PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
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: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2 		disease Disease or Syndrome 1 9 0.600 strong 1.000 2 9 2012 2013
CUI: C0025210
Disease: Ocular melanosis
Ocular melanosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 1 0.100 None 0 1
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: C0399570
Disease: Mandibular condyle aplasia
Mandibular condyle aplasia 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 3 0.100 None 0
CUI: C4021376
Disease: Cleft helix
Cleft helix 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4021380
Disease: Abnormality of the crus of the helix
Abnormality of the crus of the helix 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		disease Otorhinolaryngologic Diseases Disease or Syndrome 4 0.630 moderate 1.000 3 2012 2017
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1 		disease Otorhinolaryngologic Diseases Disease or Syndrome 4 7 0.600 moderate 1.000 1 5 2012 2012
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		phenotype Musculoskeletal Diseases; Stomatognathic Diseases Finding 4 2 0.100 None 0
CUI: C1865305
Disease: Hypoplastic superior helix
Hypoplastic superior helix 		phenotype Finding 4 0.100 None 0
CUI: C1865318
Disease: Abnormality of the temporomandibular joint
Abnormality of the temporomandibular joint 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4024626
Disease: Aplasia/Hypoplasia of the external ear
Aplasia/Hypoplasia of the external ear 		phenotype Finding 4 0.100 None 0
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits 		disease Congenital Abnormality 5 1 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: C3887548
Disease: Central Apnea
Central Apnea 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 8 2 0.010 None < 0.001 1 2013 2013
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		phenotype Finding 8 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: C0003090
Disease: Ankylosis
Ankylosis 		phenotype Musculoskeletal Diseases Pathologic Function 15 0.100 None 0
CUI: C0206736
Disease: Nevus, Blue
Nevus, Blue 		disease Neoplasms Neoplastic Process 17 1 0.020 None 1.000 2 2017 2019
CUI: C0376300
Disease: Dengue Shock Syndrome
Dengue Shock Syndrome 		disease Infections Disease or Syndrome 18 9 0.010 None 1.000 1 2018 2018
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		phenotype Neoplasms; Stomatognathic Diseases Finding 18 1 0.100 None 0
CUI: C0025988
Disease: Microglossia
Microglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.100 None 0
CUI: C0037384
Disease: Snoring
Snoring 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 0.100 None 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		phenotype Finding 23 3 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis 		disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 0