Genes, Locations and Genetic Disorders on Chromosome 21

Last Updated: Sun Aug 6 22:00:02 EDT 2000
GeneGDB AccessionIDLocationOMIM Link
AIRE GDB:56719821q22.3-21q22.3 AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY; APECED
APP GDB:11969221q21.2-21q21.2 21q21.3-21q21.3 ALZHEIMER DISEASE; AD
AMYLOID BETA A4 PRECURSOR PROTEIN; APP
CBS GDB:11975421q22.3-21q22.3 HOMOCYSTINURIA
COL6A1 GDB:11906521q22.3-21q22.3 COLLAGEN, TYPE VI, ALPHA-1 CHAIN; COL6A1
COL6A2 GDB:11979321q22.3-21q22.3 COLLAGEN, TYPE VI, ALPHA-2 CHAIN; COL6A2
CSTB GDB:521524921q22.3-21q22.3 MYOCLONUS EPILEPSY OF UNVERRICHT AND LUNDBORG
CYSTATIN B; CSTB
DCR GDB:12535421q22.2-21q22.3 TRISOMY 21
DSCR1 GDB:73100021q22.1-21q22.2 21q22.12-21q22.12 TRISOMY 21

FPDMM GDB:995461021q22.1-21q22.2 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2; CBFA2
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
HLCS GDB:39264821q22.1-21q22.1 21q22.2-21q22.2 21q22.13-21q22.13 MULTIPLE CARBOXYLASE DEFICIENCY, BIOTIN-RESPONSIVE; MCD
HPE1 GDB:13606521q22.3-21q22.3 HOLOPROSENCEPHALY, FAMILIAL ALOBAR
ITGB2 GDB:12057421q22.3-21q22.3 INTEGRIN BETA-2; ITGB2
KCNE1 GDB:12790921q22.1-21q22.2 21q22.12-21q22.12 POTASSIUM VOLTAGE-GATED CHANNEL, ISK-RELATED SUBFAMILY, MEMBER 1;
KNO GDB:407304421q22.3-21q22.3 KNOBLOCH SYNDROME; KNO
PRSS7 GDB:38408321q21-21q21 21q21.1-21q21.1 ENTEROKINASE DEFICIENCY
RUNX1 GDB:12831321q22.1-21q22.1 21q22.1-21q22.2 21q22.12-21q22.12 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2; CBFA2
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
SOD1 GDB:11959621q22.1-21q22.1 AMYOTROPHIC LATERAL SCLEROSIS
SUPEROXIDE DISMUTASE-1; SOD1
TAM GDB:995870921q11.2-21q11.2 MYELOPROLIFERATIVE SYNDROME, TRANSIENT