SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 171; N. variants: 7
Source: BEFREE ×
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: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 14 0.010 None 1.000 1 1996 1996
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		disease Neoplasms Neoplastic Process 175 6 0.010 None 1.000 1 1998 1998
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 10 0.010 None 1.000 1 1998 1998
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 3 0.010 None 1.000 1 1998 1998
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 1998 1998
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.020 None 1.000 2 1996 2000
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 291 122 0.020 None 1.000 2 1998 2000
CUI: C0795803
Disease: Chromosome 2, trisomy 2p
Chromosome 2, trisomy 2p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.010 None 1.000 1 2000 2000
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 45 9 0.010 None 1.000 1 2000 2000
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 121 3 0.010 None 1.000 1 2000 2000
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 72 6 0.020 None 1.000 2 1999 2002
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 116 12 0.010 None 1.000 1 2003 2003
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 856 25 0.010 None 1.000 1 2003 2003
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst 		disease Neoplasms Neoplastic Process 28 0.010 None 1.000 1 2004 2004
CUI: C0685869
Disease: Monophthalmos
Monophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 6 0.010 None 1.000 1 2005 2005
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2005 2005
CUI: C4082761
Disease: Abnormality of limb bone morphology
Abnormality of limb bone morphology 		disease Anatomical Abnormality 2 0.010 None 1.000 1 2005 2005
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 17 0.410 strong 1.000 1 2003 2005
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		disease Neoplasms Neoplastic Process 59 6 0.010 None 1.000 1 2006 2006
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 56 21 0.010 None 1.000 1 2006 2006
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2006 2006
CUI: C0017152
Disease: Gastritis
Gastritis 		disease Digestive System Diseases Disease or Syndrome 268 18 0.010 None 1.000 1 2006 2006
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2006 2006
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 2 1 0.720 strong 1.000 2 1 2001 2007
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		disease Infections Disease or Syndrome 334 56 0.010 None 1.000 1 2007 2007