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: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0520571
Disease: Fibrosis of bile duct
Fibrosis of bile duct 		disease Digestive System Diseases Disease or Syndrome 13 0.020 None 1.000 2 2017 2019
CUI: C0334192
Disease: Atrophic endometrium
Atrophic endometrium 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 13 0.010 None 1.000 1 2015 2015
CUI: C0153453
Disease: Malignant tumor of extrahepatic bile duct
Malignant tumor of extrahepatic bile duct 		disease Digestive System Diseases; Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C0206627
Disease: Mixed Tumor, Mullerian
Mixed Tumor, Mullerian 		disease Neoplasms Neoplastic Process 14 0.300 None 1.000 1 2011 2011
CUI: C0854776
Disease: Pancreatic carcinoma non-resectable
Pancreatic carcinoma non-resectable 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2019 2019
CUI: C4331229
Disease: Recurrent Glioma
Recurrent Glioma 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2016 2016
CUI: C1516490
Disease: Cholangiolocellular Carcinoma
Cholangiolocellular Carcinoma 		disease Neoplasms Neoplastic Process 16 1 0.010 None 1.000 1 2008 2008
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		phenotype Finding 16 2 0.100 None 0
CUI: C1321865
Disease: Juvenile astrocytoma
Juvenile astrocytoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2020 2020
CUI: C0700367
Disease: Ependymoblastoma
Ependymoblastoma 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2014 2014
CUI: C1332183
Disease: Adult Astrocytic Tumor
Adult Astrocytic Tumor 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2020 2020
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		phenotype Finding 19 4 0.100 None 0
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		disease Disease or Syndrome 19 1 0.100 None 0
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 101 0.010 None 1.000 1 2017 2017
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		phenotype Finding 21 0.100 None 0
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		disease Neoplasms; Eye Diseases; Nervous System Diseases Neoplastic Process 22 9 0.010 None 1.000 1 2017 2017
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 23 317 0.400 None 1.000 2 1 2008 2019
CUI: C0085423
Disease: Gram-Negative Bacterial Infections
Gram-Negative Bacterial Infections 		group Infections Disease or Syndrome 24 3 0.010 None 1.000 1 2018 2018
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 97 0.020 None 1.000 2 2017 2019
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		disease Disease or Syndrome 25 2 0.010 None 1.000 1 1 2010 2010
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		phenotype Finding 25 4 0.100 None 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
recurrent muscle twitches (symptom) 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 26 7 0.020 None 1.000 2 2011 2017
CUI: C0346619
Disease: Malignant neoplasm of cardioesophageal junction of stomach
Malignant neoplasm of cardioesophageal junction of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2019 2019