MCID: MLT077
MIFTS: 73

Multiple Sclerosis, Disease Progression, Modifier of

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Multiple Sclerosis, Disease Progression, Modifier of

MalaCards integrated aliases for Multiple Sclerosis, Disease Progression, Modifier of:

Name: Multiple Sclerosis, Disease Progression, Modifier of 54 13 38
Multiple Sclerosis 38 12 50 24 25 51 71 52 41 42 14 69
Ms 50 24 25 71
Multiple Sclerosis Modifier of Disease Progression 29
Light Fixation Seizure Syndrome 69
Generalized Multiple Sclerosis 12
Disseminated Sclerosis 25
Multiple Sclerosis 1 54
Insular Sclerosis 12
M Syndrome 52

Characteristics:

OMIM:

54
Inheritance:
multifactorial

Miscellaneous:
onset 20-55 years of age
women affected more than men (3:2)
association with the hla-drb1*1501-dqb1*0602 haplotype has been repeatedly demonstrated in high-risk (northern european) populations.


HPO:

32
multiple sclerosis, disease progression, modifier of:
Inheritance multifactorial inheritance


Classifications:



Summaries for Multiple Sclerosis, Disease Progression, Modifier of

NINDS : 51 An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted.  Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus. Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye.  Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance.  These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis.  Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations.  Some may also experience pain.  Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked.  Depression is another common feature of MS.

MalaCards based summary : Multiple Sclerosis, Disease Progression, Modifier of, also known as multiple sclerosis, is related to progressive relapsing multiple sclerosis and dysphagia, and has symptoms including spasticity, diplopia and emotional lability. An important gene associated with Multiple Sclerosis, Disease Progression, Modifier of is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include Neural Tube and Limb, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

NIH Rare Diseases : 50 multiple sclerosis (ms) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. the disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells. the symptoms vary widely from person to person, and may include sensory disturbances in the limbs, problems with muscle control, tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness, difficulty walking, poor bladder control, and vision problems. most patients have periods during which they have symptoms (clinical attacks). the clinical attacks are typically followed by periods without any symptoms (remission). after several years, the symptoms worsen continuously. multiple sclerosis is considered an autoimmune disorder but the exact cause is unknown. risk factors for developing multiple sclerosis include genetic factors like changes in the hla-drb1 gene and in the il7r gene and environmental factors, such as exposure to the epstein-barr virus, low levels of vitamin d, and smoking. the goal of treatment of ms is to decrease attacks and the inflammation within the central nervous system. last updated: 11/21/2015

UniProtKB/Swiss-Prot : 71 Multiple sclerosis: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease.

MedlinePlus : 41 multiple sclerosis (ms) is a nervous system disease that affects your brain and spinal cord. it damages the myelin sheath, the material that surrounds and protects your nerve cells. this damage slows down or blocks messages between your brain and your body, leading to the symptoms of ms. they can include visual disturbances muscle weakness trouble with coordination and balance sensations such as numbness, prickling, or "pins and needles" thinking and memory problems no one knows what causes ms. it may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. multiple sclerosis affects women more than men. it often begins between the ages of 20 and 40. usually, the disease is mild, but some people lose the ability to write, speak, or walk. there is no single test for ms. doctors use a medical history, physical exam, neurological exam, mri, and other tests to diagnose it. there is no cure for ms, but medicines may slow it down and help control symptoms. physical and occupational therapy may also help. nih: national institute of neurological disorders and stroke

Genetics Home Reference : 25 Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.

Disease Ontology : 12 A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.

Description from OMIM: 126200

Related Diseases for Multiple Sclerosis, Disease Progression, Modifier of

Diseases related to Multiple Sclerosis, Disease Progression, Modifier of via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 565)
id Related Disease Score Top Affiliating Genes
1 progressive relapsing multiple sclerosis 34.9 CD40LG CXCR3 IFNB1 IL10 IL4 MBP
2 dysphagia 33.3 IFNG IL10 TNF
3 myelitis 31.8 CXCR3 IFNG IL10
4 lymphoma 31.4 CD40LG IFNG IL10 IL17A IL4 TNF
5 rheumatoid arthritis 31.3 CD40LG HLA-DQB1 HLA-DRB1 IFNG IL10 IL17A
6 systemic lupus erythematosus 31.2 CD40 CD40LG CXCR3 HLA-DQB1 HLA-DRB1 IFNG
7 cryptococcosis 31.0 CD40LG HLA-DQB1 HLA-DRB1 IL10 IL17A TNF
8 cerebellar disease 30.9 CXCR3 IFNG IL10 IL17A IL4 TNF
9 pulmonary embolism 30.8 CD40LG IFNG IL10 TNF
10 subcorneal pustular dermatosis 30.8 CD40LG HLA-DQB1 IL4
11 status epilepticus 30.7 AQP4 IFNG IL4 MBP MOG TNF
12 malaria 30.3 CD40 CD40LG CHIT1 CXCR3 HLA-DRB1 IFNG
13 kaposi sarcoma 29.7 CD40LG HLA-DRB1 TNF
14 relapsing-remitting multiple sclerosis 12.3
15 secondary progressive multiple sclerosis 12.2
16 primary progressive multiple sclerosis 12.2
17 tumefactive multiple sclerosis 12.2
18 multiple sclerosis 3 12.2
19 charlie m syndrome 12.1
20 multiple sclerosis 5 12.1
21 pediatric multiple sclerosis 12.0
22 marburg acute multiple sclerosis 11.9
23 multiple sclerosis 2 11.8
24 multiple sclerosis 4 11.8
25 multiple sclerosis-ichthyosis-factor viii deficiency syndrome 11.8
26 leukodystrophy, adult-onset, autosomal dominant 11.5
27 biemond syndrome 11.3 HLA-DQB1 HLA-DRB1 TNF
28 alopecia intellectual disability syndrome 2 11.3 MBP MOG PLP1
29 trigeminal neuralgia 11.3
30 optic neuritis 11.3
31 autoimmune retinopathy 11.3 HLA-DQB1 HLA-DRB1 TNF
32 cogan-reese syndrome 11.3 AQP4 IFNB1 MBP
33 limb-body wall complex 11.3 HLA-DQB1 HLA-DRB1 TNF
34 mosaic trisomy 1 11.3 HLA-DQB1 HLA-DRB1 IFNG TNF
35 mazabraud syndrome 11.2 HLA-DQB1 HLA-DRB1 IFNG
36 clear cell adenocarcinoma of ovary 11.2 HLA-DQB1 HLA-DRB1 IL17A
37 acute ackee fruit intoxication 11.2 IL10 IL4 TNF
38 pellagra like syndrome 11.2 HLA-DQB1 HLA-DRB1 ITGA4 MOG
39 papillary squamous carcinoma 11.2 HLA-DQB1 HLA-DRB1 IFNG IL10
40 idiopathic dilatation of the pulmonary artery 11.2 HLA-DQB1 IL10 TNF
41 eye accommodation disease 11.2 IFNG IL10 IL4
42 mixed cell adenoma 11.2 AQP4 IFNB1 MBP MOG
43 moderately severe hemophilia b 11.2 HLA-DQB1 HLA-DRB1 IL10 TNF
44 basidiobolomycosis 11.2 IL10 IL4 TNF
45 primary systemic mycosis 11.2 IFNG IL17A TNF
46 lagophthalmos 11.2 IL10 IL4 TNF
47 dumping syndrome 11.2 CD40LG IFNG IL10
48 lung disease 11.2 CD40LG IL17A TNF
49 thelaziasis 11.2 IFNG IL10 IL4
50 diabetic peripheral angiopathy 11.2 AQP4 CD40LG IFNB1 MOG

Comorbidity relations with Multiple Sclerosis, Disease Progression, Modifier of via Phenotypic Disease Network (PDN):


Acute Cystitis Decubitus Ulcer
Neurogenic Bladder Paraplegia
Trigeminal Neuralgia

Graphical network of the top 20 diseases related to Multiple Sclerosis, Disease Progression, Modifier of:



Diseases related to Multiple Sclerosis, Disease Progression, Modifier of

Symptoms & Phenotypes for Multiple Sclerosis, Disease Progression, Modifier of

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
spasticity
emotional lability
depression
high intensity area in white matter on head mri
cognitive dysfunction
more
Neurologic- Peripheral Nervous System:
paresthesias
weakness
sensory loss
incoordination

Laboratory- Abnormalities:
increased csf immunoglobulin levels
oligoclonal bands in csf
myelin basic protein in csf

Head And Neck- Eyes:
diplopia
vision loss, monocular

Genitourinary- Bladder:
hesitancy
incontinence
incomplete bladder emptying


Clinical features from OMIM:

126200

Human phenotypes related to Multiple Sclerosis, Disease Progression, Modifier of:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 diplopia 32 HP:0000651
3 emotional lability 32 HP:0000712
4 muscle weakness 32 HP:0001324
5 depression 32 HP:0000716
6 urinary incontinence 32 HP:0000020
7 incoordination 32 HP:0002311
8 paresthesia 32 HP:0003401
9 urinary hesitancy 32 HP:0000019
10 cns demyelination 32 HP:0007305

UMLS symptoms related to Multiple Sclerosis, Disease Progression, Modifier of:


back pain, headache, hemiplegia, muscle cramp, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Multiple Sclerosis, Disease Progression, Modifier of according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 IL10 IL17A MX1 PDCD1 TNF CD40LG
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 IL17A MX1 PDCD1 TNF CD40LG HLA-DQB1

MGI Mouse Phenotypes related to Multiple Sclerosis, Disease Progression, Modifier of:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.45 AQP4 CD40 CD40LG CXCR3 HLA-DQB1 IFNB1
2 immune system MP:0005387 10.45 IFNB1 IFNG IL10 IL17A IL4 ITGA4
3 homeostasis/metabolism MP:0005376 10.39 AQP4 CD40 CD40LG CXCR3 HLA-DQB1 IFNB1
4 cellular MP:0005384 10.36 CD40LG CXCR3 HLA-DQB1 IFNG IL10 IL4
5 mortality/aging MP:0010768 10.3 IL10 AQP4 CD40LG CXCR3 HLA-DQB1 IFNG
6 endocrine/exocrine gland MP:0005379 10.28 AQP4 CD40 CD40LG HLA-DQB1 IFNG IL10
7 cardiovascular system MP:0005385 10.26 TNF AQP4 CD40LG CXCR3 HLA-DQB1 IFNG
8 nervous system MP:0003631 10.25 AQP4 CD40 CD40LG HLA-DQB1 IFNB1 IFNG
9 muscle MP:0005369 10.03 HLA-DQB1 IFNG IL10 MOG NR1H3 PDCD1
10 liver/biliary system MP:0005370 10.02 HLA-DQB1 IFNG IL10 IL4 NR1H3 PDCD1
11 normal MP:0002873 10.02 CD40 CXCR3 HLA-DQB1 IFNB1 IFNG IL10
12 renal/urinary system MP:0005367 9.97 IL4 PDCD1 AQP4 CD40 CD40LG CXCR3
13 reproductive system MP:0005389 9.91 IFNG IL10 IL4 MBP NR1H3 PLP1
14 respiratory system MP:0005388 9.81 AQP4 CXCR3 HLA-DQB1 IFNG IL10 IL17A
15 skeleton MP:0005390 9.65 PDCD1 PLP1 TNF CD40 CD40LG IFNB1
16 vision/eye MP:0005391 9.28 AQP4 IFNG IL10 IL4 MBP MOG

Drugs & Therapeutics for Multiple Sclerosis, Disease Progression, Modifier of

Search Clinical Trials , NIH Clinical Center for Multiple Sclerosis, Disease Progression, Modifier of

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Multiple Sclerosis, Disease Progression, Modifier of:
Autologous bone marrow-derived hematopoietic stem cells for the treatment of multiple sclerosis
Bone marrow-derived mesenchymal stem cell transplantation for multiple sclerosis
Bone marrow-derived mesenchymal stem cell transplantation for treatment of multiple sclerosis
Bone marrow-derived stromal cells for multiple sclerosis
Epiblast stem cell-derived oligodendrocyte progenitor cells for multiple sclerosis
FCRx, bioengineered hematopoietic stem cells for immunological tolerance
Hematopoietic stem cells for multiple sclerosis
MultiStem
NU211-01/NU215-02, umbilical cord mesenchymal stem cells for multiple sclerosis and neuromyelitis optica
NurOwn
Peripheral blood-derived hematopoietic stem cells for treatment of multiple sclerosis
Placental-derived mesenchymal stem cells for treatment of multiple sclerosis
Stem cell-derived oligodendrocyte precursor cells for multiple sclerosis
Tcelna
Umbilical cord tissue-derived mesenchymal stem cells for teatment of multiple sclerosis
Embryonic/Adult Cultured Cells Related to Multiple Sclerosis, Disease Progression, Modifier of:
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 19378207
Bone marrow-derived mesenchymal stem cells PMIDs: 22277374
Bone marrow-derived mesenchymal stem cells PMIDs: 21366911 22236384 22277374
Bone marrow-derived mesenchymal stem cells (family)
Oligodendrocyte progenitor cells PMIDs: 21946668
Facilitating cells PMIDs: 17150368
Bone marrow-derived adherent progenitor cells (MultiStem) PMIDs: 23205020 20637752 23020860 21175285 21248119
Umbilical cord-derived mesenchymal stem cells PMIDs: 20682053
Astrocyte-like cells PMIDs: 19127447 19603590
Peripheral blood-derived hematopoietic stem cells (family)
Placenta-derived mesenchymal stem cells PMIDs: 22638856
Oligodendrocyte precursor cells PMIDs: 19363151
Myelin-reactive T-cells PMIDs: 18465664 21563876 19230777
Umbilical cord-derived mesenchymal stem cells (family)

Cochrane evidence based reviews: multiple sclerosis

Genetic Tests for Multiple Sclerosis, Disease Progression, Modifier of

Genetic tests related to Multiple Sclerosis, Disease Progression, Modifier of:

id Genetic test Affiliating Genes
1 Multiple Sclerosis Modifier of Disease Progression 29
2 Multiple Sclerosis 24

Anatomical Context for Multiple Sclerosis, Disease Progression, Modifier of

MalaCards organs/tissues related to Multiple Sclerosis, Disease Progression, Modifier of:

39
Spinal Cord, Brain, Bone, Testes, Monocytes, Eye, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Multiple Sclerosis, Disease Progression, Modifier of:
id Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Cortical Sub Ventricular Zone Adult Oligodendrocyte Precursor Cells Potential therapeutic candidate
2 Limb Pelvic Girdle Bone Marrow Stromal Cells Potential therapeutic candidate
3 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate
4 Placenta Chorionic Villus Chorionic Mesenchymal Stromal Cells Potential therapeutic candidate
5 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
6 Spinal Cord Spinal Cord White Matter Myelinating Oligodendrocyte Cells Affected by disease
7 Brain Forebrain White Matter Myelinating Oligodendrocyte Cells Affected by disease
8 Brain Forebrain White Matter Oligodendrocyte Precursor Cells Potential therapeutic candidate
9 Neural Tube Caudal Ganglionic Eminence Oligodendrocyte Precursor Cells Potential therapeutic candidate
10 Neural Tube dP5 Neural Domain Oligodendrocyte Precursor Cells Potential therapeutic candidate
11 Neural Tube Lateral Ganglionic Eminence Oligodendrocyte Precursor Cells Potential therapeutic candidate
12 Neural Tube dP3 Neural Domain Oligodendrocyte Precursor Cells Potential therapeutic candidate
13 Neural Tube Motor Neural Progenitor Domain Oligodendrocyte Precursor Cells Potential therapeutic candidate
14 Neural Tube Anterior Entopeduncular Area Oligodendrocyte Precursor Cells Potential therapeutic candidate
15 Neural Tube Medial Ganglionic Eminence Oligodendrocyte Precursor Cells Potential therapeutic candidate
16 Neural Tube dP4 Neural Domain Oligodendrocyte Precursor Cells Potential therapeutic candidate
17 Spinal Cord Spinal Cord White Matter Oligodendrocyte Precursor Cells Potential therapeutic candidate

Publications for Multiple Sclerosis, Disease Progression, Modifier of

Variations for Multiple Sclerosis, Disease Progression, Modifier of

ClinVar genetic disease variations for Multiple Sclerosis, Disease Progression, Modifier of:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NR1H3 NM_005693.3(NR1H3): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic rs61731956 GRCh38 Chromosome 11, 47268596: 47268596

Copy number variations for Multiple Sclerosis, Disease Progression, Modifier of from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 19629 1 150852910 150853198 Copy number LCE3B Multiple sclerosis
2 82393 14 105506863 105509403 Copy number ADAM6 Multiple sclerosis
3 150742 20 13924145 15981841 Copy number MACROD2 Multiple sclerosis
4 224845 7 38265768 38282444 Copy number TARP Multiple sclerosis

Expression for Multiple Sclerosis, Disease Progression, Modifier of

LifeMap Discovery
Genes differentially expressed in tissues of Multiple Sclerosis, Disease Progression, Modifier of patients vs. healthy controls: 35 (show all 20)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 HBD hemoglobin, delta Blood + 4.09 0.000
2 LTF lactotransferrin Blood + 3.94 0.000
3 ALAS2 5'-aminolevulinate synthase 2 Blood + 3.75 0.000
4 BOD1L1 biorientation of chromosomes in cell division 1-like 1 Blood + 3.72 0.000
5 FBXO11 F-box protein 11 Spinal Cord + 3.70 0.005
6 MALAT1 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) Blood + 3.69 0.000
7 CPT1A carnitine palmitoyltransferase 1A (liver) Spinal Cord + 3.62 0.004
8 ZNF695 zinc finger protein 695 Spinal Cord - 3.58 0.001
9 WBP2NL WBP2 N-terminal like Spinal Cord - 3.43 0.015
10 CLEC4A C-type lectin domain family 4, member A Spinal Cord + 3.41 0.016
11 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 Blood + 3.39 0.000
12 PUS7 pseudouridylate synthase 7 (putative) Spinal Cord + 3.34 0.038
13 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 Spinal Cord + 3.33 0.006
14 EIF5A eukaryotic translation initiation factor 5A Blood - 3.30 0.000
15 CLC Charcot-Leyden crystal galectin Blood + 3.20 0.000
16 FAM118A family with sequence similarity 118, member A Spinal Cord - 3.20 0.007
17 HBM hemoglobin, mu Blood + 3.15 0.000
18 HINT3 histidine triad nucleotide binding protein 3 Blood - 3.10 0.000
19 CAB39L calcium binding protein 39-like Spinal Cord + 3.07 0.000
20 IGHD immunoglobulin heavy constant delta Blood + 3.05 0.000
Search GEO for disease gene expression data for Multiple Sclerosis, Disease Progression, Modifier of.

Pathways for Multiple Sclerosis, Disease Progression, Modifier of

Pathways related to Multiple Sclerosis, Disease Progression, Modifier of according to GeneCards Suite gene sharing:

(show top 50) (show all 53)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 CD40 CD40LG CHIT1 HLA-DQB1 HLA-DRB1 IFNB1
2
Show member pathways
13.68 CD40 CD40LG CXCR3 IFNB1 IFNG IL10
3
Show member pathways
13.42 CD40 CD40LG CXCR3 IL10 IL17A IL4
4
Show member pathways
13.33 CD40 CD40LG HLA-DQB1 HLA-DRB1 IFNB1 IFNG
5
Show member pathways
13.31 CD40 CD40LG CXCR3 IL10 IL17A IL4
6
Show member pathways
12.88 CD40 IFNB1 IFNG IL10 TNF
7
Show member pathways
12.83 HLA-DQB1 HLA-DRB1 IFNB1 IFNG IL4 MX1
8
Show member pathways
12.76 CD40 CD40LG HLA-DQB1 HLA-DRB1 IFNG IL10
9
Show member pathways
12.62 HLA-DQB1 HLA-DRB1 IFNG IL10 IL17A IL4
10
Show member pathways
12.59 CD40 CD40LG HLA-DQB1 HLA-DRB1 IFNG IL10
11
Show member pathways
12.55 HLA-DQB1 HLA-DRB1 IFNB1 IFNG MX1
12 12.55 CD40LG IFNG IL10 IL17A IL4 PDCD1
13 12.42 CD40 HLA-DQB1 HLA-DRB1 TNF
14
Show member pathways
12.41 CD40LG IFNG IL10 IL17A IL4 PDCD1
15
Show member pathways
12.39 CD40 CD40LG HLA-DQB1 HLA-DRB1
16
Show member pathways
12.33 IFNG IL17A IL4 TNF
17 12.33 CD40 HLA-DQB1 HLA-DRB1 IFNG IL10
18 12.25 HLA-DQB1 HLA-DRB1 IFNB1 IFNG IL10 TNF
19
Show member pathways
12.22 IFNB1 IFNG IL10 IL4
20
Show member pathways
12.2 IFNB1 IFNG IL4 TNF
21 12.19 AQP4 IL10 PLP1 TNF
22 12.13 CD40 CD40LG HLA-DQB1 HLA-DRB1 ITGA4 PDCD1
23
Show member pathways
12.12 IFNB1 IFNG IL10 IL17A IL4 MX1
24 12.06 AQP4 IFNG IL4 MBP TNF
25 12.02 IFNG IL10 IL4 TNF
26 12 IL10 IL17A IL4 TNF
27
Show member pathways
11.97 IFNG IL10 IL17A TNF
28 11.95 HLA-DQB1 HLA-DRB1 IL4 ITGA4 TNF
29 11.9 HLA-DQB1 HLA-DRB1 IFNG IL17A TNF
30
Show member pathways
11.82 CD40 CD40LG TNF
31
Show member pathways
11.8 CD40LG IFNG IL4 TNF
32 11.8 IFNB1 IFNG IL10 TNF
33
Show member pathways
11.75 CD40 CD40LG TNF
34 11.7 CXCR3 IFNG IL10 IL17A IL4 ITGA4
35 11.67 CD40LG IL10 IL4
36
Show member pathways
11.67 CD40LG IFNG TNF
37 11.64 CD40 CD40LG PDCD1
38 11.62 CD40 CD40LG IL10 PDCD1
39 11.61 HLA-DQB1 HLA-DRB1 IL10
40
Show member pathways
11.55 CD40 CD40LG HLA-DQB1 HLA-DRB1 IFNG IL10
41 11.54 IL10 IL4 TNF
42 11.51 IFNG IL10 IL4
43 11.49 CD40 CD40LG IFNG IL10 TNF
44
Show member pathways
11.44 IFNG IL10 TNF
45 11.4 CD40 CD40LG IFNG IL4
46 11.37 IFNG IL10 TNF
47 11.36 IFNG IL17A IL4 TNF
48 11.34 CD40 CD40LG IL10 IL4 ITGA4 PDCD1
49 11.3 CD40 CD40LG IL4
50 11.24 CD40LG IL10 IL17A IL4 TNF

GO Terms for Multiple Sclerosis, Disease Progression, Modifier of

Cellular components related to Multiple Sclerosis, Disease Progression, Modifier of according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.63 CD40 CD40LG CXCR3 HLA-DRB1 ITGA4 TNF
2 extracellular space GO:0005615 9.61 CD40 CD40LG CHIT1 IFNB1 IFNG IL10
3 external side of plasma membrane GO:0009897 9.32 AQP4 CD40 CD40LG CXCR3 HLA-DRB1 IFNG

Biological processes related to Multiple Sclerosis, Disease Progression, Modifier of according to GeneCards Suite gene sharing:

(show all 41)
id Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 9.98 IFNB1 IFNG IL10 TNF
2 defense response to virus GO:0051607 9.96 CD40 IFNB1 IFNG MX1
3 positive regulation of protein phosphorylation GO:0001934 9.94 CD40 IFNG IL4 TNF
4 regulation of immune response GO:0050776 9.93 CD40 CD40LG IFNG IL4 ITGA4
5 inflammatory response GO:0006954 9.91 CD40 CD40LG CXCR3 IL10 IL17A PLP1
6 response to virus GO:0009615 9.88 IFNB1 IFNG MX1 TNF
7 interferon-gamma-mediated signaling pathway GO:0060333 9.85 HLA-DQB1 HLA-DRB1 IFNG
8 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.85 CD40 IFNG IL4
9 positive regulation of T cell proliferation GO:0042102 9.85 CD40LG IFNG IL4
10 T cell costimulation GO:0031295 9.83 CD40LG HLA-DQB1 HLA-DRB1 PDCD1
11 cellular response to lipopolysaccharide GO:0071222 9.83 CD40 IFNG IL10 NR1H3 TNF
12 antigen processing and presentation GO:0019882 9.8 HLA-DQB1 HLA-DRB1 IFNG
13 negative regulation of viral genome replication GO:0045071 9.8 IFNB1 MX1 TNF
14 humoral immune response GO:0006959 9.8 IFNB1 IFNG PDCD1 TNF
15 positive regulation of interleukin-12 production GO:0032735 9.73 CD40 CD40LG IFNG
16 positive regulation of osteoclast differentiation GO:0045672 9.72 IFNG IL17A TNF
17 negative regulation of growth of symbiont in host GO:0044130 9.69 IFNG IL10 TNF
18 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.68 IL10 TNF
19 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.68 IL10 MBP
20 negative regulation of macrophage activation GO:0043031 9.67 IL4 NR1H3
21 axon ensheathment GO:0008366 9.66 MBP PLP1
22 endothelial cell apoptotic process GO:0072577 9.66 IL10 TNF
23 negative regulation of cytokine secretion involved in immune response GO:0002740 9.65 IL10 TNF
24 type 2 immune response GO:0042092 9.65 IL10 IL4
25 positive regulation of isotype switching to IgG isotypes GO:0048304 9.65 CD40 IFNG IL4
26 positive regulation of interleukin-23 production GO:0032747 9.64 IFNG IL17A
27 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.63 HLA-DQB1 HLA-DRB1
28 positive regulation of chemokine biosynthetic process GO:0045080 9.63 IFNG IL4 TNF
29 regulation of isotype switching GO:0045191 9.62 IL10 IL4
30 B cell proliferation GO:0042100 9.62 CD40 CD40LG IFNB1 IL10
31 positive regulation of mononuclear cell migration GO:0071677 9.61 IL4 TNF
32 receptor biosynthetic process GO:0032800 9.61 IL10 TNF
33 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.6 HLA-DQB1 HLA-DRB1
34 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.59 IFNG TNF
35 positive regulation of MHC class II biosynthetic process GO:0045348 9.58 IFNG IL10 IL4
36 positive regulation of vitamin D biosynthetic process GO:0060557 9.57 IFNG TNF
37 defense response to protozoan GO:0042832 9.46 CD40 IFNG IL10 IL4
38 regulation of immunoglobulin secretion GO:0051023 9.43 CD40 CD40LG TNF
39 immune response GO:0006955 9.36 CD40 CD40LG CHIT1 HLA-DQB1 HLA-DRB1 IFNG
40 B cell differentiation GO:0030183 9.35 CD40LG IFNB1 IL10 IL4 ITGA4
41 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.18 CD40 IFNB1 IFNG IL10 IL17A IL4

Molecular functions related to Multiple Sclerosis, Disease Progression, Modifier of according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.17 CD40LG IFNB1 IFNG IL10 IL17A IL4
2 MHC class II receptor activity GO:0032395 9.16 HLA-DQB1 HLA-DRB1
3 structural constituent of myelin sheath GO:0019911 8.96 MBP PLP1

Sources for Multiple Sclerosis, Disease Progression, Modifier of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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