Source: CLINVAR

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: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		disease 0.980 None 1.000 6 17 2009 2019
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C1846722
Disease: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 		disease 0.700 strong 1.000 0 1 2012 2012
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C3279899
Disease: Hydrolethalus Syndrome 2
Hydrolethalus Syndrome 2 		disease 0.400 None 1.000 0 1 2011 2011
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 8 1 1980 2015
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 8 1 1980 2015
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C3277723
Disease: JOUBERT SYNDROME 12
JOUBERT SYNDROME 12 		disease 0.100 None 0 2
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C3280899
Disease: JOUBERT SYNDROME 12/15, DIGENIC
JOUBERT SYNDROME 12/15, DIGENIC 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C2112129
Disease: Postaxial foot polydactyly
Postaxial foot polydactyly 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease 0.100 None 0 1