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	cryoglobulinemia

Disease ID	698
Disease	cryoglobulinemia
Definition	A condition characterized by the presence of abnormal quantities of CRYOGLOBULINS in the blood. Upon cold exposure, these abnormal proteins precipitate into the microvasculature leading to restricted blood flow in the exposed areas.
Synonym	cryoglobulinaemia cryoglobulinaemia, nos cryoglobulinemia (disorder) cryoglobulinemia [disease/finding] cryoglobulinemia, nos cryoglobulinemias cryoimmunoglobulinaemia cryoimmunoglobulinemia cryoimmunoglobulinemia, nos
DOID	DOID:2917
ICD10	ICD10CM:D89.1
UMLS	C0010403
MeSH	D003449
SNOMED-CT	SNOMEDCT_US_2016_09_01:30911005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:49) C0019196 \| hepatitis c \| 19 C0019158 \| hepatitis \| 17 C0042384 \| vasculitis \| 12 C0017662 \| membranoproliferative glomerulonephritis \| 9 C0017658 \| glomerulonephritis \| 9 C0235618 \| proliferative glomerulonephritis \| 9 C0442874 \| neuropathy \| 4 C0920350 \| autoimmune thyroiditis \| 4 C0026764 \| multiple myeloma \| 3 C0040147 \| thyroiditis \| 3 C0024299 \| lymphoma \| 3 C0242647 \| mucosa-associated lymphoid tissue \| 2 C0031117 \| peripheral neuropathy \| 2 C0042769 \| virus infection \| 2 C0151436 \| leukocytoclastic vasculitis \| 2 C0019196 \| hepatitis c infection \| 2 C1527336 \| sjogren syndrome \| 1 C0019163 \| hepatitis b \| 1 C0002871 \| anemia \| 1 C0024305 \| non-hodgkin lymphoma \| 1 C1136085 \| monoclonal gammopathy \| 1 C0376545 \| hematological malignancy \| 1 C0151313 \| sensory peripheral neuropathy \| 1 C0155765 \| microangiopathy \| 1 C0024314 \| lymphoproliferative disorders \| 1 C0024419 \| waldenstrom macroglobulinemia \| 1 C0079731 \| b-cell non-hodgkin lymphoma \| 1 C0019196 \| viral hepatitis c \| 1 C0035078 \| renal failure \| 1 C0376545 \| hematologic malignancies \| 1 C0022660 \| acute renal failure \| 1 C0042769 \| viral infections \| 1 C0036416 \| scleritis \| 1 C0018801 \| heart failure \| 1 C0026470 \| monoclonal gammopathy of unknown significance \| 1 C0023895 \| liver disease \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0042721 \| viral hepatitis \| 1 C0024419 \| macroglobulinemia \| 1 C0024312 \| lymphopenia \| 1 C0022658 \| renal disease \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0024314 \| lymphoproliferative disorder \| 1 C0026764 \| myeloma \| 1 C0022116 \| ischaemia \| 1 C0042769 \| viral infection \| 1 C0019829 \| hodgkin lymphoma \| 1 C0026470 \| monoclonal gammopathy of undetermined significance \| 1 C0235025 \| motor neuropathy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3123 \| HLA-DRB1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:44) 58 \| ACTA1 \| 1.45 \| DISEASES 203 \| AK1 \| 1.361 \| DISEASES 23066 \| CAND2 \| 1.293 \| DISEASES 930 \| CD19 \| 2.321 \| DISEASES 959 \| CD40LG \| 6.242 \| DISEASES 921 \| CD5 \| 3.5 \| DISEASES 1041 \| CDSN \| 3.435 \| DISEASES 1378 \| CR1 \| 1.213 \| DISEASES 1380 \| CR2 \| 3.047 \| DISEASES 4283 \| CXCL9 \| 1.75 \| DISEASES 2833 \| CXCR3 \| 2.525 \| DISEASES 1847 \| DUSP5 \| 2.164 \| DISEASES 2213 \| FCGR2B \| 1.758 \| DISEASES 83416 \| FCRL5 \| 2.051 \| DISEASES 84824 \| FCRLA \| 1.968 \| DISEASES 2585 \| GALK2 \| 2.429 \| DISEASES 23193 \| GANAB \| 1.701 \| DISEASES 9563 \| H6PD \| 1.174 \| DISEASES 3119 \| HLA-DQB1 \| 1.044 \| DISEASES 3120 \| HLA-DQB2 \| 1.157 \| DISEASES 3123 \| HLA-DRB1 \| 1.085 \| DISEASES 81502 \| HM13 \| 1.486 \| DISEASES 3440 \| IFNA2 \| 3.456 \| DISEASES 338376 \| IFNE \| 1.959 \| DISEASES 3321 \| IGSF3 \| 1.856 \| DISEASES 133396 \| IL31RA \| 1.601 \| DISEASES 3811 \| KIR3DL1 \| 1.081 \| DISEASES 4099 \| MAG \| 1.776 \| DISEASES 4496 \| MT1H \| 1.818 \| DISEASES 4615 \| MYD88 \| 1.148 \| DISEASES 22978 \| NT5C2 \| 2.21 \| DISEASES 93183 \| PIGM \| 2.2 \| DISEASES 23556 \| PIGN \| 1.346 \| DISEASES 5334 \| PLCL1 \| 2.002 \| DISEASES 6014 \| RIT2 \| 4.787 \| DISEASES 64078 \| SLC28A3 \| 1.531 \| DISEASES 2030 \| SLC29A1 \| 1.505 \| DISEASES 6654 \| SOS1 \| 2.395 \| DISEASES 6660 \| SOX5 \| 1.361 \| DISEASES 54106 \| TLR9 \| 1.576 \| DISEASES 7124 \| TNF \| 1.55 \| DISEASES 8718 \| TNFRSF25 \| 2.128 \| DISEASES 10673 \| TNFSF13B \| 3.201 \| DISEASES 85480 \| TSLP \| 3.368 \| DISEASES
Locus	(Waiting for update.)

Disease ID	698
Disease	cryoglobulinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0012115 \| Liver inflammation \| 18 HP:0002633 \| Vasculitis \| 13 HP:0000793 \| Membranoproliferative glomerulonephritis \| 9 HP:0000099 \| Glomerular nephritis \| 9 HP:0200123 \| Chronic liver inflammation \| 7 HP:0006775 \| Multiple myeloma \| 3 HP:0002665 \| Lymphoma \| 3 HP:0100646 \| Thyroiditis \| 3 HP:0012189 \| Hodgkin disease \| 2 HP:0001919 \| Acute renal failure \| 2 HP:0005523 \| Lymphoproliferative disorder \| 2 HP:0009830 \| Peripheral neuritis \| 2 HP:0000083 \| Renal insufficiency \| 1 HP:0100820 \| Glomerulopathy \| 1 HP:0006562 \| Viral hepatitis \| 1 HP:0100033 \| Tic disorder \| 1 HP:0012122 \| Anterior uveitis \| 1 HP:0012539 \| Non-Hodgkin lymphoma \| 1 HP:0200029 \| Cutaneous vasculitis \| 1 HP:0007141 \| Mixed polyneuropathy \| 1 HP:0005508 \| Waldenstrom macroglobulinemia \| 1 HP:0001903 \| Anemia \| 1 HP:0000554 \| Uveitis \| 1 HP:0001888 \| Lymphocytopenia \| 1 HP:0003281 \| Increased ferritin \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0100532 \| Scleritis \| 1

Disease ID	698
Disease	cryoglobulinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:40) C1963274 \| vasculitis C1960443 \| vasculitic neuropathy C1839611 \| n syndrome C0752303 \| urological manifestations C0748159 \| pulmonary involvement C0684249 \| lung cancer C0581883 \| deafness C0553548 \| necrotizing arteritis C0476481 \| chronic intractable pain C0442874 \| neuropathy C0410000 \| overlap syndrome C0376545 \| hematologic malignancies C0341439 \| chronic liver disease C0262988 \| cutaneous vasculitis C0235031 \| neurologic symptoms C0221030 \| hyperviscosity syndrome C0220847 \| hepatitis c C0156221 \| acute glomerulonephritis C0152025 \| polyneuropathy C0152013 \| adenocarcinoma of the lung C0151295 \| mononeuritis multiplex C0086922 \| rheumatic purpura C0085652 \| pyoderma gangrenosum C0085404 \| poems syndrome C0042769 \| virus infection C0037285 \| skin manifestations C0034735 \| raynaud's syndrome C0034150 \| purpura C0031117 \| peripheral neuropathy C0027697 \| nephritis C0026764 \| multiple myeloma C0025500 \| mesothelioma C0023223 \| leg ulcers C0022658 \| renal disease C0019080 \| hemorrhage C0017662 \| membranoproliferative glomerulonephritis C0017658 \| glomerulonephritis C0007758 \| cerebellar ataxia C0007688 \| central retinal artery occlusion C0003864 \| arthritis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:17) C0019196 \| hepatitis c \| 17 C0042384 \| vasculitis \| 11 C0017658 \| glomerulonephritis \| 7 C0017662 \| membranoproliferative glomerulonephritis \| 7 C0442874 \| neuropathy \| 4 C0026764 \| multiple myeloma \| 3 C0042769 \| virus infection \| 2 C0031117 \| peripheral neuropathy \| 2 C0262988 \| cutaneous vasculitis \| 1 C0023223 \| leg ulcers \| 1 C0022658 \| renal disease \| 1 C0376545 \| hematologic malignancies \| 1 C1960443 \| vasculitic neuropathy \| 1 C0024299 \| lymphoma \| 1 C0019080 \| hemorrhage \| 1 C1839611 \| n syndrome \| 1 C0341439 \| chronic liver disease \| 1

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

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

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1060896	25661337	9975	NR1D2	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	SLC28A2;LOC101928414	15	45262069	C	A
rs1060896	25661337	282617	IFNL3	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	SLC28A2;LOC101928414	15	45262069	C	A
rs1109374	25661337	9975	NR1D2	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	AK4	1	65167814	T	C
rs1109374	25661337	282617	IFNL3	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	AK4	1	65167814	T	C
rs12980275	25661337	282617	IFNL3	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	NA	19	39241143	A	G
rs12980275	25661337	9975	NR1D2	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	NA	19	39241143	A	G
rs1884613	25661337	282617	IFNL3	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	LOC105372629	20	44351775	C	G
rs1884613	25661337	9975	NR1D2	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	LOC105372629	20	44351775	C	G
rs8099917	25661337	282617	IFNL3	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	NA	19	39252525	T	G
rs8099917	25661337	9975	NR1D2	umls:C0010403	BeFree	Non response was negatively predicted by cryoglobulinemia and IL28B_rs12980275 AA genotype and positively by Metavir score; Metavir score, insulin resistance and SLC28A2_rs1060896 CA/AA and HNF4α_rs1884613 CC genotypes were negative predictive factors of SVR, whereas HCV viral load at baseline and IL28B_rs12980275 AA and rs8099917 TT genotypes positively predicted this outcome; RVR was negatively predicted by insulin resistance and positively by cryoglobulinemia and IL28B_rs12980275 AA genotype; Metavir score and insulin resistance were able to negatively predict EVR, whereas cryoglobulinemia and IL28B_rs12980275 AA genotype positively predicted it; at last, virological relapse was negatively predicted by IL28B_rs8099917 TT and AK1_rs1109374 TT genotypes, insulin resistance was a positive predictor factor.	0.000271442	2014	NA	19	39252525	T	G

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	698
Disease	cryoglobulinemia
Case	(Waiting for update.)

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