NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C0409818
Disease: Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease MGD
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 CausalMutation disease CLINVAR
CUI: C4551895
Disease: Familial Cold Autoinflammatory Syndrome 1
Familial Cold Autoinflammatory Syndrome 1 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria 		0.800 Biomarker disease MGD
CUI: C4521680
Disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 		0.600 CausalMutation disease CLINVAR
CUI: C1835697
Disease: Keratitis Fugax Hereditaria
Keratitis Fugax Hereditaria 		0.400 CausalMutation disease CLINVAR
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0003864
Disease: Arthritis
Arthritis 		0.200 Biomarker disease HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.200 Biomarker group HPO
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.200 Biomarker disease HPO
CUI: C0157742
Disease: Urticaria due to cold and heat
Urticaria due to cold and heat 		0.200 Biomarker disease MGD
CUI: C0015967
Disease: Fever
Fever 		0.190 GeneticVariation phenotype CLINVAR
CUI: C0015967
Disease: Fever
Fever 		0.190 Biomarker phenotype HPO
CUI: C0042109
Disease: Urticaria
Urticaria 		0.160 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.130 Biomarker phenotype HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.120 Biomarker phenotype HPO
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.120 Biomarker disease HPO
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		0.120 Biomarker disease HPO
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		0.120 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.110 Biomarker phenotype HPO