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: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.030 None 1.000 3 1 1995 2008
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		disease Disease or Syndrome 1 2 0.610 strong 1.000 3 2 2008 2018
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.010 None 1.000 1 2014 2014
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		disease Disease or Syndrome 2 3 0.600 None 1.000 1 1 2007 2007
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		disease Disease or Syndrome 1 4 0.700 None 1.000 1 4 2013 2013
CUI: C0342526
Disease: Absent testes
Absent testes 		phenotype Finding 24 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 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: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype Finding 30 2 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype Finding 73 2 0.100 None 0
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		phenotype Finding 5 2 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 25 4 0.100 None 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		phenotype Finding 26 4 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
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
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