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: 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: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.400 None 1.000 22 1 2000 2017
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 15 5 0.050 None 1.000 5 2003 2009
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: C0001916
Disease: Albinism
Albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 27 0.120 None 1.000 3 2 1995 2014
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.030 None 1.000 3 2010 2014
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: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2019 2019
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
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.020 None 1.000 2 2001 2009
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.310 None 1.000 2 2005 2009
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
disease Finding 166 374 0.100 None 1.000 1 1 2012 2012
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: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2019 2019
CUI: C4531296
Disease: Optic nerve misrouting
Optic nerve misrouting
phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0877306
Disease: Iris hyperpigmentation
Iris hyperpigmentation
phenotype Anatomical Abnormality 1 0.010 None 1.000 1 2009 2009
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease Finding 166 373 0.100 None 1.000 1 1 2012 2012
Malignant neoplasm of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 1 1 2012 2012
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 1 1 2012 2012
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
disease Finding 166 370 0.100 None 1.000 1 1 2012 2012
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 1.000 1 1 2012 2012
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.010 None 1.000 1 2011 2011
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.100 None 1.000 1 1 2012 2012
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 1.000 1 1 2012 2012