MCID: CRY007
MIFTS: 52

Cryoglobulinemia, Familial Mixed

Categories: Bone diseases, Cardiovascular diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Cryoglobulinemia, Familial Mixed

MalaCards integrated aliases for Cryoglobulinemia, Familial Mixed:

Name: Cryoglobulinemia, Familial Mixed 57 71
Essential Mixed Cryoglobulinemia 19 58 75 71
Cryoglobulinemic Vasculitis 19 58 71 75
Mixed Cryoglobulinemia 19 58 53 71
Essential Cryoglobulinemia 19 58 71
Primary Cryoglobulinemia 19 58 71
Meltzer Syndrome 57 19
Familial Mixed Cryoglobulinemia 19

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Cryoglobulinemic Vasculitis: 1-9/100000 (United States) 58

Age Of Onset:

Cryoglobulinemic Vasculitis: All ages 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases


External Ids:

OMIM® 57 123550
ICD10 via Orphanet 32 D89.1
UMLS via Orphanet 72 C0340992 C0343208 C0543697 more
Orphanet 58 ORPHA91138
MedGen 40 C1852456
UMLS 71 C0272258 C0340992 C0343208 more

Summaries for Cryoglobulinemia, Familial Mixed

GARD: 19 Cryoglobulinemic vasculitis occurs when the body makes a mix of abnormal immune system proteins called cryoglobulins. At temperatures less than 98.6 degrees Fahrenheit (normal body temperature), cryoglobulins become solid or gel-like and can block blood vessels. This causes a variety of health problems. Many people with cryoglobulins will not experience any symptoms. When symptoms occur, they may include purplish discolored skin (purpura), weakness, joint pain, liver disease, and kidney problems. The underlying cause is unknown. Cryoglobulinemic vasculitis is typically associated with a chronic hepatitis C virus (HCV) infection. It is diagnosed based on the results of a clinical exam and the presence of cryoglobulins in the blood.

MalaCards based summary: Cryoglobulinemia, Familial Mixed, also known as essential mixed cryoglobulinemia, is related to membranoproliferative glomerulonephritis and cryoglobulinemia. An important gene associated with Cryoglobulinemia, Familial Mixed is IFNA1 (Interferon Alpha 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Extrafollicular B cell activation by SARS-CoV-2. The drugs Infliximab and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and skin, and related phenotypes are muscle weakness and fever

Orphanet: 58 A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.

Wikipedia 75 Cryoglobulinemic vasculitis: Cryoglobulinemic vasculitis is a form of inflammation affecting the blood vessels caused by the... more...

Essential mixed cryoglobulinemia: Cryoglobulinemia is a medical condition in which the blood contains large amounts of pathological cold... more...

More information from OMIM: 123550

Related Diseases for Cryoglobulinemia, Familial Mixed

Diseases in the Cryoglobulinemia, Familial Mixed family:

Mixed Cryoglobulinemia Type Iii Mixed Cryoglobulinemia Type Ii

Diseases related to Cryoglobulinemia, Familial Mixed via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 372)
# Related Disease Score Top Affiliating Genes
1 membranoproliferative glomerulonephritis 30.4 TSLP IFNA2
2 cryoglobulinemia 30.3 TSLP IFNA2 IFNA1 CD5 CD40LG
3 viral infectious disease 30.0 IFNA2 IFNA1 CD40LG
4 splenomegaly 29.9 IFNA2 IFNA1
5 waldenstroem's macroglobulinemia 29.9 IGHM CD5 CD40LG
6 leukemia, chronic lymphocytic 2 29.9 IGHM CD5
7 autoimmune disease 29.8 IFNA1 ENO1 CD5 CD40LG
8 hepatitis a 29.8 IFNA2 IFNA1
9 burkitt lymphoma 29.7 IFNA1 CD40LG BCR
10 anemia, autoimmune hemolytic 29.7 CD5 CD40LG
11 herpes zoster 29.7 IFNA2 IFNA1
12 diarrhea 29.6 IFNA2 IFNA1 CD40LG
13 hepatitis d 29.5 IFNA2 IFNA1 CD40LG
14 hairy cell leukemia 29.4 IFNA2 IFNA1 CD5
15 agammaglobulinemia, x-linked 29.4 IGHM CD40LG BCR
16 myeloproliferative neoplasm 29.4 IFNA2 IFNA1 BCR
17 common cold 29.4 TSLP IFNA2 IFNA1 CD40LG
18 behcet syndrome 29.1 IFNA2 IFNA1 ENO1 CD40LG
19 leukemia, chronic myeloid 29.0 IFNA2 IFNA1 BCR
20 leukemia, chronic lymphocytic 29.0 IGHM IFNA1 CD5 CD40LG BCR
21 vasculitis 11.1
22 hepatitis c virus 10.7
23 hepatitis c 10.7
24 purpura 10.7
25 glomerulonephritis 10.7
26 peripheral nervous system disease 10.6
27 neuropathy 10.6
28 lymphoma 10.5
29 hepatitis 10.5
30 lymphoma, hodgkin, classic 10.4
31 sjogren syndrome 10.4
32 exanthem 10.4
33 lymphoproliferative syndrome 10.4
34 lymphoma, non-hodgkin, familial 10.4
35 hypersensitivity vasculitis 10.4
36 hepatitis b 10.3
37 systemic scleroderma 10.3
38 scleroderma, familial progressive 10.3
39 acute kidney failure 10.3
40 raynaud disease 10.3
41 myeloma, multiple 10.3
42 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.3
43 liver cirrhosis 10.3
44 polyarteritis nodosa 10.3
45 b-cell non-hodgkin lymphoma 10.3
46 hypothyroidism 10.2
47 urticaria 10.2
48 thyroid carcinoma 10.2
49 infective endocarditis 10.2
50 endocarditis 10.2

Graphical network of the top 20 diseases related to Cryoglobulinemia, Familial Mixed:



Diseases related to Cryoglobulinemia, Familial Mixed

Symptoms & Phenotypes for Cryoglobulinemia, Familial Mixed

Human phenotypes related to Cryoglobulinemia, Familial Mixed:

58 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
2 fever 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001945
3 skin ulcer 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200042
4 petechiae 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000967
5 vasculitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002633
6 mediastinal lymphadenopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100721
7 cutis marmorata 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000965
8 cryoglobulinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100778
9 circulating immune complexes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012224
10 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001744
11 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
12 arthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001369
13 proteinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000093
14 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
15 hematuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000790
16 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
17 arthralgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002829
18 myalgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003326
19 glomerulopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0100820
20 gastrointestinal infarctions 58 30 Frequent (33%) Frequent (79-30%)
HP:0005244
21 gangrene 58 30 Frequent (33%) Frequent (79-30%)
HP:0100758
22 viral hepatitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0006562
23 sensorimotor neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007141
24 mononeuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0009831
25 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
26 keratoconjunctivitis sicca 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001097
27 hypertension 30 HP:0000822
28 purpura 58 Very frequent (99-80%)
29 peripheral neuropathy 58 Frequent (79-30%)
30 abnormality of the liver 58 Frequent (79-30%)
31 abnormality of blood and blood-forming tissues 30 HP:0001871
32 chronic kidney disease 30 HP:0012622
33 anasarca 30 HP:0012050
34 elevated circulating creatinine concentration 30 HP:0003259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Endocrine:
hypertension

Heme:
cryoglobulinemia

G U:
loss of renal function

Lab:
proteinuria
hematuria
elevated serum creatinine

Misc:
anasarca

Clinical features from OMIM®:

123550 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 IFNA1 IFNA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 BCR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.7 IFNA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.7 IFNA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.7 IFNA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.7 IFNA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 BCR IFNA1 IFNA2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-175 9.7 IFNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.7 IFNA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.7 IFNA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.7 BCR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.7 IFNA2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 BCR IFNA2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.7 IFNA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.7 IFNA2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.7 IFNA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.7 IFNA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.7 IFNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 BCR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.7 BCR

MGI Mouse Phenotypes related to Cryoglobulinemia, Familial Mixed:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.55 BCR CD5 IFNA1 IFNA2 IGHM
2 immune system MP:0005387 9.5 BCR CD40LG CD5 IFNA1 IFNA2 IGHM
3 hematopoietic system MP:0005397 9.17 BCR CD40LG CD5 IFNA1 IFNA2 IGHM

Drugs & Therapeutics for Cryoglobulinemia, Familial Mixed

Drugs for Cryoglobulinemia, Familial Mixed (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Infliximab Approved Phase 2 170277-31-3
2
Rituximab Approved Phase 2 174722-31-7
3
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
4 Antibodies, Monoclonal Phase 2
5 Antibodies Phase 2
6 Immunoglobulins Phase 2
7 Dermatologic Agents Phase 2
8 Gastrointestinal Agents Phase 2
9 Antineoplastic Agents, Immunological Phase 2
10 Antirheumatic Agents Phase 2
11 Immunologic Factors Phase 2
12 glucocorticoids Phase 2
13 Antineoplastic Agents, Hormonal Phase 2
14 Hormones Phase 2
15 Hormone Antagonists Phase 2
16 Anti-Inflammatory Agents Phase 2
17 Anti-Infective Agents
18 Antiviral Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rituximab (Anti-CD20) for the Treatment of Hepatitis C Associated Cryoglobulinemic Vasculitis Completed NCT00029107 Phase 2 Rituximab
2 Biologics in Refractory Vasculitis (BIOVAS): A Pragmatic, Randomised, Double-blind, Placebo-controlled, Modified-crossover Trial of Biologic Therapy for Refractory Primary Non-ANCA Associated Vasculitis in Adults and Children Recruiting NCT05168475 Phase 2
3 Isatuximab in Type I Cryoglobulinemia: A Prospective Pilot Study Not yet recruiting NCT05114109 Phase 2 Isatuximab Injection
4 Multicenter Randomized Double-blind Study Comparing the Efficacy and Safety of Rituximab in Combination With Corticosteroids to Corticosteroids Plus Placebo in the Treatment of Non-infectious Active Mixed Cryoglobulinemia Vasculitis Terminated NCT02556866 Phase 2 rituximab;Prednisone;Placebo
5 The Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
6 Impact of Vasculitis on Employment and Income. An Online Survey of Participants in the VCRC Patient Contact Registry Completed NCT02476292
7 Benefit of Direct-acting Antiviral Therapy in Hepatitis C Virus (HCV) Monoinfected and HIV-HCV Coinfected Patients With Mixed Cryoglobulinemia Completed NCT03342261 DAA treatment
8 Prevention of Rituximab Related Flare by Plasmapheresis in Cryoglobulinemic Vascularitis Recruiting NCT04692363
9 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
10 The Vasculitis Pregnancy Registry (V-PREG) Recruiting NCT02593565

Search NIH Clinical Center for Cryoglobulinemia, Familial Mixed

Genetic Tests for Cryoglobulinemia, Familial Mixed

Anatomical Context for Cryoglobulinemia, Familial Mixed

Organs/tissues related to Cryoglobulinemia, Familial Mixed:

MalaCards : Liver, Kidney, Skin, Bone, B Cells, Bone Marrow, Lymph Node

Publications for Cryoglobulinemia, Familial Mixed

Articles related to Cryoglobulinemia, Familial Mixed:

(show top 50) (show all 1783)
# Title Authors PMID Year
1
Inheritance of mixed cryoglobulinemia. 62 57
7294022 1981
2
A shared cryoglobulin antigen in familial cryoglobulinemia. 57
6794362 1981
3
Familial cryoglobulinemia. 57
859235 1977
4
Cryoglobulinemia--a clinical and laboratory study. II. Cryoglobulins with rheumatoid factor activity. 57
4956871 1966
5
Cryoglobulinemia. An inherited molecular disease? 57
13977780 1963
6
Interferon therapy in rheumatic diseases: state-of-the-art 2010. 53 62
20061957 2010
7
Immune signatures in human PBMCs of idiotypic vaccine for HCV-related lymphoproliferative disorders. 53 62
20170491 2010
8
B-cell depletion in the treatment of mixed cryoglobulinemia. 53 62
17936212 2007
9
Thymic stromal lymphopoietin transgenic mice develop cryoglobulinemia and hepatitis with similarities to human hepatitis C liver disease. 53 62
17322382 2007
10
Treatment of hepatitis C virus-associated inflammatory polyneuropathy with pegylated interferon-alpha and ribavirin. 53 62
17206084 2007
11
Overexpression of complement inhibitor Crry does not prevent cryoglobulin-associated membranoproliferative glomerulonephritis. 53 62
15086460 2004
12
Interferon plus ribavirin in patients with hepatitis C virus positive mixed cryoglobulinemia resistant to interferon. 53 62
12913934 2003
13
Monoclonal antibody treatment of mixed cryoglobulinemia resistant to interferon alpha with an anti-CD20. 53 62
12506023 2003
14
Growth factor expression in a murine model of cryoglobulinemia. 53 62
12631122 2003
15
Serum interferon (IFN)-neutralizing antibodies and bioactivities of IFNs in patients with severe type II essential mixed cryoglobulinemia. 53 62
12522042 2003
16
[Hepatitis-C-virus-associated cryoglobulinemia. Pathogenesis, diagnosis and treatment]. 53 62
12386793 2002
17
Cryoglobulinemic glomerulonephritis in thymic stromal lymphopoietin transgenic mice. 53 62
11733384 2001
18
[Characterization of cryoglobulin, M protein, low molecular weight IgM in a patient with chronic hepatitis C and type II mixed cryoglobulinemia]. 53 62
11769562 2001
19
Cryoglobulinemia associated with Purtscher-like retinopathy. 53 62
11384584 2001
20
Treatment of refractory, symptomatic, hepatitis C virus related mixed cryoglobulinemia with ribavirin and interferon-alpha. 53 62
10990230 2000
21
Pre-malignant and malignant lymphoproliferations in an HCV-infected type II mixed cryoglobulinemic patient are sequential phases of an antigen-driven pathological process. 53 62
10861476 2000
22
[Development of cyroglobulinemia and polyneuropathy in a chronic myeloid leukemia patient during interferon-alpha treatment]. 53 62
10355142 1999
23
New concepts in treatment protocols for severe systemic vasculitis. 53 62
9894629 1999
24
Hepatitis C virus and immunoglobulin gene rearrangements: an early step in lymphomagenesis? 53 62
9858787 1998
25
Alpha-enolase is a renal-specific antigen associated with kidney involvement in mixed cryoglobulinemia. 53 62
9444422 1997
26
Exacerbation of peripheral neuropathy during alpha-interferon therapy in a patient with mixed cryoglobulinemia and hepatitis B virus infection. 53 62
8877939 1996
27
Cryoglobulinemia in hepatitis C virus chronic active hepatitis: effects of interferon-alpha therapy. 53 62
8877728 1996
28
Regression of monoclonal B-cell expansion in patients affected by mixed cryoglobulinemia responsive to alpha-interferon therapy. 53 62
8640712 1996
29
Treatment of mixed cryoglobulinemia with recombinant interferon alpha and adjuvant therapies. A prospective study on 20 patients. 53 62
8760684 1996
30
Effects of two different alpha-interferon regimens on clinical and virological findings in mixed cryoglobulinemia. 53 62
8730503 1995
31
Monoclonal IgM rheumatoid factor secreted by CD5-negative B cells during mixed cryoglobulinemia. Evidence for somatic mutations and intraclonal diversity of the expressed VH region gene. 53 62
7527818 1995
32
Hepatitis C virus: the nephrologist's view. 53 62
7810528 1995
33
Resistance to recombinant alpha interferon therapy in idiopathic mixed cryoglobulinemia: reinduction of remission by natural alpha interferon both in antibody-positive and -negative patients. 53 62
7863814 1994
34
Interferon-alpha in mixed cryoglobulinemia patients: a randomized, crossover-controlled trial. 53 62
8382969 1993
35
CD5 negative IGM rheumatoid factor B cells in B-chronic lymphocytic leukemia and benign mixed cryoglobulinemia. 53 62
1282064 1992
36
Complete sequence of the genes encoding the VH and VL regions of low- and high-affinity monoclonal IgM and IgA1 rheumatoid factors produced by CD5+ B cells from a rheumatoid arthritis patient. 53 62
1718404 1991
37
The majority of peripheral blood monoclonal IgM secreting cells are CD5 negative in three patients with mixed cryoglobulinemia. 53 62
1707697 1991
38
Correction to: Management of mixed cryoglobulinemia with rituximab: evidence and consensus-based recommendations from the Italian Study Group of Cryoglobulinemia (GISC). 62
36264401 2022
39
B-cell activating factor (BAFF), BAFF promoter and BAFF receptor allelic variants in hepatitis C virus related Cryoglobulinemic Vasculitis and Non-Hodgkin's Lymphoma. 62
35460540 2022
40
CRYOGLOBULINEMIC VASCULITIS. 62
36272838 2022
41
Off-Label Uses of Rituximab in Dermatology. 62
36217351 2022
42
Management of mixed cryoglobulinemia with rituximab: evidence and consensus-based recommendations from the Italian Study Group of Cryoglobulinemia (GISC). 62
36169798 2022
43
Ischemic Retinopathy with Vitreous Hemorrhage Resembling Diabetic Retinopathy in a Patient with Mixed Cryoglobulinemia. 62
36070568 2022
44
Recognizing the true face of noninfectious cryoglobulinemic glomerulonephritis. 62
35870814 2022
45
Cryoglobulinemia in systemic lupus erythematosus: a retrospective study of 213 patients. 62
35836280 2022
46
Autoimmune Hepatitis Associated With Cryoglobulinemic Vasculitis. 62
35800298 2022
47
A prospective study of direct-acting antiviral effectiveness and relapse risk in HCV cryoglobulinemic vasculitis by the Italian PITER cohort. 62
34919289 2022
48
Relapse of cryoglobulinemic vasculitis with new-onset severe renal involvement in two patients following mRNA COVID-19 vaccination: A case report. 62
35687780 2022
49
A Flare of Hepatitis C Virus-Associated Cryoglobulinemic Vasculitis After COVID-19. 62
35898375 2022
50
Impact of direct-acting antiviral regimens on hepatic and extrahepatic manifestations of hepatitis C virus infection. 62
35978668 2022

Variations for Cryoglobulinemia, Familial Mixed

Expression for Cryoglobulinemia, Familial Mixed

Search GEO for disease gene expression data for Cryoglobulinemia, Familial Mixed.

Pathways for Cryoglobulinemia, Familial Mixed

Pathways related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 TSLP IFNA2 IFNA1 CD40LG
2 11.01 CD40LG BCR
3 10.66 IFNA2 CD40LG
4 10.14 IGHM CD40LG

GO Terms for Cryoglobulinemia, Familial Mixed

Cellular components related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.4 TSLP IGHM IFNA2 IFNA1 ENO1 CD40LG

Biological processes related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 type I interferon-mediated signaling pathway GO:0060337 9.76 IFNA2 IFNA1
2 positive regulation of interleukin-10 production GO:0032733 9.73 TSLP CD40LG
3 T cell costimulation GO:0031295 9.71 CD5 CD40LG
4 response to exogenous dsRNA GO:0043330 9.67 IFNA2 IFNA1
5 T cell activation involved in immune response GO:0002286 9.62 IFNA2 IFNA1
6 positive regulation of peptidyl-serine phosphorylation of STAT protein GO:0033141 9.56 IFNA2 IFNA1
7 natural killer cell activation involved in immune response GO:0002323 9.46 IFNA2 IFNA1
8 B cell differentiation GO:0030183 9.43 IFNA2 IFNA1 CD40LG
9 B cell proliferation GO:0042100 9.1 IFNA2 IFNA1 CD40LG

Molecular functions related to Cryoglobulinemia, Familial Mixed according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 type I interferon receptor binding GO:0005132 9.26 IFNA2 IFNA1
2 cytokine activity GO:0005125 9.23 TSLP IFNA2 IFNA1 CD40LG
3 cytokine receptor binding GO:0005126 9.16 IFNA2 IFNA1

Sources for Cryoglobulinemia, Familial Mixed

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
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40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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