SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.520 Biomarker group GENOMICS_ENGLAND
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.470 Biomarker group HPO
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.470 Biomarker group GENOMICS_ENGLAND
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.130 Biomarker group HPO
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.100 Biomarker disease HPO
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.100 GeneticVariation disease CLINVAR
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 GeneticVariation disease CLINVAR
CUI: C0025289
Disease: Meningitis
Meningitis 		0.100 Biomarker disease HPO
CUI: C0025289
Disease: Meningitis
Meningitis 		0.100 GeneticVariation disease CLINVAR
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0302809
Disease: Fulminant hepatitis
Fulminant hepatitis 		0.100 Biomarker disease HPO
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.100 Biomarker phenotype HPO
CUI: C0542571
Disease: Facial edema
Facial edema 		0.100 GeneticVariation disease CLINVAR
CUI: C0747556
Disease: Recurrent pharyngitis
Recurrent pharyngitis 		0.100 Biomarker phenotype HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 GeneticVariation disease CLINVAR