CRX, cone-rod homeobox, 1406

N. diseases: 128; N. variants: 28
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: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		disease Disease or Syndrome 1 4 0.900 None 1.000 10 4 1998 2014
CUI: C0745109
Disease: Macular hyperpigmentation
Macular hyperpigmentation 		phenotype Finding 2 0.100 None 0
CUI: C0278719
Disease: Extraocular retinoblastoma
Extraocular retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C4015344
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		disease Disease or Syndrome 3 3 0.010 None 1.000 1 2019 2019
CUI: C4304667
Disease: Benign concentric annular macular dystrophy
Benign concentric annular macular dystrophy 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C2985219
Disease: Papillary tumor of the pineal region
Papillary tumor of the pineal region 		disease Neoplasms Neoplastic Process 5 2 0.010 None 1.000 1 2017 2017
CUI: C1333112
Disease: Colorectal Intraepithelial Neoplasia
Colorectal Intraepithelial Neoplasia 		disease Digestive System Diseases; Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		phenotype Eye Diseases Finding 6 5 0.100 None 0 3
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2010 2010
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		disease Eye Diseases Disease or Syndrome 8 0.300 None 1.000 2 1998 1999
CUI: C0281332
Disease: Adult Pineoblastoma
Adult Pineoblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2009 2009
CUI: C3887520
Disease: Childhood Pineoblastoma
Childhood Pineoblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2009 2009
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2015 2015
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		phenotype Finding 14 0.100 None 0
CUI: C0205898
Disease: pineoblastoma
pineoblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 18 6 0.010 None 1.000 1 2009 2009
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 18 1 0.100 None 0
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype Finding 19 4 0.100 None 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		phenotype Finding 21 0.100 None 0
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		phenotype Finding 24 0.100 None 0
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		disease Eye Diseases Disease or Syndrome 24 4 0.100 None 0
CUI: C0031941
Disease: Pineal Gland Neoplasm
Pineal Gland Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 25 2 0.030 None 1.000 3 2009 2017
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 25 2 0.100 None 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		phenotype Finding 25 4 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