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Pediatric systemic lupus erythematosus
4 associated genes
121 connected diseases
No signs/symptoms info
Disease Type of connection
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Behçet disease
Giant cell arteritis
Granulomatosis with polyangiitis
Amyotrophic lateral sclerosis
Common variable immunodeficiency
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Papillary or follicular thyroid carcinoma
Blackfan-Diamond anemia
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Severe combined immunodeficiency due to LCK deficiency
Combined immunodeficiency due to ZAP70 deficiency
Cowden syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Proteus syndrome
Burkitt lymphoma
CLN3 disease
Precursor T-cell acute lymphoblastic leukemia
Adult-onset distal myopathy due to VCP mutation
Autosomal recessive limb-girdle muscular dystrophy type 2H
Bardet-Biedl syndrome
Behavioral variant of frontotemporal dementia
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Familial medullary thyroid carcinoma
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Herpetic encephalitis
Idiopathic hypereosinophilic syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile myofibromatosis
Laron syndrome
Myeloid neoplasm associated with PDGFRB rearrangement
Progressive non-fluent aphasia
Semantic dementia
Short stature due to partial GHR deficiency
Spastic paraplegia - Paget disease of bone
Unclassified chronic myeloproliferative disease
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
NLRP12-associated hereditary periodic fever syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Acrokeratosis verruciformis of Hopf
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Apolipoprotein A-I deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant methemoglobinemia
Autosomal dominant secondary polycythemia
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Berardinelli-Seip congenital lipodystrophy
Catecholaminergic polymorphic ventricular tachycardia
Childhood-onset nemaline myopathy
Chronic mucocutaneous candidiasis
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Darier disease
Diffuse cutaneous systemic sclerosis
FTH1-related iron overload
Familial isolated dilated cardiomyopathy
Familial renal amyloidosis due to Apolipoprotein AI variant
Frontotemporal dementia with motor neuron disease
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary spherocytosis
Heritable pulmonary arterial hypertension
Intermediate nemaline myopathy
Limited cutaneous systemic sclerosis
Lissencephaly type 1 due to doublecortin gene mutation
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Multiple paragangliomas associated with polycythemia
Muscular dystrophy, Selcen type
Primary systemic amyloidosis
Prolidase deficiency
Pseudohypoaldosteronism type 2E
Recessive hereditary methemoglobinemia type 1
Recessive hereditary methemoglobinemia type 2
Reducing body myopathy
Retinitis pigmentosa
Severe congenital nemaline myopathy
Split hand-split foot malformation
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Subcortical band heterotopia
Susceptibility to viral and mycobacterial infections
Typical nemaline myopathy
Wolfram syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Young adult-onset Parkinsonism
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Primary biliary cirrhosis
Congenital muscular dystrophy with hyperlaxity
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Congenital mesoblastic nephroma
Costello syndrome
FADD-related immunodeficiency
Linear nevus sebaceus syndrome
Oculootodental syndrome
Phakomatosis pigmentokeratotica
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
- SLE, pediatric onset

Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
IRAK1 P51617300283
PTPN22 Q9Y2R2600716
SPP1 P10451166490
STAT4 Q14765600558
No signs/symptoms info available.