KIF7, kinesin family member 7, 374654

N. diseases: 195; N. variants: 27
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: C1846722
Disease: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 1 2 2012 2012
CUI: C3279899
Disease: Hydrolethalus Syndrome 2
Hydrolethalus Syndrome 2 		disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2011 2011
CUI: C1860165
Disease: Pulmonary valve defects
Pulmonary valve defects 		phenotype Finding 1 0.100 None 0
CUI: C3277723
Disease: JOUBERT SYNDROME 12
JOUBERT SYNDROME 12 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C3280899
Disease: JOUBERT SYNDROME 12/15, DIGENIC
JOUBERT SYNDROME 12/15, DIGENIC 		disease Disease or Syndrome 2 2 0.100 None 0 1
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 2011 2013
CUI: C0426489
Disease: Gingival cleft
Gingival cleft 		phenotype Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.300 None 0
CUI: C1860162
Disease: Bifid distal phalanx of the thumb
Bifid distal phalanx of the thumb 		phenotype Finding 3 0.100 None 0
CUI: C0265766
Disease: Congenital atresia of trachea
Congenital atresia of trachea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 4 0.100 None 0
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 1 0.700 None 1.000 1 2011 2011
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		phenotype Finding 6 0.100 None 0
CUI: C4021370
Disease: Duplication of thumb phalanx
Duplication of thumb phalanx 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		phenotype Finding 8 0.100 None 0
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 22 0.980 None 1.000 13 21 2009 2019
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 6 0.010 None 1.000 1 2017 2017
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		phenotype Finding 9 0.100 None 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		phenotype Finding 9 0.100 None 0
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		phenotype Finding 10 5 0.100 None 0 1
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 29 0.300 None 1.000 1 2011 2011
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		phenotype Finding 11 0.100 None 0
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		disease Congenital Abnormality 14 0.100 None 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		phenotype Finding 14 0.100 None 0