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: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula
phenotype Finding 10 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation
phenotype Anatomical Abnormality 23 0.100 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
phenotype Pathologic Function 87 0.100 0
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 165 27 0.100 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 25 2 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: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.300 strong 0
CUI: C0423414
Disease: Retinal flecking
Retinal flecking
phenotype Finding 7 0.100 0
CUI: C4024799
Disease: Granular macular appearance
Granular macular appearance
phenotype Finding 1 0.100 0
Retinal pigment epithelial abnormality
phenotype Finding 166 2 0.100 0
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.100 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 180 2 0.100 0
CUI: C1837087
Disease: Macular pigmentary changes
Macular pigmentary changes
phenotype Finding 23 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula
phenotype Finding 5 0.100 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.100 0
CUI: C0730290
Disease: Cone dystrophy
Cone dystrophy
disease Disease or Syndrome 47 13 0.100 0
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia
disease Disease or Syndrome 12 1 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 362 15 0.100 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 143 2 0.100 0
CUI: C0028077
Disease: Night Blindness
Night Blindness
disease Eye Diseases Disease or Syndrome 131 18 0.100 0