TULP1, TUB like protein 1, 7287

N. diseases: 80; N. variants: 20
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: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15 		disease Disease or Syndrome 1 4 0.700 None 1.000 2 4 2004 2007
CUI: C1531646
Disease: Central topographic island
Central topographic island 		disease Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 11 0.910 None 1.000 8 11 1997 2010
CUI: C2176208
Disease: Retinal arteriolar constriction
Retinal arteriolar constriction 		phenotype Finding 3 0.100 None 0
CUI: C4022576
Disease: Slow pupillary light response
Slow pupillary light response 		phenotype Finding 4 0.100 None 0
CUI: C0730307
Disease: Cancer-Associated Retinopathy
Cancer-Associated Retinopathy 		disease Neoplasms; Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 15 5 0.100 None 1.000 1 1 2017 2017
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		phenotype Finding 21 0.100 None 0
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		phenotype Finding 24 1 0.100 None 1.000 1 1 2017 2017
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		phenotype Finding 24 0.100 None 0
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		disease Disease or Syndrome 25 2 0.010 None 1.000 1 2013 2013
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype Finding 25 1 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: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype Finding 30 2 0.100 None 0
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 9 0.100 None 1.000 1 1 2017 2017
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.100 None 1.000 1 1 2017 2017
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 1.000 1 1 2017 2017
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 1.000 2 2000 2001
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.010 None 1.000 1 2016 2016
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 61 7 0.100 None 0 1
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.100 None 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.140 None 1.000 5 2 2007 2017
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.080 None 1.000 8 1 1998 2014
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.660 strong 1.000 7 1 1999 2016