Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		disease 0.740 definitive 1.000 6 14 2002 2015
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		disease 0.320 None 1.000 3 0 2002 2012
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease 0.310 None 1.000 1 0 2012 2012
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0266453
Disease: Exencephaly
Exencephaly 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0702169
Disease: Acrania
Acrania 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0151491
Disease: Congenital musculoskeletal anomalies
Congenital musculoskeletal anomalies 		group 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		disease 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group 0.300 None 1.000 1 0 1997 1997
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		disease 0.300 strong 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 2 0 2017 2019
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 1 0 2010 2010
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.110 None < 0.001 1 0 2018 2018
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 5 1 2005 2016
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 5 1 2005 2016
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 5 1 2005 2016
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype 0.100 None 1.000 1 1 2019 2019