GNAI3, G protein subunit alpha i3, 2773

N. diseases: 75; N. variants: 4
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.
Abnormality of the crus of the helix
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
Abnormality of the temporomandibular joint
phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.030 None 1.000 3 2012 2016
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.310 limited 1.000 1 2016 2016
CUI: C0002622
Disease: Amnesia
Amnesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 173 12 0.300 None 1.000 1 2001 2001
CUI: C0750907
Disease: Amnestic State
Amnestic State
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 17 0.300 None 1.000 1 2001 2001
CUI: C0003090
Disease: Ankylosis
Ankylosis
phenotype Musculoskeletal Diseases Pathologic Function 15 0.100 None 0
CUI: C0266060
Disease: Anterior open bite
Anterior open bite
disease Stomatognathic Diseases Anatomical Abnormality 13 0.100 None 0
Aplasia/Hypoplasia of the external ear
phenotype Finding 4 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
disease Otorhinolaryngologic Diseases Disease or Syndrome 4 0.630 strong 0.667 3 2012 2017
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1
disease Otorhinolaryngologic Diseases Disease or Syndrome 4 7 0.700 None 1.000 4 2 1994 2016
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease Congenital Abnormality 97 7 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 2019
Cleft at the superior portion of the pinna
phenotype Finding 2 0.100 None 0
CUI: C4021376
Disease: Cleft helix
Cleft helix
phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.400 None 0
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None 1.000 1 2019 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2017 2017
Congenital ear anomaly NOS (disorder)
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.300 strong 1.000 1 1994 1994
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 45 7 0.100 None 0