ALX1, ALX homeobox 1, 8092

N. diseases: 59; N. variants: 1
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: C3150706
Disease: FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA 3 		disease Disease or Syndrome 1 1 0.600 None 1.000 3 1 2010 2016
CUI: C4751077
Disease: Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.300 strong 0
CUI: C1333160
Disease: Lipoma of corpus callosum
Lipoma of corpus callosum 		disease Neoplastic Process 2 0.100 None 0
CUI: C1845147
Disease: Hypoplasia of the frontal bone
Hypoplasia of the frontal bone 		phenotype Finding 2 0.100 None 0
CUI: C4024588
Disease: Aplasia/Hypoplasia of the frontal sinuses
Aplasia/Hypoplasia of the frontal sinuses 		phenotype Finding 2 0.100 None 0
CUI: C4025226
Disease: Pectoral muscle hypoplasia/aplasia
Pectoral muscle hypoplasia/aplasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		phenotype Disease or Syndrome 6 0.100 None 0
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		disease Congenital Abnormality 8 1 0.020 None 1.000 2 2010 2017
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 18 0.010 None 1.000 1 2014 2014
CUI: C0221363
Disease: Bifid nose
Bifid nose 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.100 None 0
CUI: C1853486
Disease: Widow's peak
Widow's peak 		disease Finding 9 0.100 None 0
CUI: C2242656
Disease: HBV coinfection
HBV coinfection 		disease Disease or Syndrome 11 0.010 None 1.000 1 2016 2016
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		phenotype Finding 14 3 0.100 None 0
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 8 0.530 strong 1.000 3 2010 2017
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 5 0.100 None 0
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 21 5 0.010 None 1.000 1 2009 2009
CUI: C0685787
Disease: Cleft face
Cleft face 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.100 None 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 28 0.100 None 0
CUI: C0702169
Disease: Acrania
Acrania 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.010 None 1.000 1 1996 1996
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0
CUI: C0266453
Disease: Exencephaly
Exencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 47 0.010 None 1.000 1 2009 2009
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		phenotype Finding 53 4 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype Congenital Abnormality 79 8 0.100 None 0