GLI2, GLI family zinc finger 2, 2736

N. diseases: 351; N. variants: 37
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: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 12 0.700 None 1.000 4 12 2003 2015
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME 		disease Disease or Syndrome 2 11 0.710 None 1.000 8 10 2003 2019
CUI: C1856892
Disease: Facial Dysmorphism with Multiple Malformations
Facial Dysmorphism with Multiple Malformations 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2016 2016
CUI: C2910315
Disease: Split foot, bilateral
Split foot, bilateral 		disease Congenital Abnormality 2 0.010 None 1.000 1 2009 2009
CUI: C4020815
Disease: Agenesis of incisor
Agenesis of incisor 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0018987
Disease: Hemimelia
Hemimelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.010 None 1.000 1 1997 1997
CUI: C4020770
Disease: Hypoplasia of the premaxilla
Hypoplasia of the premaxilla 		phenotype Finding 3 0.100 None 0
CUI: C0266215
Disease: Anorectal atresia
Anorectal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2013 2013
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		disease Congenital Abnormality 4 1 0.010 None 1.000 1 1997 1997
CUI: C4013429
Disease: Underdeveloped tragus
Underdeveloped tragus 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C0271858
Disease: Tertiary hyperparathyroidism
Tertiary hyperparathyroidism 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C1859040
Disease: Medullary Cystic Kidney Disease Type 2
Medullary Cystic Kidney Disease Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 5 0.010 None 1.000 1 2005 2005
CUI: C2188153
Disease: Undifferentiated/Unclassified Sarcoma
Undifferentiated/Unclassified Sarcoma 		disease Neoplastic Process 5 0.010 None 1.000 1 2019 2019
CUI: C0685682
Disease: Single naris
Single naris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 5 0.100 None 0
CUI: C4551496
Disease: Hyperuricemic Nephropathy, Familial Juvenile 1
Hyperuricemic Nephropathy, Familial Juvenile 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 6 18 0.020 None 1.000 2 2005 2018
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 6 24 0.300 None 1.000 1 2010 2010
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix 		phenotype Finding 6 0.100 None 0
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 0.010 None 1.000 1 1997 1997
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		disease Congenital Abnormality 7 0.100 None 0
CUI: C4023918
Disease: Short hard palate
Short hard palate 		disease Anatomical Abnormality 7 4 0.100 None 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		disease Finding 7 0.100 None 0
CUI: C0687140
Disease: Hemangioma of skin
Hemangioma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		phenotype Finding 8 0.100 None 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		phenotype Finding 9 0.100 None 0
CUI: C1367420
Disease: Kaposiform Hemangioendothelioma
Kaposiform Hemangioendothelioma 		disease Neoplasms; Infections; Hemic and Lymphatic Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2019 2019