MNX1, motor neuron and pancreas homeobox 1, 3110

N. diseases: 113; N. variants: 9
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.
Altman type IV sacrococcygeal teratoma
disease Neoplastic Process 1 0.110 None 1.000 1 2011 2011
CUI: C0236124
Disease: Gastrointestinal obstruction
Gastrointestinal obstruction
phenotype Digestive System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C0277792
Disease: Pathognomonic sign
Pathognomonic sign
phenotype Sign or Symptom 2 0.010 None 1.000 1 2013 2013
CUI: C2677632
Disease: Hemisacrum
Hemisacrum
disease Anatomical Abnormality 2 0.110 None 1.000 1 2007 2007
CUI: C1867776
Disease: Anterior sacral meningocele
Anterior sacral meningocele
phenotype Finding 2 0.100 None 0
CUI: C0205929
Disease: Anal Fistula
Anal Fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 3 0.100 None 0
CUI: C1855652
Disease: Fetus Small for Gestational Age
Fetus Small for Gestational Age
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 4 2 0.300 strong 1.000 1 2013 2013
CUI: C4524209
Disease: Lumbodynia
Lumbodynia
phenotype Sign or Symptom 4 0.010 None 1.000 1 2007 2007
CUI: C4024660
Disease: Aplasia/Hypoplasia of the sacrum
Aplasia/Hypoplasia of the sacrum
phenotype Finding 4 0.100 None 0
Poorly Differentiated Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2011 2011
CUI: C0031019
Disease: Perianal abscess
Perianal abscess
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0266411
Disease: Septate vagina
Septate vagina
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 6 0.100 None 0
CUI: C1531773
Disease: Currarino triad
Currarino triad
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 7 7 0.800 strong 0.885 26 7 1995 2018
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma
disease Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process 7 0.110 None 1.000 1 2011 2011
CUI: C0009730
Disease: Spinal meningocele
Spinal meningocele
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 2003 2003
CUI: C0025299
Disease: Meningocele
Meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2003 2003
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 12 1 0.050 None 0.800 5 1998 2013
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 15 1 0.040 None 1.000 4 1998 2013
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine
phenotype Finding 19 0.100 None 0
DIABETES MELLITUS, PERMANENT NEONATAL
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 0.010 None 1.000 1 2013 2013
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 27 6 0.100 None 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE
phenotype Finding 27 0.100 None 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 28 1 0.100 None 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
disease Congenital Abnormality 30 2 0.100 None 0