GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion
disease Anatomical Abnormality 67 2 0.030 None 1.000 3 1 1995 2008
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0920299
Disease: Overriding toe
Overriding toe
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves
disease Anatomical Abnormality 17 2 0.100 None 0
CUI: C4022510
Disease: Cervicomedullary schisis
Cervicomedullary schisis
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4024163
Disease: Abnormal temporal bone morphology
Abnormal temporal bone morphology
disease Anatomical Abnormality 2 0.100 None 0
Abnormal vertebral segmentation and fusion
disease Anatomical Abnormality 11 0.100 None 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
disease Anatomical Abnormality 17 0.100 None 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder
disease Anatomical Abnormality 8 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.130 None 1.000 3 2007 2012
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.020 None 1.000 2 2007 2012
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.020 None 1.000 2 1 2016 2018
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.110 None 1.000 1 2014 2014
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.300 None 1.000 1 1988 1988
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation
disease Musculoskeletal Diseases Congenital Abnormality 40 6 0.010 None 1.000 1 2008 2008
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 41 1 0.010 None 1.000 1 2013 2013
CUI: C4274282
Disease: Nanophthalmia
Nanophthalmia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.010 None < 0.001 1 2010 2010
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality 19 6 0.100 None 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.100 None 0