Names of Genes on Chromosome 21

Gene Location Syndrome Category
allp and qDown syndromeTrisomies (Down Syndrome) spectrum
AUTS12p13-q11AUTISMAutism spectrum
ANKRD30BP2q11.2Autism 18 (AUTS18)Autism spectrum
APPq21.3hereditary cerebral amyloid angiopathyAlzheimer Syndrome
APPq21.3Alzheimer - early onsetAlzheimer Syndrome
DSCAMq22Down syndromeTrisomies (Down Syndrome) spectrum
SOD1q22.1Amyotrophic lateral sclerosis (ALS)Copper metabolism defects
IL10RBq22.11Ulcerative colitisIrritable Bowel Disorders
SOD1q22.11ALSALS - amyotrophic lateral sclerosis
SONq22.11Zhu-Tokita-Takenouchi-Kim syndromeAutism spectrum
SYNJ1q22.11Parkinson disease early onsetParkinsonism
ZTTKSq22.11ZTTK SYNDROMEAutism spectrum
RCAN1q22.12Alzheimer - late onsetAlzheimer Syndrome
RCAN1q22.12Rheumatoid arthritisArthritis
RUNX1q22.12Acute myeloid leukemiaLeukemia
RUNX1q22.12Rheumatoid arthritisArthritis
DYRK1Aq22.13Mental retardation autosomal dominant 07 (MRD7)Autism spectrum
HLCSq22.13Holocarboxylase synthetase deficiency with alopeciaAlopecia
HLCSq22.13Holocarboxylase synthetase deficiencyAutism spectrum
MRD7q22.13MENTAL RETARDATION AUTOSOMAL DOMINANT 7Autism spectrum
AIREq22.3APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyAlopecia
CBSq22.3HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCYAutism spectrum
CRYAAq22.3Cataract 09 multiple types (CTRCT9)Cataracts
CTSBq22.3Unverricht-Lundborg diseaseAtaxia spectrum
EIEE30q22.3EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 30Autism spectrum
KNO1q22.3KNOBLOCH SYNDROME 1Autism spectrum
PCNTq22.3Osteodysplastic primordial dwarfism type IIMicrocephaly


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