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: C0341154
Disease: Esophageal atresia with tracheoesophageal fistula (disorder)
Esophageal atresia with tracheoesophageal fistula (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
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: C0431414
Disease: Sacral dysgenesis
Sacral dysgenesis 		disease Congenital Abnormality 2 0.010 None 1.000 1 2016 2016
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: 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: 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: C1707400
Disease: Classic medulloblastoma
Classic medulloblastoma 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2014 2014
CUI: C0014013
Disease: Empyema, Pleural
Empyema, Pleural 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0549306
Disease: Mesomelia
Mesomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 4 1 0.010 None 1.000 1 2014 2014
CUI: C1868114
Disease: POLYDACTYLY, PREAXIAL II (disorder)
POLYDACTYLY, PREAXIAL II (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 4 0.510 strong 1.000 1 2003 2017
CUI: C4330667
Disease: Medulloblastoma, Non-WNT/Non-SHH
Medulloblastoma, Non-WNT/Non-SHH 		disease Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.410 strong 1.000 1 2003 2010
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: 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: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 1 0.010 None 1.000 1 2016 2016
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: 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: C1367420
Disease: Kaposiform Hemangioendothelioma
Kaposiform Hemangioendothelioma 		disease Neoplasms; Infections; Hemic and Lymphatic Diseases Neoplastic Process 10 0.010 None 1.000 1 2019 2019
CUI: C2698045
Disease: Merkel Cell Polyomavirus Infection
Merkel Cell Polyomavirus Infection 		disease Infections Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 13 0.120 None 1.000 2 2008 2017
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2014 2014
CUI: C1735591
Disease: VACTERL Association
VACTERL Association 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality 15 0.010 None 1.000 1 2019 2019
CUI: C0795839
Disease: Chromosome 10, monosomy 10q
Chromosome 10, monosomy 10q 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 4 0.010 None 1.000 1 2013 2013
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: C0751297
Disease: Leptomeningeal Neoplasms
Leptomeningeal Neoplasms 		disease Neoplasms; Nervous System Diseases Neoplastic Process 17 3 0.010 None 1.000 1 2017 2017