PLCB4, phospholipase C beta 4, 5332

N. diseases: 89; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome
0.630 Biomarker disease CTD_human
CUI: C3553404
Disease: AURICULOCONDYLAR SYNDROME 2
AURICULOCONDYLAR SYNDROME 2
0.600 GeneticVariation disease CLINVAR
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1
0.600 Biomarker disease HPO
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1
0.600 Biomarker disease CTD_human
CUI: C4551996
Disease: Auriculocondylar syndrome 1
Auriculocondylar syndrome 1
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
0.430 CausalMutation disease CLINVAR
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.400 Biomarker disease HPO
CUI: C0003090
Disease: Ankylosis
Ankylosis
0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea
0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker disease HPO
CUI: C0024636
Disease: Malocclusion
Malocclusion
0.100 Biomarker disease HPO
CUI: C0025210
Disease: Ocular melanosis
Ocular melanosis
0.100 CausalMutation disease CLINVAR
CUI: C0025988
Disease: Microglossia
Microglossia
0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia
0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis
0.100 Biomarker disease HPO
CUI: C0037384
Disease: Snoring
Snoring
0.100 Biomarker phenotype HPO
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 Biomarker disease HPO
CUI: C0239479
Disease: Round face
Round face
0.100 Biomarker phenotype HPO
Congenital ear anomaly NOS (disorder)
0.100 Biomarker group HPO
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
0.100 Biomarker disease HPO