Gene Dossiers

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Gene dossier Disorders Genes
MAC and Aniridia 40 Gene Panel

Edinburgh RGC - 2017

  • Aniridia 1
    • Aniridia
    • Aniridia II, Formerly
  • Anterior Segment Dysgenesis 1
    • Anterior Segment Mesenchymal Dysgenesis
    • Anterior Segment Ocular Dysgenesis
  • Anterior Segment Dysgenesis 2
    • Aphakia, Congenital Primary
  • Anterior Segment Dysgenesis 3
    • Iridogoniodysgenesis Anomaly, Autosomal Dominant
    • Iridogoniodysgenesis, Type 1
  • Anterior Segment Dysgenesis 4
    • IRID2
    • Iridogoniodysgenesis Syndrome
    • Iridogoniodysgenesis, Type 2
    • Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant
  • Axenfeld-Rieger Syndrome, Type 1
    • Rieger Syndrome, Type 1
  • 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
  • Baraitser-Winter Syndrome 1
    • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
  • Baraitser-Winter Syndrome 2
  • Bosma Arhinia Microphthalmia Syndrome
    • Arhinia, Chonal Atresia, Microphthalmia, And Hypogonadotrophic Hypogonadism
  • Brain Small Vessel Disease With Or Without Ocular Anomalies
    • Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
    • Brain Small Vessel Disease With Hemorrhage
    • Infantile Hemiparesis
    • Leukoencephalopathy With Axenfeld-Rieger Anomaly
    • Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant
  • Cataract 11, Multiple Types
    • Cataract, Posterior Polar, 4
  • CHARGE Syndrome
    • Charge Association - Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Abnormalities
  • Coloboma Of Optic Nerve
  • Coloboma, Ocular, Autosomal Dominant
    • Coloboma Of Iris, Choroid, And Retina
    • Coloboma, Uveoretinal
  • Coloboma, Ocular, Autosomal Recessive
  • Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
  • Duane-Radial Ray Syndrome
    • Acrorenoocular Syndrome
    • Dr Syndrome
    • Duane Anomaly With Radial Ray Abnormalities And Deafness
    • Okihiro Syndrome
  • Gillespie Syndrome
    • Aniridia, Cerebellar Ataxia, And Mental Retardation
  • Holoprosencephaly 2
  • Holoprosencephaly 3
  • Holoprosencephaly 5
  • Microphthalmia With Limb Anomalies
    • Anophthalmia-Syndactyly
    • Ophthalmoacromelic Syndrome
    • Waardenburg Anophthalmia Syndrome
  • Microphthalmia, Isolated 2
    • Anophthalmia, Clinical, Isolated
  • Microphthalmia, Isolated 3
  • Microphthalmia, Isolated 8
    • 0
  • Microphthalmia, Isolated, With Coloboma 10
  • Microphthalmia, Isolated, With Coloboma 3
    • Microphthalmia, Colobomatous, Isolated 3
  • Microphthalmia, Isolated, With Coloboma 5
  • Microphthalmia, Syndromic 1
  • Microphthalmia, Syndromic 11
  • Microphthalmia, Syndromic 12
  • Microphthalmia, Syndromic 2
    • Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects
    • Oculofaciocardiodental Syndrome
    • OFCD Syndrome
  • Microphthalmia, Syndromic 3
    • Aeg Syndrome
    • Anophthalmia, Clinical, With Associated Anomalies
    • Anophthalmia-Esophageal-Genital Syndrome
    • Microphthalmia And Esophageal Atresia Syndrome
  • Microphthalmia, Syndromic 5
  • Microphthalmia, Syndromic 9
    • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
    • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia
    • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect
    • Spear Syndrome|Matthew-Wood Syndrome
  • Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
  • Mowat-Wilson Syndrome
    • Hirschsprung Disease Syndrome
    • Hirschsprung Disease-Mental Retardation Syndrome
    • Microcephaly, Mental Retardation, And Distinct Facial Features, With
    • Or Without Hirschsprung Disease
  • Papillorenal Syndrome
    • Cakut With Or Without Ocular Abnormalities
    • Coloboma Of Optic Nerve With Renal Disease
    • Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
    • Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
    • Optic Nerve Coloboma With Renal Disease
    • Renal-Coloboma Syndrome
    • Renal-Coloboma Syndrome With Macular Abnormalities
  • Retinal Arteries, Tortuosity Of
  • Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
  • Ring Dermoid Of Cornea
  • Temtamy Syndrome
    • Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
  • Warburg Micro Syndrome 1
    • Micro Syndrome
  • Warburg Micro Syndrome 2
    • Micro Syndrome 2
  • Warburg Micro Syndrome 3
    • Micro Syndrome 3
  • actin, beta
    • actin, cytoplasmic, 1
    • beta-actin
  • actin, gamma 1
    • actin, cytoplasmic, 2
    • actin, gamma
    • actin, gamma-1
    • cytoskeletal gamma-actin
  • aldehyde dehydrogenase 1 family, member A3
    • RALDH3
  • BCL6 corepressor
    • BCL6 co-repressor
  • chromodomain helicase DNA-binding protein 7
  • chromosome 12 open reading frame 57
    • C10
    • GRCC10
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • forkhead box C1
    • forkhead, drosophila, homolog-like 7
    • forkhead-related activator 3
  • forkhead box E3
  • frizzled class receptor 5
    • DKFZP434E2135
    • HFZ5
  • gap junction protein, alpha 8
    • connexin 50
    • gap junction protein, alpha 8, 50kD (connexin 50)
    • gap junction protein, alpha 8, 50kDa
    • gap junction protein, alpha 8, 50kDa (connexin 50)
  • inosine triphosphatase
    • dJ794I6.3
    • HLC14-06-P
  • inositol 1,4,5-trisphosphate receptor, type 1
    • spinocerebellar ataxia 15
    • spinocerebellar ataxia 16
    • spinocerebellar ataxia 29
  • mab-21 like 2
    • 0
  • N(alpha)-acetyltransferase 10, NatA catalytic subunit
    • DXS707
    • TE2
  • orthodenticle homeobox 2
    • orthodenticle homolog 2 (drosophila)
  • paired box 2
  • paired box 6
    • paired box gene 6
    • paired box gene 6 (aniridia, keratitis)
  • paired-like homeodomain 2
    • all1-responsive gene 1
    • paired-like homeodomain transcription factor 2
    • pituitary homeobox 2
    • rieg bicoid-related homeobox transcription factor 1
  • paired-like homeodomain 3
    • anterior segment mesenchymal dysgenesis
    • paired-like homeodomain transcription factor 3
  • RAB18, member RAS oncogene family
  • RAB3 GTPase activating non-catalytic protein subunit 2
    • RAB3 GTPase activating protein subunit 2 (non-catalytic)
  • RAB3 GTPase activating protein catalytic subunit 1
    • RAB3 GTPase activating protein subunit 1 (catalytic)
    • RAB3GAP, 130-kD subunit
    • RAB3GAP, catalytic subunit
    • WARBM1 gene
  • retina and anterior neural fold homeobox
    • RX
  • retinoic acid receptor beta
    • HAP
    • NR1B2
    • RRB2
  • retinol binding protein 4
    • 0
  • SIX homeobox 3
    • holoprosencephaly 2, alobar or semiloba
    • sine oculis homeobox, drosophila, homolog of, 3
  • sonic hedgehog
    • sonic hedgehog (Drosophila) homolog
    • sonic hedgehog homolog (Drosophila)
  • spalt-like transcription factor 2
    • Hsal2
    • KIAA0360
    • ZNF795
  • spalt-like transcription factor 4
    • sal-like 4 (drosophila)
  • SPARC related modular calcium binding 1
    • 0
  • SRY-box 2
    • SRY (sex determining region Y)-box 2
    • SRY related HMG-box gene 2
    • SRY-box 2
  • stimulated by retinoic acid 6
  • structural maintenance of chromosomes flexible hinge domain containing 1
    • SMC hinge domain-containing protein 1
    • structural maintenance of chromosomes flexible hinge domain-containing protein 1
  • TBC1 domain family member 20
    • dJ852M4.2
  • ventral anterior homeobox 1
    • 0
  • visual system homeobox 2
    • RET1
  • Yes associated protein 1
    • YAP65
  • zic family member 2
    • ZIC family member 2
    • Zic family member 2 (odd-paired Drosophila homolog)
    • Zic family member 2 (odd-paired homolog, Drosophila)
    • zinc finger protein of cerebellum 2
  • zinc finger E-box binding homeobox 2
    • smad-interacting protein 1
    • zinc finger homeobox 1B
MAC and Aniridia 40 Gene Panel, List of Disorders and Genes

Edinburgh RGC - 2017

  • Aniridia 1
    • Aniridia
    • Aniridia II, Formerly
  • Anterior Segment Dysgenesis 1
    • Anterior Segment Mesenchymal Dysgenesis
    • Anterior Segment Ocular Dysgenesis
  • Anterior Segment Dysgenesis 2
    • Aphakia, Congenital Primary
  • Anterior Segment Dysgenesis 3
    • Iridogoniodysgenesis Anomaly, Autosomal Dominant
    • Iridogoniodysgenesis, Type 1
  • Anterior Segment Dysgenesis 4
    • IRID2
    • Iridogoniodysgenesis Syndrome
    • Iridogoniodysgenesis, Type 2
    • Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant
  • Axenfeld-Rieger Syndrome, Type 1
    • Rieger Syndrome, Type 1
  • 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
  • Baraitser-Winter Syndrome 1
    • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
  • Baraitser-Winter Syndrome 2
  • Bosma Arhinia Microphthalmia Syndrome
    • Arhinia, Chonal Atresia, Microphthalmia, And Hypogonadotrophic Hypogonadism
  • Brain Small Vessel Disease With Or Without Ocular Anomalies
    • Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
    • Brain Small Vessel Disease With Hemorrhage
    • Infantile Hemiparesis
    • Leukoencephalopathy With Axenfeld-Rieger Anomaly
    • Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukoencephalopathy, Autosomal Dominant
  • Cataract 11, Multiple Types
    • Cataract, Posterior Polar, 4
  • CHARGE Syndrome
    • Charge Association - Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Abnormalities
  • Coloboma Of Optic Nerve
  • Coloboma, Ocular, Autosomal Dominant
    • Coloboma Of Iris, Choroid, And Retina
    • Coloboma, Uveoretinal
  • Coloboma, Ocular, Autosomal Recessive
  • Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
  • Duane-Radial Ray Syndrome
    • Acrorenoocular Syndrome
    • Dr Syndrome
    • Duane Anomaly With Radial Ray Abnormalities And Deafness
    • Okihiro Syndrome
  • Gillespie Syndrome
    • Aniridia, Cerebellar Ataxia, And Mental Retardation
  • Holoprosencephaly 2
  • Holoprosencephaly 3
  • Holoprosencephaly 5
  • Microphthalmia With Limb Anomalies
    • Anophthalmia-Syndactyly
    • Ophthalmoacromelic Syndrome
    • Waardenburg Anophthalmia Syndrome
  • Microphthalmia, Isolated 2
    • Anophthalmia, Clinical, Isolated
  • Microphthalmia, Isolated 3
  • Microphthalmia, Isolated 8
    • 0
  • Microphthalmia, Isolated, With Coloboma 10
  • Microphthalmia, Isolated, With Coloboma 3
    • Microphthalmia, Colobomatous, Isolated 3
  • Microphthalmia, Isolated, With Coloboma 5
  • Microphthalmia, Syndromic 1
  • Microphthalmia, Syndromic 11
  • Microphthalmia, Syndromic 12
  • Microphthalmia, Syndromic 2
    • Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects
    • Oculofaciocardiodental Syndrome
    • OFCD Syndrome
  • Microphthalmia, Syndromic 3
    • Aeg Syndrome
    • Anophthalmia, Clinical, With Associated Anomalies
    • Anophthalmia-Esophageal-Genital Syndrome
    • Microphthalmia And Esophageal Atresia Syndrome
  • Microphthalmia, Syndromic 5
  • Microphthalmia, Syndromic 9
    • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
    • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia
    • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect
    • Spear Syndrome|Matthew-Wood Syndrome
  • Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
  • Mowat-Wilson Syndrome
    • Hirschsprung Disease Syndrome
    • Hirschsprung Disease-Mental Retardation Syndrome
    • Microcephaly, Mental Retardation, And Distinct Facial Features, With
    • Or Without Hirschsprung Disease
  • Papillorenal Syndrome
    • Cakut With Or Without Ocular Abnormalities
    • Coloboma Of Optic Nerve With Renal Disease
    • Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
    • Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
    • Optic Nerve Coloboma With Renal Disease
    • Renal-Coloboma Syndrome
    • Renal-Coloboma Syndrome With Macular Abnormalities
  • Retinal Arteries, Tortuosity Of
  • Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
  • Ring Dermoid Of Cornea
  • Temtamy Syndrome
    • Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
  • Warburg Micro Syndrome 1
    • Micro Syndrome
  • Warburg Micro Syndrome 2
    • Micro Syndrome 2
  • Warburg Micro Syndrome 3
    • Micro Syndrome 3
  • actin, beta
    • actin, cytoplasmic, 1
    • beta-actin
  • actin, gamma 1
    • actin, cytoplasmic, 2
    • actin, gamma
    • actin, gamma-1
    • cytoskeletal gamma-actin
  • aldehyde dehydrogenase 1 family, member A3
    • RALDH3
  • BCL6 corepressor
    • BCL6 co-repressor
  • chromodomain helicase DNA-binding protein 7
  • chromosome 12 open reading frame 57
    • C10
    • GRCC10
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • forkhead box C1
    • forkhead, drosophila, homolog-like 7
    • forkhead-related activator 3
  • forkhead box E3
  • frizzled class receptor 5
    • DKFZP434E2135
    • HFZ5
  • gap junction protein, alpha 8
    • connexin 50
    • gap junction protein, alpha 8, 50kD (connexin 50)
    • gap junction protein, alpha 8, 50kDa
    • gap junction protein, alpha 8, 50kDa (connexin 50)
  • inosine triphosphatase
    • dJ794I6.3
    • HLC14-06-P
  • inositol 1,4,5-trisphosphate receptor, type 1
    • spinocerebellar ataxia 15
    • spinocerebellar ataxia 16
    • spinocerebellar ataxia 29
  • mab-21 like 2
    • 0
  • N(alpha)-acetyltransferase 10, NatA catalytic subunit
    • DXS707
    • TE2
  • orthodenticle homeobox 2
    • orthodenticle homolog 2 (drosophila)
  • paired box 2
  • paired box 6
    • paired box gene 6
    • paired box gene 6 (aniridia, keratitis)
  • paired-like homeodomain 2
    • all1-responsive gene 1
    • paired-like homeodomain transcription factor 2
    • pituitary homeobox 2
    • rieg bicoid-related homeobox transcription factor 1
  • paired-like homeodomain 3
    • anterior segment mesenchymal dysgenesis
    • paired-like homeodomain transcription factor 3
  • RAB18, member RAS oncogene family
  • RAB3 GTPase activating non-catalytic protein subunit 2
    • RAB3 GTPase activating protein subunit 2 (non-catalytic)
  • RAB3 GTPase activating protein catalytic subunit 1
    • RAB3 GTPase activating protein subunit 1 (catalytic)
    • RAB3GAP, 130-kD subunit
    • RAB3GAP, catalytic subunit
    • WARBM1 gene
  • retina and anterior neural fold homeobox
    • RX
  • retinoic acid receptor beta
    • HAP
    • NR1B2
    • RRB2
  • retinol binding protein 4
    • 0
  • SIX homeobox 3
    • holoprosencephaly 2, alobar or semiloba
    • sine oculis homeobox, drosophila, homolog of, 3
  • sonic hedgehog
    • sonic hedgehog (Drosophila) homolog
    • sonic hedgehog homolog (Drosophila)
  • spalt-like transcription factor 2
    • Hsal2
    • KIAA0360
    • ZNF795
  • spalt-like transcription factor 4
    • sal-like 4 (drosophila)
  • SPARC related modular calcium binding 1
    • 0
  • SRY-box 2
    • SRY (sex determining region Y)-box 2
    • SRY related HMG-box gene 2
    • SRY-box 2
  • stimulated by retinoic acid 6
  • structural maintenance of chromosomes flexible hinge domain containing 1
    • SMC hinge domain-containing protein 1
    • structural maintenance of chromosomes flexible hinge domain-containing protein 1
  • TBC1 domain family member 20
    • dJ852M4.2
  • ventral anterior homeobox 1
    • 0
  • visual system homeobox 2
    • RET1
  • Yes associated protein 1
    • YAP65
  • zic family member 2
    • ZIC family member 2
    • Zic family member 2 (odd-paired Drosophila homolog)
    • Zic family member 2 (odd-paired homolog, Drosophila)
    • zinc finger protein of cerebellum 2
  • zinc finger E-box binding homeobox 2
    • smad-interacting protein 1
    • zinc finger homeobox 1B
Macular Dystrophy Disorders

Manchester RGC - 2010

  • Bestrophinopathy, Autosomal Recessive
    • Bestrophinopathy
  • Macular Dystrophy, Vitelliform, 2
    • Best Disease
    • Best Macular Dystrophy
    • Macular Degeneration, Polymorphic VItelline
    • Macular Dystrophy, Vitelliform
    • Vitelliform Macular Dystrophy
    • Vitelliform Macular Dystrophy, Early-Onset
    • Vitelliform Macular Dystrophy, Juvenile-Onset
  • Macular Dystrophy, Vitelliform, 3
    • Foveomacular Dystrophy, Adult-Onset
    • Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization
    • Macular Dystrophy, Vitelliform, Adult-Onset
    • Vitelliform Macular Dystrophy, Adult-Onset
  • Vitreoretinochoroidopathy
    • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
    • Vitreoretinochoroidopathy, Autosomal Dominant
    • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
  • bestrophin 1
    • best disease
    • vmd2 gene
Malignant Hyperthermia Susceptibility 1 and 5

Leeds RGC - 2013

  • Malignant Hyperthermia, Susceptibility To, 1
    • Hyperpyrexia, Malignant
    • Hyperthermia Of Anesthesia
    • King Syndrome, Included
    • King-Denborough Syndrome, Included
    • Mhs
  • Malignant Hyperthermia, Susceptibility To, 5
  • calcium voltage-gated channel subunit alpha 1S
    • calcium channel, l type, alpha-1 polypeptide, isoform 3, skeletal
    • calcium channel, skeletal muscle dihydropyridine-sensitive, alpha-1 subunit
    • calcium channel, voltage-dependent, l type, alpha 1S subunit
    • calcium channel, voltage-dependent, l type, alpha-1s subunit
    • muscle
  • ryanodine receptor 1
    • ryanodine receptor 1 (skeletal)
    • ryanodine receptor, skeletal muscle
    • sarcoplasmic reticulum calcium release channel
Malignant Melanoma

Leeds RGC - 2009

  • Melanoma, Cutaneous Malignant, Susceptibility To, 2
  • Melanoma, Cutaneous Malignant, Susceptibility To, 3
  • cyclin-dependent kinase 4
    • cell division kinase 4
  • cyclin-dependent kinase inhibitor 2A
    • CDK4 inhibitor
    • cyclin-dependent kinase inhibitor 2A
    • cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
    • multiple tumor suppressor 1
Mandibulofacial Dysostosis, Guion-Almeida Type

Exeter RGC - 2013

  • Mandibulofacial Dysostosis, Guion-Almeida Type
    • Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate
    • Mandibulofacial Dysostosis with Microcephaly
  • elongation factor Tu GTP binding domain containing 2
    • U5 snRNP-specific protein, 116-kD
    • U5-116kD
MCAP and Clove Syndrome

Manchester RGC - 2013

  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
    • Clove Syndrome
    • Cloves Syndrome
    • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
Meckel Syndrome

Leeds RGC - 2008

Mental Retardation, X-Linked, Syndromic, Christianson Type

Cardiff RGC - 2011

  • Mental Retardation, X-Linked, Syndromic, Christianson Type
    • Angelman-Like Syndrome, X-Linked
    • Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
  • solute carrier family 9 member A6
    • sodium/hydrogen exchanger 6
    • solute carrier family 9 (sodium/hydrogen exchanger), isoform 6
    • solute carrier family 9 (sodium/hydrogen exchanger), member 6
    • solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait

Cambridge RGC - 2010

  • Mental Retardation, X-Linked, Syndromic 15 (Cabezas type)
    • Cabezas Syndrome
    • Mental Retardation, X-Linked, Syndromic 15
    • Mental Retardation, X-Linked, With Short Stature
    • Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
  • cullin 4B

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