GPR143, G protein-coupled receptor 143, 4935

N. diseases: 47; N. variants: 29
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: C0585539
Disease: X-Linked Infantile Nystagmus
X-Linked Infantile Nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 6 4 0.040 None 1.000 4 2008 2015
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: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.010 None 1.000 1 2018 2018
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 18 1 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype Mental Disorders Finding 73 6 0.100 None 0 1
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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 2019 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2019 2019
CUI: C4531296
Disease: Optic nerve misrouting
Optic nerve misrouting 		phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.010 None 1.000 1 2010 2010
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 38 24 0.800 None 0.974 38 24 1995 2020
CUI: C4025788
Disease: Nystagmus-induced head nodding
Nystagmus-induced head nodding 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.400 strong 1.000 1 2009 2009
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.400 strong 1.000 1 2009 2009
CUI: C3151752
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED
NYSTAGMUS 6, CONGENITAL, X-LINKED 		disease Disease or Syndrome 1 2 0.700 None 1.000 3 2 2007 2011
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.440 strong 1.000 5 1 2001 2015
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2003 2003
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.100 None 1.000 1 1 2012 2012
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 1 1 2012 2012
CUI: C0877306
Disease: Iris hyperpigmentation
Iris hyperpigmentation 		phenotype Anatomical Abnormality 1 0.010 None 1.000 1 2009 2009
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.020 None 1.000 2 2001 2009
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease Eye Diseases Disease or Syndrome 9 5 0.100 None 0