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: 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: C4024799
Disease: Granular macular appearance
Granular macular appearance
phenotype Finding 1 0.100 0
Perifoveal ring of hyperautofluorescence
phenotype Finding 1 0.100 0
CUI: C0156372
Disease: Asherman Syndrome
Asherman Syndrome
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 2 0.010 1.000 1 2016 2016
CUI: C0741032
Disease: Refractory angina
Refractory angina
disease Disease or Syndrome 2 0.010 1.000 1 2015 2015
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
disease Eye Diseases Disease or Syndrome 3 1 0.600 5 1 1999 2014
Gastrointestinal stromal tumor of small intestine
disease Neoplastic Process 4 0.010 1.000 1 2011 2011
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula
phenotype Finding 5 0.100 0
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
disease Neoplasms Neoplastic Process 6 1 0.010 1.000 1 2015 2015
CUI: C1516490
Disease: Cholangiolocellular Carcinoma
Cholangiolocellular Carcinoma
disease Neoplastic Process 6 0.010 1.000 1 2008 2008
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Eye Diseases Disease or Syndrome 6 179 0.300 0
Paroxysmal involuntary eye movements
phenotype Finding 6 0.100 0
CUI: C4025849
Disease: Abnormality of the fovea
Abnormality of the fovea
phenotype Anatomical Abnormality 6 0.100 0
CUI: C0423414
Disease: Retinal flecking
Retinal flecking
phenotype Finding 7 0.100 0
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
phenotype Finding 9 0.100 0
CUI: C2937228
Disease: Tunnel visual field constriction
Tunnel visual field constriction
phenotype Disease or Syndrome 9 0.100 0
CUI: C3549703
Disease: Retinal thinning
Retinal thinning
phenotype Finding 9 0.100 0
CUI: C4025836
Disease: Abnormality of the choroid
Abnormality of the choroid
phenotype Anatomical Abnormality 9 0.100 0
CUI: C0206627
Disease: Mixed Tumor, Mullerian
Mixed Tumor, Mullerian
disease Neoplasms Neoplastic Process 10 0.300 1 2012 2012
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 106 0.010 < 0.001 1 2014 2014
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula
phenotype Finding 10 0.100 0
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
recurrent muscle twitches (symptom)
phenotype Sign or Symptom 11 1 0.010 1.000 1 2011 2011
CUI: C0008521
Disease: Choroid Diseases
Choroid Diseases
group Eye Diseases Disease or Syndrome 11 1 0.100 0