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: C1836189
Disease: Radial deviation of finger
Radial deviation of finger 		phenotype Finding 42 0.100 None 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level 		phenotype Finding 14 0.100 None 0
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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 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: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		phenotype Finding 38 0.100 None 0
CUI: C1856904
Disease: Reduced pancreatic beta cells
Reduced pancreatic beta cells 		phenotype Finding 7 0.100 None 0
CUI: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c 		phenotype Finding 14 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: 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: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		disease Pathologic Function 34 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
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734 0.100 None 0
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder) 		disease Disease or Syndrome 16 0.100 None 0
CUI: C1969879
Disease: Limb joint contracture
Limb joint contracture 		phenotype Finding 10 0.100 None 0
CUI: C1969875
Disease: Beta-cell dysfunction
Beta-cell dysfunction 		phenotype Finding 6 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: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 0.100 None 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype Eye Diseases Finding 50 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 0.100 None 0
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		phenotype Finding 10 0.100 None 0
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.100 None 0