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: 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: 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
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: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.110 None 1.000 1 2010 2010
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0685787
Disease: Cleft face
Cleft face
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
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: C1333160
Disease: Lipoma of corpus callosum
Lipoma of corpus callosum
disease Neoplastic Process 2 0.100 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow
phenotype Finding 31 6 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype Congenital Abnormality 79 8 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 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: C1845147
Disease: Hypoplasia of the frontal bone
Hypoplasia of the frontal bone
phenotype Finding 2 0.100 None 0
CUI: C1853486
Disease: Widow's peak
Widow's peak
disease Finding 9 0.100 None 0
CUI: C4025226
Disease: Pectoral muscle hypoplasia/aplasia
Pectoral muscle hypoplasia/aplasia
disease Anatomical Abnormality 2 0.100 None 0
Aplasia/Hypoplasia of the frontal sinuses
phenotype Finding 2 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 0.100 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: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid
phenotype Disease or Syndrome 6 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag
phenotype Finding 53 4 0.100 None 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella
phenotype Finding 14 3 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0