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.
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C1865302
Disease: Cleft at the superior portion of the pinna
Cleft at the superior portion of the pinna 		phenotype Finding 2 0.100 None 0
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 4 2 0.100 None 0
CUI: C0399570
Disease: Mandibular condyle aplasia
Mandibular condyle aplasia 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
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: C0266060
Disease: Anterior open bite
Anterior open bite 		disease Stomatognathic Diseases Anatomical Abnormality 13 0.100 None 0
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		phenotype Finding 10 7 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		phenotype Finding 14 0.100 None 0
CUI: C1865305
Disease: Hypoplastic superior helix
Hypoplastic superior helix 		phenotype Finding 4 0.100 None 0
CUI: C0431420
Disease: Vein of Galen aneurysm
Vein of Galen aneurysm 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		phenotype Neoplasms; Stomatognathic Diseases Finding 18 1 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 740 337 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 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
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		phenotype Finding 8 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		phenotype Finding 53 4 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		phenotype Finding 23 3 0.100 None 0