HOXA1, homeobox A1, 3198

N. diseases: 95; N. variants: 5
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: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology 		disease Anatomical Abnormality 3 1 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 182 3 0.010 None 1.000 1 1998 1998
CUI: C1832932
Disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 1998 1998
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.300 None 1.000 1 1999 1999
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 1999 1999
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 1999 1999
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2000 2000
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		disease Neoplasms Neoplastic Process 560 4 0.010 None 1.000 1 2000 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2002 2002
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.020 None 1.000 2 2003 2004
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 2005 2005
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.020 None 1.000 2 2007 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.020 None 1.000 2 2006 2007
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2007 2007
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None 1.000 1 2007 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.390 None 0.889 9 1 2000 2009
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 0.020 None 1.000 2 2005 2011
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia 		disease Neoplasms Neoplastic Process 80 17 0.010 None 1.000 1 2011 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2011 2011
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Sign or Symptom 44 2 0.010 None 1.000 1 2011 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.040 None 1.000 4 1 2000 2012