GDF3, growth differentiation factor 3, 9573

N. diseases: 74; N. variants: 4
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: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 1 1 0.600 None 1.000 1 1 2010 2010
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		disease Disease or Syndrome 1 2 0.700 None 1.000 1 2 2010 2010
CUI: C4022538
Disease: Cervical C3/C4 vertebral fusion
Cervical C3/C4 vertebral fusion 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		disease Disease or Syndrome 2 3 0.700 None 1.000 1 2 2010 2010
CUI: C4024163
Disease: Abnormal temporal bone morphology
Abnormal temporal bone morphology 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025301
Disease: Cervical C5/C6 vertebrae fusion
Cervical C5/C6 vertebrae fusion 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 7 0.010 None 1.000 1 2013 2013
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2010 2010
CUI: C2931501
Disease: Microphthalmia associated with colobomatous cyst
Microphthalmia associated with colobomatous cyst 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2010 2010
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2010 2010
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 5 0.630 None 1.000 3 2010 2015
CUI: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2005 2005
CUI: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2005 2005
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		disease Anatomical Abnormality 17 2 0.100 None 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal 		phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2005 2005
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: C0266231
Disease: Ectopic anus
Ectopic anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 20 0.100 None 0
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		disease Musculoskeletal Diseases Congenital Abnormality 21 7 0.010 None 1.000 1 2018 2018
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia 		disease Neoplastic Process 22 0.010 None 1.000 1 2009 2009
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype Musculoskeletal Diseases Finding 23 5 0.100 None 0
CUI: C0334520
Disease: Teratoma, Malignant
Teratoma, Malignant 		disease Neoplasms Neoplastic Process 25 0.010 None 1.000 1 2009 2009