Gene Dossiers

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Gene dossier Disorders Genes
Athabaskan Brainstem Dysgenesis Syndrome

Exeter RGC - 2008

  • Athabaskan Brainstem Dysgenesis Syndrome
    • Bosley-Salih-Alorainy Syndrome
    • Navajo Brainstem Syndrome
  • homeobox A1
Atypical Mycobacteriosis, Familial

Cambridge RGC - 2010

  • Immunodeficiency 27a
    • Atypical Mycobacterial Infection, Disseminated
    • Atypical Mycobacterial Infection, Familial Disseminated
    • Atypical Mycobacteriosis, Familial
    • Mycobacterial Disease, Mendelian Susceptibility To
  • inhibitor of nuclear factor kappa B kinase subunit gamma
    • IKK-gamma
    • incontinentia pigmenti
    • inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma
    • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
    • NF-KAPPA-B Essential Modulator
  • interferon gamma receptor 1
  • interferon gamma receptor 2 (interferon gamma transducer 1)
  • interleukin 12 receptor subunit beta 1
    • interleukin 12 receptor, beta 1
  • interleukin 12B
    • cytotoxic lymphocyte maturation factor 2, p40
    • IL12, subunit p40
    • interleukin 12, p40
    • interleukin 12b (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
    • interleukin-12 beta chain
    • natural killer cell stimulatory factor, 40 kd subunit
    • natural killer cell stimulatory factor-2
  • signal transducer and activator of transcription 1
    • signal transducer and activator of transcription 1, 91kDa
    • transcription factor isgf-3 components p91/p84
  • tyrosine kinase 2
Autoinflammatory Diseases 20 Gene Panel

Leeds RGC - 2016

  • Autoinflammation, Antibody Deficiency, And Immune Dysregulation, PLCG2-Associated
  • Autoinflammation, Lipodystrophy, And Dermatosis Syndrome
    • Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature Syndrome
    • Joint Contractures, Muscular Atrophy, Microcytic Anemia, And Panniculitis-Induced Lipodystrophy
    • Nakajo-Nishimura Syndrome
  • Autoinflammatory Syndrome, Familial, Behcet-Like
    • 0
  • Blau Syndrome
    • Granulomatosis, Familial Juvenile Systemic|Arthrocutaneouveal Granulomatosis|Jabs Syndrome|Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial|Granulomatosis, Familial, Blau Type
  • CINCA Syndrome
  • Familial Cold Autoinflammatory Syndrome 1
  • Familial Cold Autoinflammatory Syndrome 2
    • 0
  • Familial Cold Autoinflammatory Syndrome 3
    • Antibody Deficiency And Immune Dysregulation, Plcg2-Associated|Familial Atypical Cold Urticaria
  • Familial Mediterranean Fever
    • Polyserositis, Familial Paroxysmal
    • Polyserositis, Recurrent
  • Familial Mediterranean Fever, Autosomal Dominant
    • Fmf, Autosomal Dominant
  • Histiocytosis-Lymphadenopathy Plus Syndrome
    • Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness|Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without H
  • Hyper-IgD Syndrome
    • Hyperimmunoglobulinemia D And Periodic Fever Syndrome
    • Periodic Fever, Dutch Type
  • Inflammatory Bowel Disease 25, Autosomal Recessive
    • Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
  • Inflammatory Bowel Disease 28, Autosomal Recessive
    • Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
  • Mevalonic Aciduria
  • Muckle-Wells Syndrome
    • Urticaria-Deafness-Amyloidosis Syndrome
  • Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
  • Osteopetrosis, Autosomal Recessive 7
    • Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia
  • Periodic Fever, Familial, Autosomal Dominant
    • Familial Hibernian Fever
    • FPF
    • Hibernian Fever, Familial
    • Tnf Receptor-Associated Periodic Syndrome
    • Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
  • Pityriasis Rubra Pilaris
  • Polyarteritis Nodosa, Childhood-Onset
    • ADA2 Deficiency
  • Psoriasis 14, Pustular
    • Interleukin 36 Receptor Antagonist Deficiency|Generalized Pustular Psoriasis|Psorp|Acrodermatitis Continua Of Hallopeau|Palmoplantar Pustulosis
  • Psoriasis 2
    • 0
  • Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
    • Papa Syndrome|Familial Recurrent Arthritis
  • Sarcoidosis, Early-Onset
    • Eos
  • STING-Associated Vasculopathy, Infantile-Onset
    • 0
  • adenosine deaminase 2
    • cat eye syndrome chromosome region, candidate 1
  • caspase recruitment domain family member 14
    • BIMP2
    • CARMA2
  • interleukin 1 receptor antagonist
  • interleukin 10
    • cytokine synthesis inhibitory factor
  • interleukin 10 receptor subunit alpha
    • interleukin 10 receptor
    • interleukin 10 receptor, alpha
  • interleukin 10 receptor subunit beta
    • cytokine receptor family II, member 4
    • interleukin 10 receptor, beta
  • interleukin 36 receptor antagonist
    • FIL1
    • FIL1(DELTA)
    • FIL1D
    • IL-1F5
    • IL1HY1
    • IL1L1
    • IL1RP3
    • IL36RA
    • MGC29840
  • MEFV, pyrin innate immunity regulator
    • familial mediterranean fever gene
    • marenostrin
    • Mediterranean fever
    • pyrin
  • mevalonate kinase
    • lh receptor mrna-binding protein
    • mevalonate kinase
    • mevalonate kinase (mevalonic aciduria)
    • mevalonate kinase deficiency, included
    • mevalonicaciduria, included
  • NLR family, pyrin domain containing 12
    • leucine rich repeat and PYD containing 12
    • Monarch1
    • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
  • NLR family, pyrin domain containing 3
  • nucleotide binding oligomerization domain containing 2
    • BLAU
    • CD
    • CLR16.3
    • NLRC2
    • PSORAS1
  • phospholipase C, gamma 2
    • phospholipase C, gamma 2 (phosphatidylinositol-specific)
    • phospholipase C, phosphatidylinositol-specific
  • proline-serine-threonine phosphatase interacting protein 1
    • CD2BP1
    • CD2BP1L
    • CD2BP1S
    • H-PIP
    • PAPAS
    • PSTPIP
  • proteasome subunit beta 4
    • proteasome (prosome, macropain) subunit, beta type, 4
  • solute carrier family 29 member 3
    • ENT3
    • FLJ11160
  • TNF alpha induced protein 3
    • tumor necrosis factor, alpha-induced protein 3
  • TNF receptor superfamily member 11A
    • loss of heterozygosity, chromosome 18, region 1
    • osteoclast differentiation factor receptor
    • osteosarcoma tumor suppressor
    • PDB2 gene
    • receptor activator of NF-KAPPA-B
    • tumor necrosis factor receptor superfamily, member 11a
    • tumor necrosis factor receptor superfamily, member 11a, NFKB activator
  • TNF receptor superfamily member 1A
    • TNFR, 55-kd
    • TNFR, 60-kd
    • tumor necrosis factor receptor 1
    • tumor necrosis factor receptor superfamily, member 1A
    • tumor necrosis factor-alpha receptor
  • transmembrane protein 173
    • stimulator of interferon genes
    • STING
Autosomal Alport Syndrome

London South East RGC GSTT - 2010

Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia

Cardiff RGC - 2008

Autosomal Recessive Congenital Ichthyosis

Dundee RGC - 2012

  • Ichthyosis, Congenital, Autosomal Recessive 1
    • Collodion Baby, Self-Healing
    • Collodion Fetus
    • Desquamation Of Newborn
    • Ichthyosis Congenita
    • Ichthyosis Congenita II
    • Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution
    • Ichthyosis, Lamellar, 1
    • Lamellar Exfoliation Of Newborn
  • Ichthyosis, Congenital, Autosomal Recessive 2
    • Collodion Baby, Self-Healing
    • Ichthyosiform Erythroderma, BROCQ Congenital, Nonbullous Form
    • Ichthyosiform Erythroderma, Nonbullous Congenital, 1
  • Ichthyosis, Congenital, Autosomal Recessive 3
    • Collodion Baby, Self-Healing
    • Ichthyosis, Lamellar, 5, Formerly; LI5, Formerly
  • Ichthyosis, Congenital, Autosomal Recessive 5
    • Ichthyosis Congenita III
    • Ichthyosis, Lamellar, 3, Formerly; LI3, Formerly
    • Ichthyosis, Nonlamellar And Nonerythrodermic, Congenital, Autosomal Recessive
  • Ichthyosis, Congenital, Autosomal Recessive 6
    • Ichthyosis, Congenital, Autosomal Recessive, NIPAL4-Related
  • arachidonate 12-lipoxygenase, 12R type
  • arachidonate lipoxygenase 3
  • cytochrome P450, family 4, subfamily F, member 22
    • cytochrome P450, family 4, subfamily F, polypeptide 22
    • cytochrome P450, subfamily IVF, polypeptide 22
  • NIPA-like domain containing 4
    • NIPA-like 4
  • transglutaminase 1
    • transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
Autosomal Recessive Distal Renal Tubular Acidosis

Cambridge RGC - 2010

Axenfeld-Rieger Syndrome

Bristol RGC - 2008

Axenfeld-Rieger Syndrome, Type 1

Bristol RGC - 2008

  • Axenfeld-Rieger Syndrome, Type 1
    • Rieger Syndrome, Type 1
  • paired-like homeodomain 2
    • all1-responsive gene 1
    • paired-like homeodomain transcription factor 2
    • pituitary homeobox 2
    • rieg bicoid-related homeobox transcription factor 1
Axenfeld-Rieger Syndrome, Type 3

Bristol RGC - 2008

  • Axenfeld-Rieger Syndrome, Type 3
    • Anterior Chamber Cleavage Syndrome
    • Anterior Segment Mesenchymal Dysgenesis
    • Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/or Sensorineural Hearing Loss
    • Rieger Syndrome, Type 3
  • forkhead box C1
    • forkhead, drosophila, homolog-like 7
    • forkhead-related activator 3

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