phenotype | Anatomical Abnormality | 31 | 24 | 0.100 | None | 0 | 9 | ||||||||
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disease | Anatomical Abnormality | 97 | 0.100 | None | 0 | ||||||||||
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disease | Anatomical Abnormality | 148 | 18 | 0.020 | None | 1.000 | 2 | 2011 | 2014 | ||||||
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phenotype | Anatomical Abnormality | 1 | 1 | 0.100 | None | 0 | 1 | ||||||||
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disease | Anatomical Abnormality | 26 | 1 | 0.100 | None | 0 | |||||||||
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phenotype | Anatomical Abnormality | 46 | 11 | 0.100 | None | 0 | 3 | ||||||||
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disease | Anatomical Abnormality | 40 | 5 | 0.100 | None | 0 | 3 | ||||||||
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phenotype | Anatomical Abnormality | 24 | 5 | 0.100 | None | 0 | |||||||||
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disease | Finding | 64 | 0.100 | None | 0 | ||||||||||
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phenotype | Congenital Abnormality | 18 | 1 | 0.100 | None | 0 |