BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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: C0026636
Disease: Mouth Diseases
Mouth Diseases 		group Stomatognathic Diseases Disease or Syndrome 17 0.300 None 1.000 1 2007 2007
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0
CUI: C0031036
Disease: Polyarteritis Nodosa
Polyarteritis Nodosa 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 70 0.010 None 1.000 1 2018 2018
CUI: C3887654
Disease: POLYARTERITIS NODOSA, CHILDHOOD-ONSET
POLYARTERITIS NODOSA, CHILDHOOD-ONSET 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 63 12 0.010 None 1.000 1 2018 2018
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 114 12 0.020 None 1.000 2 2002 2004
CUI: C0085750
Disease: Adenosis of Breast
Adenosis of Breast 		disease Skin and Connective Tissue Diseases Neoplastic Process 26 0.010 None 1.000 1 2002 2002
CUI: C0221228
Disease: Comedone
Comedone 		disease Skin and Connective Tissue Diseases Disease or Syndrome 53 0.010 None 1.000 1 2012 2012
CUI: C1334753
Disease: Breast Microglandular Adenosis
Breast Microglandular Adenosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.010 None 1.000 1 2015 2015
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.010 None 1.000 1 1998 1998
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 61 13 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.030 None 1.000 3 2012 2017
CUI: C4317171
Disease: Adolescent Obesity
Adolescent Obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 18 9 0.010 None 1.000 1 2008 2008
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 limited 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2015 2015
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.060 None 0.667 6 2007 2018
CUI: C0278076
Disease: Behavioral tic
Behavioral tic 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 31 2 0.020 None 1.000 2 2006 2017
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.010 None 1.000 1 2019 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2019 2019
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2019 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2017 2017
CUI: C0270823
Disease: Petit mal status
Petit mal status 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 0.010 None 1.000 1 2015 2015