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	t-cell large granular lymphocyte leukemia

Disease ID	1366
Disease	t-cell large granular lymphocyte leukemia
Definition	A T-cell peripheral neoplasm characterized by a persistent (>6 months) increase in the number of peripheral blood large granular lymphocytes, without a clearly identified cause. (WHO, 2001)
Synonym	[m] t-gamma lymphoproliferative disease [m]t-gamma lymphoproliferative disease granular lymphocytoses, large granular lymphocytosis, large large cell granular lymphogenous leukemia large cell granular lymphoid leukemia large granular lymphocytoses leukemia, large granular lymphocytic, malignant leukemia, t cell large granular lymphocytic leukemia, t lgl leukemia, t-cell large granular lymphocytic leukemia, t-gamma lymphoproliferative disorder leukemia, t-lgl leukemias, t-lgl lgll lymphocytoses, large granular lymphocytosis, large granular lymphoproliferative disorder, t-gamma t cell large granular lymphocyte leukemia t cell large granular lymphocytic leukemia t gamma lymphoproliferative disorder t lgl leukemia t-cell large gran. lymph. leuk. t-cell large granular lymphocytic leukaemia t-cell large granular lymphocytic leukemia t-cell large granular lymphocytic leukemia (disorder) t-cell large granular lymphocytic leukemia (morphologic abnormality) t-cell large granular lymphocytosis t-gamma lymphoproliferative disease t-gamma lymphoproliferative disease (morphologic abnormality) t-gamma lymphoproliferative disorder t-gamma-lymphoproliferative disorder t-lgl leukemia t-lgl leukemias tgamma large granular lymphocyte leukemia
Orphanet	ORPHANET:86872
DOID	DOID:0050751
UMLS	C1955861
SNOMED-CT	SNOMEDCT_US_2016_09_01:699818003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0034902 \| pure red cell aplasia \| 3 C0003873 \| rheumatoid arthritis \| 3 C0281963 \| red cell aplasia \| 3 C0030312 \| bone marrow failure \| 2 C0003864 \| arthritis \| 2 C0023443 \| hairy cell leukemia \| 1 C0040028 \| essential thrombocythemia \| 1 C0024314 \| lymphoproliferative disorder \| 1 C0027947 \| neutropenia \| 1 C0004623 \| bacterial infections \| 1 C1527336 \| sjogren's syndrome \| 1 C0004623 \| bacterial infection \| 1 C0040034 \| thrombocytopenia \| 1 C0021053 \| immune disorders \| 1 C0021053 \| immune disorder \| 1 C0018854 \| franklin disease \| 1 C0205969 \| malignant thymoma \| 1 C0024299 \| lymphoma \| 1 C0007570 \| celiac disease \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0002871 \| anemia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 238 \| ALK \| 1.34 \| DISEASES 567 \| B2M \| 1.349 \| DISEASES 9774 \| BCLAF1 \| 1.061 \| DISEASES 914 \| CD2 \| 2.721 \| DISEASES 921 \| CD5 \| 3.033 \| DISEASES 1043 \| CD52 \| 2.345 \| DISEASES 965 \| CD58 \| 1.609 \| DISEASES 1154 \| CISH \| 1.069 \| DISEASES 2920 \| CXCL2 \| 1.252 \| DISEASES 30816 \| ERVW-1 \| 1.105 \| DISEASES 355 \| FAS \| 1.425 \| DISEASES 356 \| FASLG \| 2.456 \| DISEASES 2214 \| FCGR3A \| 2.884 \| DISEASES 2268 \| FGR \| 1.854 \| DISEASES 26762 \| HAVCR1 \| 1.193 \| DISEASES 3459 \| IFNGR1 \| 1.901 \| DISEASES 3718 \| JAK3 \| 1.187 \| DISEASES 3824 \| KLRD1 \| 1.494 \| DISEASES 3932 \| LCK \| 2.616 \| DISEASES 4217 \| MAP3K5 \| 1.28 \| DISEASES 100507436 \| MICA \| 1.103 \| DISEASES 4791 \| NFKB2 \| 1.736 \| DISEASES 10401 \| PIAS3 \| 2.157 \| DISEASES 93035 \| PKHD1L1 \| 3.774 \| DISEASES 5527 \| PPP2R5C \| 3.016 \| DISEASES 5788 \| PTPRC \| 1.755 \| DISEASES 11122 \| PTPRT \| 1.212 \| DISEASES 5867 \| RAB4A \| 2.252 \| DISEASES 6305 \| SBF1 \| 3.008 \| DISEASES 10019 \| SH2B3 \| 1.81 \| DISEASES 83650 \| SLC35G5 \| 1.636 \| DISEASES 6714 \| SRC \| 1.648 \| DISEASES 6772 \| STAT1 \| 1.338 \| DISEASES 6863 \| TAC1 \| 1.119 \| DISEASES 7072 \| TIA1 \| 2.052 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1366
Disease	t-cell large granular lymphocyte leukemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0012410 \| Pure red cell aplasia \| 4 HP:0001370 \| Rheumatoid arthritis \| 3 HP:0001369 \| Arthritis \| 2 HP:0005528 \| Bone marrow hypoplasia \| 2 HP:0002608 \| Celiac disease \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0001903 \| Anemia \| 1 HP:0001873 \| Low platelet count \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0002665 \| Lymphoma \| 1 HP:0005523 \| Lymphoproliferative disorder \| 1 HP:0001875 \| Neutropenia \| 1

Disease ID	1366
Disease	t-cell large granular lymphocyte leukemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1608408 \| malignant transformation C0270932 \| paraneoplastic neuropathy C0033680 \| protein-losing enteropathy C0027947 \| neutropenia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0034902 \| pure red cell aplasia \| 1 C0027947 \| neutropenia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	24689848	6774	STAT3	umls:C1955861	BeFree	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.	0.002985861	2014	BRAF	7	140753336	A	T,G,C
rs113488022	24689848	387	RHOA	umls:C1955861	BeFree	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.	0.000271442	2014	BRAF	7	140753336	A	T,G,C
rs371896760	24689848	387	RHOA	umls:C1955861	BeFree	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.	0.000271442	2014	ACAA1;MYD88	3	38138714	G	T
rs371896760	24689848	6774	STAT3	umls:C1955861	BeFree	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.	0.002985861	2014	ACAA1;MYD88	3	38138714	G	T
rs387907272	24689848	6774	STAT3	umls:C1955861	BeFree	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.	0.002985861	2014	MYD88	3	38141150	T	C
rs387907272	24689848	387	RHOA	umls:C1955861	BeFree	They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.	0.000271442	2014	MYD88	3	38141150	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1366
Disease	t-cell large granular lymphocyte leukemia
Case	(Waiting for update.)

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