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: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 2 0.920 None 1.000 6 2 1999 2014
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 3 0.920 strong 1.000 5 3 1999 2014
CUI: C1846496
Disease: Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C3898473
Disease: Malignant biliary obstruction
Malignant biliary obstruction 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C4551964
Disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 2014 2014
CUI: C4021520
Disease: Abnormal cerebral artery morphology
Abnormal cerebral artery morphology 		disease Anatomical Abnormality 3 1 0.100 None 0
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: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 2 0.010 None 1.000 1 2014 2014
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: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 13 1 0.010 None 1.000 1 2012 2012
CUI: C1868950
Disease: Multiple myeloma progression
Multiple myeloma progression 		disease Neoplastic Process 17 0.010 None 1.000 1 2018 2018
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 28 2 0.030 None 1.000 3 2010 2014
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 32 2 0.030 None 1.000 3 2007 2014
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: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 61 18 0.010 None 1.000 1 2012 2012
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: 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: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin 		disease Neoplasms Neoplastic Process 103 3 0.010 None 1.000 1 2017 2017
CUI: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone 		disease Neoplasms Neoplastic Process 113 3 0.010 None 1.000 1 2017 2017
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
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: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.010 None 1.000 1 2015 2015
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2000 2000