Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0157742
Disease: Urticaria due to cold and heat
Urticaria due to cold and heat 		disease 0.200 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion 		disease 0.100 None 0 1
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0392699
Disease: Dysesthesia
Dysesthesia 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0344232
Disease: Blurred vision
Blurred vision 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0025289
Disease: Meningitis
Meningitis 		disease 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		group 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0265736
Disease: Congenital anomaly of nose
Congenital anomaly of nose 		disease 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0085582
Disease: Retrobulbar Neuritis
Retrobulbar Neuritis 		disease 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0332563
Disease: Papule
Papule 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C1866241
Disease: Broad foot
Broad foot 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype 0.100 None 0 0