CRB1, crumbs cell polarity complex component 1, 23418

N. diseases: 116; N. variants: 111
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: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 38 0.930 None 1.000 38 38 1999 2017
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8
disease Disease or Syndrome 2 42 0.910 None 1.000 44 42 1999 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.800 strong 0.971 34 11 2001 2019
Pigmented Paravenous Chorioretinal Atrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 2 0.720 None 1.000 3 2 2005 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.700 strong 0.970 33 14 1999 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.320 None 1.000 3 2009 2014
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.320 None 1.000 3 2004 2015
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.310 limited 1.000 1 2017 2017
Retinal Pigment Epithelial Detachment
disease Eye Diseases Disease or Syndrome 17 3 0.300 None 1.000 1 2001 2001
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.300 None 1.000 1 2001 2001
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 23 6 0.300 None 1.000 1 2001 2001
Congenital Amaurosis of Retinal Origin
disease Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2001 2001
Amaurosis congenita of Leber, type 1
disease Eye Diseases Disease or Syndrome 81 60 0.200 None 0.967 30 6 2001 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.200 None 1.000 26 12 1999 2019
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 2003 2007
Idiopathic Juxtafoveal Retinal Telangiectasia
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.200 None 1.000 1 2015 2015
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.140 None 1.000 4 2002 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.130 None 1.000 3 2012 2017
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.130 None 1.000 3 2009 2019
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.120 None 1.000 2 1 2006 2011
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Eye Diseases Disease or Syndrome 52 59 0.110 None 1.000 3 6 2004 2018
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 17 32 0.100 None 1.000 4 1 2013 2017
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 2 2017 2019
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 1.000 1 1 2019 2019
CUI: C0523688
Disease: Hemopexin measurement
Hemopexin measurement
phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2017 2017