BMS1, BMS1 ribosome biogenesis factor, 9790

N. diseases: 192; N. variants: 3
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: C0795950
Disease: Corpus callosum agenesis neuronopathy
Corpus callosum agenesis neuronopathy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 41 0.020 None 1.000 2 2007 2008
CUI: C1456332
Disease: Stimulant abuse
Stimulant abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 3 1 0.010 None < 0.001 1 2018 2018
CUI: C1970112
Disease: Aplasia cutis congenita over the scalp vertex
Aplasia cutis congenita over the scalp vertex 		disease Congenital Abnormality 3 0.100 None 0
CUI: C0278139
Disease: Moderate pain
Moderate pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 6 1 0.010 None 1.000 1 2017 2017
CUI: C2673597
Disease: Congenital localized absence of skin
Congenital localized absence of skin 		disease Congenital Abnormality 6 0.100 None 0
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 7 0.300 None 0
CUI: C1332167
Disease: Adenoid cystic breast carcinoma
Adenoid cystic breast carcinoma 		disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2017 2017
CUI: C0334342
Disease: Skin appendage adenoma
Skin appendage adenoma 		disease Neoplasms Neoplastic Process 13 2 0.010 None 1.000 1 2018 2018
CUI: C0266574
Disease: Ablepharon
Ablepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 20 1 0.010 None 1.000 1 2018 2018
CUI: C0026265
Disease: Diseases of mitral valve
Diseases of mitral valve 		group Cardiovascular Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2017 2017
CUI: C0233477
Disease: Dysphoric mood
Dysphoric mood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 22 6 0.010 None 1.000 1 2018 2018
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C1266086
Disease: Polymorphous low grade adenocarcinoma
Polymorphous low grade adenocarcinoma 		disease Neoplastic Process 23 1 0.010 None 1.000 1 2011 2011
CUI: C3544321
Disease: Treatment-resistant schizophrenia
Treatment-resistant schizophrenia 		disease Mental or Behavioral Dysfunction 23 2 0.010 None 1.000 1 2019 2019
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 25 7 0.010 None 1.000 1 2019 2019
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 25 35 0.010 None 1.000 1 2019 2019
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 29 2 0.300 None 0
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 34 3 0.020 None 1.000 2 1995 1997
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0
CUI: C1696708
Disease: Prehypertension
Prehypertension 		disease Cardiovascular Diseases Disease or Syndrome 41 5 0.010 None 1.000 1 2019 2019
CUI: C0333693
Disease: Triploidy syndrome
Triploidy syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 42 0.010 None 1.000 1 2008 2008
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 44 110 0.010 None 1.000 1 2004 2004
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 45 78 0.010 None 1.000 1 2019 2019
CUI: C3665365
Disease: Arteriosclerotic cardiovascular disease, NOS
Arteriosclerotic cardiovascular disease, NOS 		disease Cardiovascular Diseases Disease or Syndrome 58 5 0.060 None 1.000 6 2017 2019