BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
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: C0277331
Disease: Disease due to Acanthocephala
Disease due to Acanthocephala 		disease Infections Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4021632
Disease: Facial telangiectasia in butterfly midface distribution
Facial telangiectasia in butterfly midface distribution 		phenotype Finding 2 0.100 None 0
CUI: C1832586
Disease: DERMATITIS HERPETIFORMIS, FAMILIAL
DERMATITIS HERPETIFORMIS, FAMILIAL 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 4 0.010 None 1.000 1 2009 2009
CUI: C1849950
Disease: Agenesis of maxillary lateral incisor
Agenesis of maxillary lateral incisor 		phenotype Finding 5 1 0.100 None 0
CUI: C3806179
Disease: Spotty hyperpigmentation
Spotty hyperpigmentation 		phenotype Finding 5 0.100 None 0
CUI: C1563697
Disease: Chromosome Instability Syndromes
Chromosome Instability Syndromes 		disease Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation 		phenotype Finding 6 1 0.100 None 0
CUI: C0376628
Disease: Chromosome Breakage
Chromosome Breakage 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 17 0.100 None 0
CUI: C3468041
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 22 73 0.010 None 1.000 1 2017 2017
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		phenotype Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding 23 0.100 None 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		disease Congenital Abnormality 31 1 0.010 None 1.000 1 2008 2008
CUI: C0040188
Disease: Tic disorder
Tic disorder 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 33 4 0.010 None 1.000 1 2015 2015
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 99 0.010 None 1.000 1 2017 2017
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 35 12 0.050 None 1.000 5 2001 2012
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		disease Eye Diseases Disease or Syndrome 39 11 0.010 None 1.000 1 1 2013 2013
CUI: C0334633
Disease: Malignant lymphoma - lymphoplasmacytic
Malignant lymphoma - lymphoplasmacytic 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 53 10 0.010 None 1.000 1 2014 2014
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 63 18 0.020 None 1.000 2 2001 2005
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 0
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 1 2013 2013
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		disease Eye Diseases Disease or Syndrome 69 11 0.010 None 1.000 1 1 2013 2013
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 0.100 None 0