INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
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: C0266054
Disease: Premature tooth eruption
Premature tooth eruption
phenotype Finding 12 0.100 None 0
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.300 strong 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 63 2 0.100 None 0
CUI: C0024433
Disease: Macrostomia
Macrostomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule
phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 139 20 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess
phenotype Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Finding 20 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 92 27 0.100 None 0
CUI: C0263536
Disease: Hypertrophy of nail
Hypertrophy of nail
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.100 None 0
Small for gestational age (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.100 None 0