LMOD1, leiomodin 1, 25802

N. diseases: 49; N. variants: 10
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: C3658353
Disease: Nodding Syndrome
Nodding Syndrome
disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C2931117
Disease: Fetal megacystis
Fetal megacystis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 4 0.100 None 1.000 1 1 2017 2017
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis
phenotype Finding 6 2 0.100 None 0
CUI: C1855311
Disease: Megacystis
Megacystis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 8 3 0.100 None 0
CUI: C0149632
Disease: Abnormality of the bladder
Abnormality of the bladder
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 9 2 0.100 None 1.000 1 1 2017 2017
Megacystis microcolon intestinal hypoperistalsis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 9 3 0.310 None 1.000 1 2017 2017
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy
disease Digestive System Diseases Disease or Syndrome 10 19 0.100 None 1.000 1 1 2017 2017
CUI: C0266200
Disease: Microcolon
Microcolon
disease Digestive System Diseases Congenital Abnormality 11 2 0.100 None 1.000 1 1 2017 2017
CUI: C0425782
Disease: Breast size
Breast size
phenotype Finding 16 38 0.100 None 1.000 1 1 2016 2016
CUI: C0018809
Disease: Heart Neoplasm
Heart Neoplasm
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 17 0.100 None 0
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 62 3 0.010 None 1.000 1 2018 2018
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.100 None 0
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 92 10 0.010 None 1.000 1 1998 1998
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
phenotype Finding 104 203 0.100 None 1.000 1 1 2019 2019
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 121 11 0.100 None 0
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma
disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2015 2015
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2015 2015
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 146 7 0.100 None 0
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.010 None 1.000 1 1998 1998
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2015 2015