POMGNT1, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), 55624
N. diseases: 188; N. variants: 87
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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
disease | Anatomical Abnormality | 27 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 19 | 1 | 0.100 | None | 0 | |||||||||
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disease | Musculoskeletal Diseases | Anatomical Abnormality | 22 | 0.100 | None | 0 | |||||||||
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disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | Disease or Syndrome | 14 | 16 | 0.300 | None | 0 | ||||||||
|
disease | Congenital Abnormality | 97 | 7 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 299 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 117 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 1 | 0.100 | None | 0 | ||||||||||
|
phenotype | Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | Finding | 422 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 7 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 2 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 152 | 6 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 21 | 0.100 | None | 0 | ||||||||||
|
disease | Anatomical Abnormality | 190 | 12 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
|
phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders | Finding | 11 | 6 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 108 | 8 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 215 | 5 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 6 | 0.100 | None | 0 | ||||||||||
|
phenotype | Finding | 779 | 0.100 | None | 0 | ||||||||||
|
phenotype | Organ or Tissue Function | 21 | 2 | 0.100 | None | 0 | |||||||||
|
disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | Mental or Behavioral Dysfunction | 112 | 10 | 0.100 | None | 0 | ||||||||
|
phenotype | Finding | 15 | 1 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 427 | 32 | 0.100 | None | 0 | |||||||||
|
phenotype | Finding | 116 | 5 | 0.100 | None | 0 |