GPC3, glypican 3, 2719

N. diseases: 311; N. variants: 16
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.
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.300 None 0
CUI: C1856659
Disease: Polysplenia
Polysplenia 		disease Congenital Abnormality 15 0.100 None 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 61 18 0.100 None 0
CUI: C1839285
Disease: Two carpal ossification centers present at birth
Two carpal ossification centers present at birth 		phenotype Finding 2 0.100 None 0
CUI: C1839279
Disease: Six lumbar vertebrae
Six lumbar vertebrae 		phenotype Finding 2 0.100 None 0
CUI: C1839277
Disease: Submucous cleft lip
Submucous cleft lip 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 2 0.100 None 0
CUI: C1839276
Disease: Broad secondary alveolar ridge
Broad secondary alveolar ridge 		phenotype Finding 4 0.100 None 0
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 38 12 0.100 None 0
CUI: C1839271
Disease: Birth length greater than 97th percentile
Birth length greater than 97th percentile 		phenotype Finding 6 2 0.100 None 0
CUI: C1839269
Disease: Duplication of renal pelvis
Duplication of renal pelvis 		phenotype Finding 3 0.100 None 0
CUI: C0158779
Disease: Cervical rib
Cervical rib 		disease Congenital Abnormality 11 0.100 None 0
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 55 13 0.100 strong 0 1
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C1866689
Disease: Short sacroiliac notch
Short sacroiliac notch 		phenotype Finding 4 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1850087
Disease: Narrow sacroiliac notch
Narrow sacroiliac notch 		phenotype Finding 7 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 0 1