PROM1, prominin 1, 8842

N. diseases: 306; 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: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 4 0.600 7 4 1999 2016
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.600 6 6 2000 2015
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
disease Eye Diseases Disease or Syndrome 3 1 0.600 5 1 1999 2014
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 5 1 1999 2014
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease Neoplasms Neoplastic Process 77 1 0.300 3 2008 2010
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 169 25 0.100 1 1 2013 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.200 1 2001 2001
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms
group Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 23 0.300 1 2012 2012
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group Disease or Syndrome 39 0.200 1 2009 2009
CUI: C0751003
Disease: Brain Aneurysm
Brain Aneurysm
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 28 34 0.100 1 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.100 1 1 2015 2015
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.010 1 2008 2008
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 63 4 0.300 1 2012 2012
CUI: C0206627
Disease: Mixed Tumor, Mullerian
Mixed Tumor, Mullerian
disease Neoplasms Neoplastic Process 10 0.300 1 2012 2012
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia
disease Disease or Syndrome 12 1 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.100 0
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 165 27 0.100 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 204 8 0.100 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.100 0
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease Eye Diseases Disease or Syndrome 13 292 0.300 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram
phenotype Finding 20 0.100 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
phenotype Finding 9 0.100 0
Paroxysmal involuntary eye movements
phenotype Finding 6 0.100 0
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 187 1 0.100 0