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: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 55 3 0.100 None 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		disease Congenital Abnormality 15 0.100 None 0
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect 		disease Congenital Abnormality 20 5 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 0
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: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		group Infections Disease or Syndrome 462 26 0.010 None 1.000 1 2012 2012
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2018 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2016 2016
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.010 None 1.000 1 2008 2008
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.010 None 1.000 1 2006 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.010 None 1.000 1 2018 2018
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 73 23 0.110 None 1.000 1 2013 2013
CUI: C0729353
Disease: Subfertility
Subfertility 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 91 3 0.010 None 1.000 1 2019 2019
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: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.010 None 1.000 1 2006 2006
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: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.010 None 1.000 1 2013 2013
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 57 3 0.100 None 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0