Names of Genes - other categories

Category Gene Chromosome Location Syndrome
Copper metabolism defectsAFP4q13.3Alpha-fetoprotein hereditary persistence (HPAFP)
Copper metabolism defectsATP7A23q21.1Menkes syndrome.
Copper metabolism defectsATP7B13q14.3Wilson Disease - copper
Copper metabolism defectsCCDC2223p11.23Ritscher-Schinzel syndrome 2 (RTSC2)
Copper metabolism defectsPRNP20p13Wilson Disease - copper
Copper metabolism defectsSOD121q22.1Amyotrophic lateral sclerosis (ALS)
Copper metabolism defectsSTEAP32q14.2Hypochromic microcytic anemia with iron overload 2 (AHMIO2)
Copper metabolism defectsWASHC58q24.13Spastic paraplegia type 8
DyslexiaDCDC26p22.3Dyslexia type 2
DyslexiaDNAAF415q21.3Dyslexia type 1
DyslexiaKIAA03196p22.3Dyslexia type 2
EncephalitisCACNA1H16p13.3childhood absence epilepsy 6
EncephalitisRANBP22q13Acute necrotizing encephalopathy type 1
EncephalitisSTAT12q32.2familial candidiasis (yeast infections)
EncephalitisUNC93B111q13.2Herpes simplex encephalitis 1 (HSE1)
FibrochondrogenesisCOL11A11p21.1Fibrochondrogenesis type 1
FibrochondrogenesisCOL11A26p21.32Fibrochondrogenesis type 2
GalactosemiaGALE1p36.11Galactosemia (type III)
GalactosemiaGALK117q25.1Galactosemia (type II)
GalactosemiaGALT9p13.3Galactosemia (type I)
Gluten intoleranceHLA-DQA16p21.3Gluten allergy
Gluten intoleranceHLA-DQB16p21.3Gluten allergy
Gluten intoleranceRMRP9p13.3Gluten allergy
Guillain-Barre spectrumCASP102q33.1Autoimmune lymphoproliferative syndrome
Guillain-Barre spectrumCASP82q33.1Autoimmune lymphoproliferative syndrome
Guillain-Barre spectrumFAS10q23.31Autoimmune lymphoproliferative syndrome
Guillain-Barre spectrumFASLG1q24.3Autoimmune lymphoproliferative syndrome
Guillain-Barre spectrumKRAS12p12.1Autoimmune lymphoproliferative syndrome
Guillain-Barre spectrumNRAS1p13.2Autoimmune lymphoproliferative syndrome
Guillain-Barre spectrumTNF6p21.33Guillain-Barré syndrome
Huntington`s disease spectrumCASP82q33.1Huntington`s disease
Huntington`s disease spectrumHIP17q11.23Huntington`s disease
Huntington`s disease spectrumHTT4p16.3Huntington`s disease
Huntington`s disease spectrumJPH316q24.2Huntington disease-like syndrome type 2
Huntington`s disease spectrumKALRN3q21.1Huntington`s disease
Huntington`s disease spectrumPFN117p13.2Huntington`s disease
Huntington`s disease spectrumPRNP20p13Huntington disease-like syndrome type 1
Huntington`s disease spectrumSETD23p21.31Huntington`s disease
Huntington`s disease spectrumTBP6q27Huntington disease-like syndrome type 4
Huntington`s disease spectrumTSPAN723p11.4Huntington`s disease
HyperlipidemiaAGL1p21.2Glycogen storage disease type III
HyperlipidemiaCAT11p13Acatalasemia
HyperlipidemiaG6PC17q21.31Glycogen storage disease type I
HyperlipidemiaLIPC15q21.3Hepatic lipase deficiency
HyperlipidemiaLPL8p21.3Familial lipoprotein lipase deficiency
HyperlipidemiaSLC37A411q23.3Glycogen storage disease type I
HyperlipidemiaUSF11q23.3Hyperlipidemia combined 1
HyperthyroidismCD4020q13.12Graves disease - overactive thyroid
HyperthyroidismCTLA42q33.2Graves disease - overactive thyroid
HyperthyroidismFOXP323p11.23IPEX immune dysregulation polyendocrinopathy enteropathy X-linked syndrome
HyperthyroidismGNAS20q13.32McCune-Albright syndrome (overactive thyroid)
HyperthyroidismHLA-DRB16p21.32Graves disease - overactive thyroid
HyperthyroidismIL2RA10p15.1Graves disease - overactive thyroid
HyperthyroidismPTPN221p13.2Graves disease - overactive thyroid
HyperthyroidismSCGB3A25q32Graves disease - overactive thyroid
HyperthyroidismTG8q24.22Graves disease - overactive thyroid
HyperthyroidismTSHR14q31.1Graves disease - overactive thyroid
Lactose intoleranceLCT2q21Lactase deficiency
Lactose intoleranceMCM62q21Lactase deficiency
LeukemiaABL19q34.12Acute lymphoblastic leukemia
LeukemiaBCR22q11.23Acute lymphoblastic leukemia
LeukemiaETV612p13.2Acute myeloid leukemia
LeukemiaNTRK315q25.3Acute myeloid leukemia
LeukemiaPML15q24.1Acute lymphoblastic leukemia
LeukemiaRARA17q21.2Acute lymphoblastic leukemia
LeukemiaRUNX121q22.12Acute myeloid leukemia
LeukemiaRUNX1T18q22Acute lymphoblastic leukemia
MicrophthalmiaB3GALNT21q42.3Walker-Warburg syndrome
MicrophthalmiaB4GAT111q13.2Walker-Warburg syndrome
MicrophthalmiaBMP414q22.2Microphthalmia syndromic 6 (MCOPS6)
MicrophthalmiaDAG13p21.31Walker-Warburg syndrome
MicrophthalmiaFKRP19q13.32Walker-Warburg syndrome
MicrophthalmiaGDF312p13.31Microphthalmia isolated with coloboma 3 (MCOPCB3)
MicrophthalmiaGDF68q22.1Microphthalmia isolated with coloboma 3 (MCOPCB3)
MicrophthalmiaISPD7p21.2Walker-Warburg syndrome
MicrophthalmiaLARGE122q12.3Walker-Warburg syndrome
MicrophthalmiaMFRP11q23.3Microphthalmia isolated 5 (MCOP5)
MicrophthalmiaOTX214q22.3Microphthalmia isolated with coloboma 3 (MCOPCB3)
MicrophthalmiaPOMGNT11p34.1Walker-Warburg syndrome
MicrophthalmiaPOMGNT23p22.1Walker-Warburg syndrome
MicrophthalmiaPOMK8p11.21Walker-Warburg syndrome
MicrophthalmiaPOMT19q34.13Walker-Warburg syndrome
MicrophthalmiaPOMT214q24.3Walker-Warburg syndrome
MicrophthalmiaPRSS562q37.1Microphthalmia syndromic 6 (MCOPS6)
MicrophthalmiaRAX18q21.32Microphthalmia syndromic 6 (MCOPS6)
MicrophthalmiaRXYLT112q14.2Walker-Warburg syndrome
MicrophthalmiaSIX614q23.1Isolated microphthalmia with cataract type 2 (MCOPCT2)
MicrophthalmiaSOX23q26.33Microphthalmia syndromic 6 (MCOPS6)
MicrophthalmiaSTRA615q24.1Microphthalmia isolated with coloboma 3 (MCOPCB3)
MicrophthalmiaVSX214q24.3Microphthalmia isolated with coloboma 3 (MCOPCB3)
Muscular dystrophiesBAG310q26.11Myofibrillar myopathy
Muscular dystrophiesCRYAB11q23.1Myofibrillar myopathy
Muscular dystrophiesDES2q35Myofibrillar myopathy
Muscular dystrophiesFLNC7q32.1Myofibrillar myopathy
Muscular dystrophiesLDB310q23.2Myofibrillar myopathy
Muscular dystrophiesMYOT5q31.2Myofibrillar myopathy
Muscular dystrophiesPABPN114q11.2Oculopharyngeal muscular dystrophy
NeurofibromatosisNF117q11.2neurofibromatosis type 1
Pervasive Developmental DelayBAZ2B2q24.2Narcissistic Personality Disorder
Pervasive Developmental DelayGPX13p21.31Glutathione peroxidase deficiency
Pervasive Developmental DelayNLGN217p13.1Pervasive Developmental Delay - not otherwise specified
Pervasive Developmental DelayNRXN211q13.1Pervasive Developmental Delay - not otherwise specified
Pervasive Developmental DelayNRXN314q24.3Pervasive Developmental Delay - not otherwise specified
Polymorphous light eruptionGGT111q11.23gamma-Glutamyltransferase deficiency
Polymorphous light eruptionGSR8p12gamma-Glutamyltransferase deficiency
Rhizomelic chondrodysplasia punctataAGPS2q31.2Rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctataGNPAT1q42.2Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctataPEX76q23.3Rhizomelic chondrodysplasia punctata type 1
SchizophreniaNTXN12p16.3Schizophrenia 17
Trisomies (Down Syndrome) spectrumall21p and qDown syndrome
Trisomies (Down Syndrome) spectrumDSCAM21q22Down syndrome


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