Gene Dossiers

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Gene dossier Disorders Genes
Alagille Syndrome 2

Exeter RGC - 2009

  • Alagille Syndrome 2
  • notch 2
    • notch homolog 2 (drosophila)
Aldosterone Synthase Deficiency

London UCLH Biochemistry - 2010

  • Corticosterone Methyloxidase Type I Deficiency
    • 18-@hydroxylase Deficiency
    • Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase
    • Aldosterone Deficiency I
    • Cmo I Deficiency
    • Hyperreninemic Hypoaldosteronism, Familial, 1
    • Steroid 18-@hydroxylase Deficiency
  • Corticosterone Methyloxidase Type II Deficiency
    • 18-@oxidase Deficiency
    • Aldosterone Deficiency Due To Deficiency Of Steroid 18-Oxidase
    • Aldosterone Deficiency II
    • Cmo II Deficiency
    • Steroid 18-Oxidase Deficiency
  • cytochrome P450, family 11, subfamily B, member 2
    • aldosterone deficiency due to deficiency of 18-hydroxysteroid dehydrogenase, included
    • aldosterone deficiency II, included
    • aldosterone synthase
    • CMO II deficiency, included
    • corticosterone methyl oxidase type II deficiency, included
    • cytochrome P450, family 11, subfamily B, polypeptide 2
    • cytochrome p450, subfamily XIB, polypeptide 2
    • hyperreninemic hypoaldosteronism, familial, 1, included
    • steroid 11-beta-hydroxylase
Alport Syndromes 5 Gene Panel

London South East RGC GSTT - 2014

  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • Nephrotic Syndrome, Type 2
    • Nephrotic Syndrome, Idiopathic
    • Nephrotic Syndrome, Idiopathic, Included
    • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
  • collagen, type IV, alpha 6 chain
    • collagen, type IV, alpha 6
  • NPHS2, podocin
    • nephrosis 2, idiopathic, steroid-resistant (podocin)
    • nephrosis 2, idiopathic, steroid-resistant podocin
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins

Exeter RGC - 2012

  • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
    • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies
    • Pulmonary Hypertension, Familial Persistent, Of The Newborn
  • forkhead box F
    • forkhead, drosophila, homolog-like 5
    • forkhead-related activator 1
Alzheimer Disease

Cambridge RGC - 2011

  • Alzheimer Disease
    • Alzheimer Disease, Familial
    • Alzheimer Disease, Familial, 1, Included
    • Presenile And Senile Dementia
  • amyloid beta precursor protein
    • alzheimer disease 1, included
    • amyloid beta (A4) precursor protein
    • amyloid of aging and alzheimer disease
    • cerebral vascular amyloid peptide
    • protease nexin II, included
Amegakaryocytic Thrombocytopenia, Congenital

Bristol RGC - 2011

  • Amegakaryocytic Thrombocytopenia, Congenital
  • MPL proto-oncogene, thrombopoietin receptor
    • myeloproliferative leukemia virus oncogene
    • myeloproliferative leukemia virus, mouse, homolog of
    • thrombopoietin receptor
Amelogenesis Imperfecta Disorders 21 Gene Panel

Leeds RGC - 2016

  • Amelogenesis Imperfecta, Hypomaturation Type, IIA1
    • Amelogenesis Imperfecta, Pigmented Hypomaturation Type 1
    • Amelogenesis Imperfecta, Type IIA1
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA2
    • Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2
    • Amelogenesis Imperfecta, Type IIA2
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA3
    • Amelogenesis Imperfecta, Type IIA3
  • Amelogenesis Imperfecta, Hypomaturation Type, IIA4
    • Amelogenesis Imperfecta, Type IIA4
  • Amelogenesis Imperfecta, Type IA
    • Amelogenesis Imperfecta, Hypoplastic Type IA
  • Amelogenesis Imperfecta, Type IC
    • Amelogenesis Imperfecta, Hypoplastic, With Or Without Openbite Malocclusion, Autosomal Recessive
    • Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive
  • Amelogenesis Imperfecta, Type IE
    • Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth
    • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
    • Amelogenesis Imperfecta, X-Linked 1
    • Enamel Hypoplasia, X-Linked
  • Amelogenesis Imperfecta, Type IG
    • Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome; AIGFS
    • Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis
    • Enamel-Renal Syndrome
    • Enamel-Renal-Gingival Syndrome
  • Amelogenesis Imperfecta, Type III
    • Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant
    • Amelogenesis Imperfecta, Hypomineralization Type
  • Amelogenesis Imperfecta, Type IV
  • Heimler Syndrome 1
    • Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
    • Peroxisome Biogenesis Disorder 1C
  • Heimler Syndrome 2
    • Peroxisome Biogenesis Disorder 4C
  • Immunodeficiency 10
    • Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2|Stim1 Deficiency
  • Immunodeficiency 9
    • Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1
  • Raine Syndrome
    • Osteosclerotic Bone Dysplasia, Lethal
  • amelogenin, X-linked
    • amelogenin
    • amelogenin (amelogenesis imperfecta 1, X-linked)
  • collagen, type XVII, alpha 1 chain
    • collagen, type XVII, alpha 1
  • distal-less homeobox 3
  • enamelin
    • amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
  • FAM20A, golgi associated secretory pathway pseudokinase
    • DKFZp434F2322
    • family with sequence similarity 20, member A
  • FAM20C, golgi associated secretory pathway kinase
    • dentin matrix protein 4
    • family with sequence similarity 20, member C
  • family with sequence similarity 83, member H
    • FLJ46072
  • G protein-coupled receptor 68
    • 0
  • integrin subunit beta 4
    • integrin, beta 4
  • kallikrein related peptidase 4
    • kallikrein 4 (prostase, enamel matrix, prostate)
    • PRSS17
  • laminin subunit alpha 3
    • BM600-150kDa
    • epiligrin, k
    • kalinin-165kDa
    • laminin, alpha 3
    • laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)
    • nicein-150kDa
  • laminin subunit beta 3
    • BM600-125kDa
    • kalinin-140kDa
    • laminin, beta 3
    • laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))
    • nicein-125kDa
  • laminin subunit gamma 2
    • BM600-100kDa, ,
    • kalinin-105kDa
    • laminin, gamma 2
    • laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))
    • nicein-100kDa
  • latent transforming growth factor beta binding protein 3
  • matrix metallopeptidase 20
    • matrix metalloproteinase 20 (enamelysin)
  • odontogenesis associated phosphoprotein
    • chromosome 4 open reading frame 26
    • FLJ23657
  • ORAI calcium release-activated calcium modulator 1
    • transmembrane protein 142A
  • peroxisomal biogenesis factor 1
    • peroxin 1
  • peroxisomal biogenesis factor 6
    • peroxin 6
    • peroxisomal assembly factor 2
    • peroxisomal-type ATPase 1
  • stromal interaction molecule 1
  • WD repeat domain 72
    • FLJ38736
Amyotrophic Lateral Sclerosis 6 and 10

Sheffield RGC - 2010

Amyotrophic Lateral Sclerosis, 6 and 10

Sheffield RGC - 2010

  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
  • FUS RNA binding protein
    • fused in sarcoma
    • heterogeneous nuclear ribonucleoprotein p2
    • translocated in liposarcoma
Amyotrophic Lateral Sclerosis, 6 and 10

Sheffield RGC - 2010

  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
    • Frontotemporal Dementia With Tdp43 Inclusions, Tardbp-Related, Included
    • Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Tardbp-Related, Included
    • Ftld-Tdp, Tardbp-Related, Included
  • TAR DNA binding protein

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