CDHR1, cadherin related family member 1, 92211

N. diseases: 48; N. variants: 8
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: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
phenotype Neoplasms Neoplastic Process 267 3 0.010 None 1.000 1 2002 2002
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2008 2008
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
disease Eye Diseases Disease or Syndrome 48 31 0.010 None 1.000 1 2017 2017
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis
disease Eye Diseases Disease or Syndrome 10 5 0.010 None 1.000 1 1 2019 2019
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 44 16 0.010 None 1.000 1 2008 2008
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.010 None 1.000 1 2012 2012
CUI: C2931208
Disease: Usher syndrome, type 1D
Usher syndrome, type 1D
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2005 2005
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum
disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.020 None 1.000 2 2018 2019
Autosomal recessive retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.030 None 1.000 3 2005 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.040 None 0.750 4 2013 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.100 None 1.000 1 1 2019 2019
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 158 10 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C3552852
Disease: RETINITIS PIGMENTOSA 65
RETINITIS PIGMENTOSA 65
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0