Hereditary diseases
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Disposition to infections
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Genetic alterations of drug tolerance
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Hereditary broncho-pulmonary disease
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Hereditary cardiac disease
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Hereditary dermatological disorders
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Hereditary diseases of the hematopoetic system and coagulopathies
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Hereditary endocrinological diseases
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Hereditary immunological disorders
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Atopy
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MS4A2
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Autoimmune disease
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Autoimmune polyendokrinopathy
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Autoimmune polyendocrinopathy syndrome 1
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AIRE
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Autoimmune polyendocrinopathy syndrome 2
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Autoimmune polyendocrinopathy syndrome 3
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Autoimmune polyendocrinopathy syndrome 4
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X-linked immunodysregulation, polyendocrinopathy, and enteropathy
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FOXP3
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Membranous nephropathy
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HLA-DQA1
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PLA2R1
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Susceptibility to autoimmune thyroid disease
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Graves disease
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GC
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Susceptibility to autoimmune thyroid disease 1
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Susceptibility to autoimmune thyroid disease 2
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Susceptibility to autoimmune thyroid disease 3
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TG
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ZFAT
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Susceptibility to autoimmune thyroid disease 4
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Susceptibility to autoimmune thyroid disease 5
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Susceptibility to celiac disease
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CTLA4
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Susceptibility to celiac disease 03
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CTLA4
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Susceptibility to systemic lupus erythematosus
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CTLA4
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DNASE1
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FCGR2A
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FCGR2B
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PTPN22
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Susceptibility to lupus nephritis
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FCGR2A
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Susceptibility to systemic lupus erythematosus 03
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Susceptibility to systemic lupus erythematosus 04
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Susceptibility to systemic lupus erythematosus 05
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Susceptibility to systemic lupus erythematosus 06
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Susceptibility to systemic lupus erythematosus 07
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Susceptibility to systemic lupus erythematosus 08
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Susceptibility to systemic lupus erythematosus 09
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CR2
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Susceptibility to systemic lupus erythematosus 10
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IRF5
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Susceptibility to systemic lupus erythematosus 11
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STAT4
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Susceptibility to systemic lupus erythematosus 12
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Susceptibility to systemic lupus erythematosus 13
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Susceptibility to systemic lupus erythematosus 14
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Susceptibility to systemic lupus erythematosus 15
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IRAK1
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Susceptibility to systemic lupus erythematosus 16
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DNASE1L3
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TREX1
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systemic_lupus_erythematosus_susceptibility_to_1
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TLR5
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systemic_lupus_erythematosus_susceptibility_to_2
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PDCD1
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Susceptibility to systemic lupus erythematosus 09
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CR2
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Susceptibility to type 1 diabetes 01
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PTPN22
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Susceptibility to vitiligo-associated multiple autoimmune disease 1
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NLRP1
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Autoinflammatory disease
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Autoinflammation with arthritis and dyskeratosis
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NLRP1
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Autoinflammation, antibody deficiency, and immune dysregulation syndrome
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PLCG2
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Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
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WDR1
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CARD14 associated psoriasis
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Pityriasis rubra pilaris
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CARD14
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Psoriasis 02
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CARD14
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Chronic recurrent multifocal osteomyelitis
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Congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis
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Majeed syndrome
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LPIN2
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Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
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TRNT1
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F12
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Familial cold autoinflammatory syndromes
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Familial cold autoinflammatory syndrome 1
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NLRP3
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Familial cold autoinflammatory syndrome 2
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NLRP12
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Familial cold autoinflammatory syndrome 3
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PLCG2
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Familial cold autoinflammatory syndrome 4
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NLRC4
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Hereditary pediatric Behçet-like disease
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TNFAIP3
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Infantile-onset periodic fever-panniculitis-dermatosis syndrome
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OTULIN
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Inflammatory bowel disease
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Crohn disease-associated growth failure
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IL6
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Inflammatory bowel disease 13
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ABCB1
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Inflammatory bowel disease 25
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IL10RB
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Inflammatory bowel disease 28
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IL10RA
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SEL1L
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Interleukin 10 deficiency
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Graft-versus-host disease protection
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IL10
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HIV1 susceptibility
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IL10
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IL10
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Susceptibility to rheumatoid arthritis
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IL10
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PTPN22
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Interleukin 10 receptor deficiency
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IL10RA
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IL10RB
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Inflammatory bowel disease 25
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IL10RB
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Inflammatory bowel disease 28
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IL10RA
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Interleukin-1 receptor antagonist deficiency
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IL1RN
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Periodic fever-infantile enterocolitis-autoinflammatory syndrome
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NLRC4
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Proteasome-associated autoinflammatory syndrome
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PSMA3
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Proteasome-associated autoinflammatory syndrome 1
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PSMB8
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Proteasome-associated autoinflammatory syndrome 2
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POMP
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Proteasome-associated autoinflammatory syndrome 3
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PSMB4
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PSMB9
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Proteasome-associated autoinflammatory syndrome 4
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PSMG2
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Pseudo-TORCH-Syndrom
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Pseudo-TORCH syndrome 1
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OCLN
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Pseudo-TORCH syndrome 2
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USP18
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Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
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PSTPIP1
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SH3BP2 deficienc with multilocular cysticy disease of the mandibles
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Central giant cell lesion
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SH3BP2
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Cherubism
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SH3BP2
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Familial multilocular cystic disease of the jaws
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SH3BP2
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STING-associated vasculopathy with onset in infancy
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TMEM173
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Singleton-Merten syndrome
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Singleton-Merten syndrome 1
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IFIH1
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Singleton-Merten syndrome 2
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DDX58
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Susceptibility to malignant hyperthermia 5
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CACNA1S
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Susceptibility to rheumatoid arthritis
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IL10
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PTPN22
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Systemic autoinflammatory disease
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ADA2 deficiency
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Sneddon syndrome
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ADA2
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Vasculitis due to ADA2 deficiency
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ADA2
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Cryopyrin-associated periodic syndrome
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CINCA syndrome
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NLRP3
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Familial cold autoinflammatory syndrome 1
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NLRP3
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Muckle-Wells syndrome
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NLRP3
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Mevalonate kinase-associated inflammatory diseases
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Hyper-IgD syndrome
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MVK
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Mevalonic aciduria
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MVK
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Porokeratosis 3
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MVK
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NOD2-associated disease
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Blau syndrome
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NOD2
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inflammatory_bowel_disease_1_crohn_disease
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NOD2
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yao_syndrome
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NOD2
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Pyrin-associated autoinflammatory disease
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Acute febrile neutrophilic dermatosis
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MEFV
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Familial Mediterranean fever
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MEFV
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SAA1
|
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TNFRSF1A
|
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Systemic-onset juvenile idiopathic arthritis
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IL6
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LACC1
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MIF
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TNF receptor-associated periodic syndrome
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TNFRSF1A
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Chediak-Higashi syndrome
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LYST
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Graft-versus-host disease protection
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IL10
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Griscelli syndrome type 2
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RAB27A
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Hereditary complement disorders
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CR1 deficiency
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CR1
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Complement C2 deficiency
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C2
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Complement C3 deficiency
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C3
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Complement C5 deficiency
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C5
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Complement C6 deficiency
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C6
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Complement C7 deficiency
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C7
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Complement C8 deficiency
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C8G
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Complement C8 deficiency type 1
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C8A
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Complement C8 deficiency type 2
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C8B
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Complement C9 deficiency
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C9
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Complement component C4 deficiency
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Complement component C4A deficiency
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C4A
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Complement component C4B deficiency
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C4B
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Partial complement component C4 deficiency
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SERPING1
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Complement factor D deficiency
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CFD
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Complement factor I deficiency
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CFI
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Early pathway complement deficiencies
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Complement component C1q deficiency
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C1QA
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C1QB
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C1QC
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Complement component C1r/C1s deficiency
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C1R
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Complement component C1s deficiency
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C1S
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Hereditary Angioedema
|
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Hereditary Angioedema 1
|
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SERPING1
|
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Hereditary Angioedema 2
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SERPING1
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Hereditary Angioedema 3
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F12
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Properdin deficiency, X-linked
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CFP
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Terminal pathway complement deficiencies
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Thrombotic microangiopathies
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Hemolytic-Uremic Syndrome
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ADAMTS13
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C3
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C4BPA
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C4BPB
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CD46
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CFB
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CFH
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CFHR1
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CFHR2
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CFHR3
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CFHR4
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CFHR5
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CFI
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CLU
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DGKE
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Methylmalonic aciduria
|
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Methylmalonic aciduria and homocystinuria cblC
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MMACHC
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Methylmalonic aciduria and homocystinuria cblD
|
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MMADHC
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Methylmalonic aciduria type mut
|
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MUT
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PIGA
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PLG
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THBD
|
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Poor response to Eculizumab
|
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C5
|
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|
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Thrombotic Thrombocytopenic Purpura
|
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ADAMTS13
|
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Immunoglobulin disorders
|
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|
|
Agammaglobulinemia, X-linked
|
|
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|
|
BTK
|
|
|
|
Hyper-IgM syndrome
|
|
|
|
|
Hyper-IgM syndrome 1
|
|
|
|
|
|
CD40LG
|
|
|
|
|
Hyper-IgM syndrome 2
|
|
|
|
|
|
AICDA
|
|
|
|
|
Hyper-IgM syndrome 3
|
|
|
|
|
|
CD40
|
|
|
|
|
Hyper-IgM syndrome 4
|
|
|
|
|
Hyper-IgM syndrome 5
|
|
|
|
|
|
UNG
|
|
|
Interferonopathy
|
|
|
|
Aicardi-Goutieres syndrome
|
|
|
|
|
Aicardi-Goutieres syndrome 1
|
|
|
|
|
|
TREX1
|
|
|
|
|
Aicardi-Goutieres syndrome 2
|
|
|
|
|
|
RNASEH2B
|
|
|
|
|
Aicardi-Goutieres syndrome 3
|
|
|
|
|
|
RNASEH2C
|
|
|
|
|
Aicardi-Goutieres syndrome 4
|
|
|
|
|
|
RNASEH2A
|
|
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|
|
Aicardi-Goutieres syndrome 5
|
|
|
|
|
|
SAMHD1
|
|
|
|
|
Aicardi-Goutieres syndrome 6
|
|
|
|
|
|
ADAR
|
|
|
|
|
Aicardi-Goutieres syndrome 7
|
|
|
|
|
|
IFIH1
|
|
|
|
Familial Chilblain lupus
|
|
|
|
|
Familial Chilblain lupus 2
|
|
|
|
|
|
SAMHD1
|
|
|
|
|
Familial chilblain lupus 1
|
|
|
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|
|
TREX1
|
|
|
|
Immunodeficiency 38
|
|
|
|
|
ISG15
|
|
|
|
Pseudo-TORCH syndrome 2
|
|
|
|
|
USP18
|
|
|
|
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
|
|
|
|
|
TREX1
|
|
|
|
Singleton-Merten syndrome
|
|
|
|
|
Singleton-Merten syndrome 1
|
|
|
|
|
|
IFIH1
|
|
|
|
|
Singleton-Merten syndrome 2
|
|
|
|
|
|
DDX58
|
|
|
|
Spondyloenchondrodysplasia with immune dysregulation
|
|
|
|
|
ACP5
|
|
|
|
Trichohepatoenteric syndrome 2
|
|
|
|
|
SKIV2L
|
|
|
Primary immunodeficiency
|
|
|
|
Achondroplasia-SCID syndrome
|
|
|
|
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
|
|
|
|
|
PLCG2
|
|
|
|
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
|
|
|
|
|
TRNT1
|
|
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Disposition to infections
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Disorders of mRNA editing
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APOBEC1
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APOBEC2
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APOBEC3A
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APOBEC3B
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APOBEC3C
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APOBEC3D
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APOBEC3F
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APOBEC3G
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APOBEC3H
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APOBEC4
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Familial candidiasis
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CLEC6A
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Familial candidiasis 2
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CARD9
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Familial candidiasis 3
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Familial candidiasis 4
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CLEC7A
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Familial candidiasis 5
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IL17RA
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Familial candidiasis 6
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IL17F
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Familial candidiasis 8
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TRAF3IP2
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Familial candidiasis 9
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IL17RC
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Genetic susceptibility to aspergillosis
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CLEC1A
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CLEC7A
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HIV resistance
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AIDS progression
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IFNG
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CCR5
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CXCR1
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HIV-1 viremia susceptibility
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HLA-C
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HIV1 susceptibility
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IL10
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IRAK4 deficiency
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IRAK4
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Invasive pneumococcal disease
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Invasive pneumococcal disease 1
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IRAK4
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Invasive pneumococcal disease 2
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IKBKG
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Invasive pneumococcal disease 3
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TIRAP
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Measles infection susceptibility
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CD46
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Meningococcal infection susceptibility
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C3
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C5
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C7
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C8A
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C8B
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C8G
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C9
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CD46
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CFB
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CFD
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CFH
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CFP
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Resistance to trypanosoma brucei
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APOL1
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Septic shock
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TNF
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Susceptibility to bacteremia 1
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TIRAP
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Susceptibility to malaria
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FCGR2A
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FCGR2B
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TNF
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Susceptibility to mycobacterial diseases
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TIRAP
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X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
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IKBKG
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Susceptibility to pseudomonas infection
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FCGR2A
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X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
|
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IKBKG
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IRAK4 deficiency
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IRAK4
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Immunodeficiency 20
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FCGR3A
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Immunodeficiency 21
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GATA2
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Immunodeficiency 31A
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STAT1
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Immunodeficiency 31B
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STAT1
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Immunodeficiency 31C
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STAT1
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Immunodeficiency 33
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IKBKG
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Immunodeficiency 38
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ISG15
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Immunodeficiency 41
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IL2RA
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Immunodeficiency 51
|
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IL17RA
|
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Immunodeficiency 68
|
|
|
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MYD88
|
|
|
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Immunodeficiency 69
|
|
|
|
|
IFNG
|
|
|
|
Immunodeficiency 74, COVID19-related
|
|
|
|
|
TLR7
|
|
|
|
|
TLR8
|
|
|
|
Immunodeficiency-centromeric instability-facial anomalies syndrome
|
|
|
|
|
DNMT3B
|
|
|
|
Variable immunodeficiency type 7
|
|
|
|
|
CR2
|
|
|
|
Vasculitis due to ADA2 deficiency
|
|
|
|
|
ADA2
|
|
|
|
Wiskott–Aldrich syndrome
|
|
|
|
|
WAS
|
|
|
Susceptibility to allergic rhinitis
|
|
|
|
IL13
|
|
|
Susceptibility to asthma
|
|
|
|
IL13
|
|
Hereditary kidney diseases
|
|
Hereditary liver disease
|
|
Hereditary malformations
|
|
Hereditary metabolic diseases
|
|
Hereditary musculoskeletal diseases
|
|
Hereditary neurological disorders
|
|
Hereditary ocular disease and visual impairment
|
|
Hereditary otorhinolaryngological disorders
|
|
Hereditary pancreatic disease
|
|
Hereditary tumors
|
|
Hereditary vascular disease
|
|
Hypertension
|
|
|
|
|
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