MALT1, MALT1 paracaspase, 10892

N. diseases: 148; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12 		0.700 Biomarker disease CTD_human
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12 		0.700 CausalMutation disease CLINVAR
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		0.400 FusionGene disease ORPHANET
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.200 Biomarker group HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.120 Biomarker group HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		0.100 Biomarker phenotype HPO
CUI: C0042167
Disease: Uveitis, Posterior
Uveitis, Posterior 		0.100 Biomarker disease HPO
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy 		0.100 Biomarker disease HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		0.100 Biomarker phenotype HPO
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		0.100 Biomarker disease HPO
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland 		0.100 Biomarker phenotype HPO
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		0.400 GeneticVariation disease BEFREE MALT lymphomas are characterized genetically by the t(11;18)(q21;q21) translocation, which yields chimeric transcripts encoding structurally distinct API2/MALT1 fusion proteins. 15184680 2004
CUI: C1333782
Disease: Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma 		0.090 GeneticVariation disease BEFREE Gastric MALT lymphoma with multiple organ involvement is often associated with API2-MALT1 fusion transcripts. 15338367 2004