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: 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 6 0.700 None 1.000 3 6 1999 2009
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: C1334557
Disease: Malignant Adult Brain Neoplasm
Malignant Adult Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2020 2020
CUI: C1513718
Disease: Mucin-Producing Intrahepatic Cholangiocarcinoma
Mucin-Producing Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2018 2018
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 7 0.800 None 1.000 1 7 2009 2009
CUI: C0349540
Disease: Astrocytoma of spinal cord
Astrocytoma of spinal cord 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		disease Eye Diseases Disease or Syndrome 3 1 0.720 None 1.000 3 1 2008 2018
CUI: C0741032
Disease: Refractory angina
Refractory angina 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 1 0.020 None 0.500 2 2014 2018
CUI: C0545069
Disease: Intermediate cell carcinoma
Intermediate cell carcinoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2020 2020
CUI: C1292773
Disease: Acute myeloid leukemia with multilineage dysplasia
Acute myeloid leukemia with multilineage dysplasia 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2004 2004
CUI: C0423414
Disease: Retinal flecking
Retinal flecking 		phenotype Finding 5 1 0.100 None 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula 		phenotype Finding 5 0.100 None 0
CUI: C4073099
Disease: Perifoveal ring of hyperautofluorescence
Perifoveal ring of hyperautofluorescence 		phenotype Finding 5 0.100 None 0
CUI: C0156372
Disease: Asherman Syndrome
Asherman Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0.010 None 1.000 1 2015 2015
CUI: C1850808
Disease: Miyoshi myopathy
Miyoshi myopathy 		disease Disease or Syndrome 7 19 0.010 None < 0.001 1 2013 2013
CUI: C4551973
Disease: Miyoshi Muscular Dystrophy 1
Miyoshi Muscular Dystrophy 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 25 0.010 None < 0.001 1 2013 2013
CUI: C4024799
Disease: Granular macular appearance
Granular macular appearance 		phenotype Finding 8 0.100 None 0
CUI: C0221287
Disease: Combined Hepatocellular Carcinoma and Cholangiocarcinoma
Combined Hepatocellular Carcinoma and Cholangiocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2009 2009
CUI: C0242594
Disease: Residual Cancer
Residual Cancer 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2017 2017
CUI: C1266065
Disease: Eccrine porocarcinoma
Eccrine porocarcinoma 		disease Neoplasms Neoplastic Process 11 11 0.010 None 1.000 1 2013 2013
CUI: C1333768
Disease: Gastric Gastrointestinal Stromal Tumor
Gastric Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 11 1 0.010 None 1.000 1 2017 2017
CUI: C1740787
Disease: Cardiac autonomic neuropathy
Cardiac autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2019 2019
CUI: C3549703
Disease: Retinal thinning
Retinal thinning 		phenotype Finding 11 0.100 None 0
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula 		phenotype Finding 11 0.100 None 0