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: 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: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 71 16 0.300 None 0
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: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
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: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0
CUI: C2673597
Disease: Congenital localized absence of skin
Congenital localized absence of skin 		disease Congenital Abnormality 6 0.100 None 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.100 None 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.100 None 0
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 287 99 0.010 None 1.000 1 2004 2004
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 1998 1998
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: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 103 24 0.010 None 1.000 1 2019 2019
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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2015 2015
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: C0334342
Disease: Skin appendage adenoma
Skin appendage adenoma 		disease Neoplasms Neoplastic Process 13 2 0.010 None 1.000 1 2018 2018
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 122 34 0.010 None 1.000 1 2004 2004
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.010 None 1.000 1 2019 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2020 2020
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018