SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
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: C1834877
Disease: HOLOPROSENCEPHALY 2 (disorder)
HOLOPROSENCEPHALY 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 12 0.920 None 1.000 11 11 1999 2011
CUI: C0265740
Disease: Arrhinia
Arrhinia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.100 None 0
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 14 0.300 strong 1.000 1 2000 2000
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
HOLOPROSENCEPHALY 4 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 9 0.100 None 0 1
CUI: C4021638
Disease: Absent nasal septal cartilage
Absent nasal septal cartilage
disease Anatomical Abnormality 3 0.100 None 0
CUI: C3711749
Disease: Nonsyndromic Holoprosencephaly
Nonsyndromic Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2010 2010
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 37 0.100 None 0 2
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0685869
Disease: Monophthalmos
Monophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 6 0.010 None 1.000 1 2000 2000
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis
phenotype Finding 8 0.100 None 0
CUI: C0266484
Disease: Schizencephaly
Schizencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 6 0.610 None 1.000 2 2 2008 2010
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate
disease Congenital Abnormality 15 0.100 None 0
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 16 0.500 None 1.000 1 1999 1999
Pituitary stalk interruption syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.010 None 1.000 1 2013 2013
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis
phenotype Finding 16 0.100 None 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 5 0.500 None 1.000 1 1999 1999
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 20 3 0.110 None 1.000 1 2001 2001
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect
disease Congenital Abnormality 20 5 0.100 None 0
CUI: C0152424
Disease: Common ventricle
Common ventricle
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 22 5 0.100 None 0
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia
phenotype Finding 23 1 0.100 None 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.300 None 1.000 1 1999 1999
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.110 None 1.000 1 2000 2000
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 37 2 0.500 None 1.000 1 1999 1999
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge
phenotype Finding 47 2 0.100 None 0