INS, insulin, 3630

N. diseases: 82; N. variants: 29
Source: INFERRED ×
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: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 138 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 381 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 154 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 0.100 None 0
CUI: C1847425
Disease: Abnormal oral glucose tolerance
Abnormal oral glucose tolerance 		phenotype Finding 15 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0
CUI: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		phenotype Finding 42 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 551 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 77 0.100 None 0
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 30 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 146 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1458 0.100 None 0
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 34 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 363 0.100 None 0
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 26 0.100 None 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		phenotype Finding 7 0.100 None 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype Finding 38 0.100 None 0
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		phenotype Finding 12 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		phenotype Finding 14 0.100 None 0
CUI: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c 		phenotype Finding 14 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 104 0.100 None 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		disease Pathologic Function 34 0.100 None 0
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 25 0.100 None 0
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 90 0.100 None 0