SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
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: C1968843
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.500 None 1.000 3 2003 2013
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: C1845108
Disease: Prominent median palatal raphe
Prominent median palatal raphe 		phenotype Finding 1 0.100 None 0
CUI: C3839990
Disease: Congenital stenosis of nasal pyriform aperture
Congenital stenosis of nasal pyriform aperture 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 1 0.100 None 0
CUI: C0265581
Disease: Longitudinal deficiency of radius
Longitudinal deficiency of radius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.300 None 1.000 1 2015 2015
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: C0266981
Disease: Torus palatinus
Torus palatinus 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 2 0.100 None 0
CUI: C3276742
Disease: Fibular duplication
Fibular duplication 		phenotype Finding 2 0.100 None 0
CUI: C4024338
Disease: Deviation of the hand or of fingers of the hand
Deviation of the hand or of fingers of the hand 		phenotype Musculoskeletal Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C4025390
Disease: Abnormality of the trapezium
Abnormality of the trapezium 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4025397
Disease: Abnormality of the scaphoid
Abnormality of the scaphoid 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0431414
Disease: Sacral dysgenesis
Sacral dysgenesis 		disease Congenital Abnormality 3 0.010 None 1.000 1 2016 2016
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: C4082761
Disease: Abnormality of limb bone morphology
Abnormality of limb bone morphology 		disease Anatomical Abnormality 3 0.010 None 1.000 1 2005 2005
CUI: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		disease Congenital Abnormality 3 1 0.100 None 0
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 0.900 None 1.000 20 35 1995 2013
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 10 0.510 strong 1.000 5 2003 2017
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: 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: 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: 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: C1838610
Disease: Aplasia of the 1st metacarpal
Aplasia of the 1st metacarpal 		phenotype Finding 5 0.100 None 0