SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
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: C1854630
Disease: Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 42 0.110 None 1.000 1 1 2015 2015
CUI: C1853099
Disease: Cornelia de Lange Syndrome 3
Cornelia de Lange Syndrome 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 20 0.600 None 1.000 5 20 2014 2019
CUI: C1802395
Disease: Congenital muscular hypertrophy-cerebral syndrome
Congenital muscular hypertrophy-cerebral syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 50 0.300 None 0
CUI: C4024172
Disease: Abnormality of hair pigmentation
Abnormality of hair pigmentation 		phenotype Finding 5 2 0.100 None 0 1
CUI: C0005874
Disease: Blushing
Blushing 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 8 1 0.010 None 1.000 1 2017 2017
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 266 0.300 None 0
CUI: C0031575
Disease: Phocomelia
Phocomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 9 1 0.010 None 1.000 1 2008 2008
CUI: C0025160
Disease: Megacolon
Megacolon 		phenotype Digestive System Diseases Pathologic Function 9 9 0.100 None 0 1
CUI: C1185616
Disease: Hair whorls
Hair whorls 		phenotype Finding 9 5 0.100 None 0 1
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 28 0.020 None 1.000 2 2008 2011
CUI: C0271007
Disease: Phthisis bulbi
Phthisis bulbi 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 11 0.100 None 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		phenotype Finding 11 0.100 None 0
CUI: C1849955
Disease: Limited elbow movement
Limited elbow movement 		phenotype Finding 13 0.100 None 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		phenotype Finding 15 0.100 None 0
CUI: C4073184
Disease: Thick hair
Thick hair 		phenotype Finding 16 3 0.100 None 0
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		disease Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2013 2013
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		disease Congenital Abnormality 18 3 0.100 None 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 1 0.100 None 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 0.100 None 0
CUI: C0242526
Disease: Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, 45,X 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 23 0.010 None 1.000 1 2014 2014
CUI: C3150077
Disease: Mild short stature
Mild short stature 		phenotype Finding 25 8 0.100 None 0 1
CUI: C0728895
Disease: Absent finger
Absent finger 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 30 5 0.100 None 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		phenotype Pathological Conditions, Signs and Symptoms Finding 30 2 0.100 None 0