TULP1, TUB like protein 1, 7287

N. diseases: 80; N. variants: 20
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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.500 strong 1.000 14 4 1998 2018
Autosomal recessive retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.080 None 1.000 8 1 1998 2014
CUI: C1838603
Disease: Retinitis Pigmentosa 14
Retinitis Pigmentosa 14
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 11 0.910 None 1.000 8 11 1997 2010
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.660 strong 1.000 7 1 1999 2016
Amaurosis congenita of Leber, type 1
disease Eye Diseases Disease or Syndrome 81 60 0.140 None 1.000 5 2 2007 2017
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.120 None 1.000 2 1998 2000
CUI: C3151206
Disease: LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 15
disease Disease or Syndrome 1 4 0.700 None 1.000 2 4 2004 2007
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.120 None 1.000 2 1 1997 2015
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2016 2016
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.100 None 1.000 1 1 2017 2017
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.110 None 1.000 1 2016 2016
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.010 None 1.000 1 2016 2016
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome
disease Disease or Syndrome 25 2 0.010 None 1.000 1 2013 2013
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 15 5 0.100 None 1.000 1 1 2017 2017
CUI: C0730307
Disease: Cancer-Associated Retinopathy
Cancer-Associated Retinopathy
disease Neoplasms; Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum
disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.100 None 1.000 1 1 2017 2017
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 9 0.100 None 1.000 1 1 2017 2017
CUI: C1531646
Disease: Central topographic island
Central topographic island
disease Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
disease Eye Diseases Disease or Syndrome 136 16 0.010 None 1.000 1 2014 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2016 2016
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 1997 1997
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.010 None 1.000 1 2016 2016
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.010 None 1.000 1 1997 1997
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.310 limited 1.000 1 2014 2014
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 0