PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
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: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2011 2011
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8 0.010 None 1.000 1 2015 2015
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2015 2015
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.010 None 1.000 1 2011 2011
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation
disease Anatomical Abnormality 25 0.100 None 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology
disease Anatomical Abnormality 5 0.100 None 0
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy
disease Congenital Abnormality 39 10 0.060 None 1.000 6 3 2010 2017
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.040 None 1.000 4 2017 2020
Congenital atresia of extrahepatic bile duct
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 172 19 0.040 None 1.000 4 2017 2020
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 2016 2017
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.020 None 1.000 2 2017 2020
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.020 None 1.000 2 2016 2017
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 1 1 0.700 None 1.000 2 1 2008 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2001 2001
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 limited 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy
disease Eye Diseases Disease or Syndrome 211 10 0.100 None 0.923 13 2010 2019
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.190 None 1.000 9 2009 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.080 None 0.875 8 2008 2016
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.110 None 1.000 8 11 2008 2016
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.080 None 1.000 8 2014 2019
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 0.480 None 1.000 8 1 2009 2019
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.180 None 1.000 8 2 2009 2019