From: After 'completion': the changing face of human chromosomes 21 and 22
Gene symbol | Total publications | Publications since [2] | OMIM number | Disorder |
---|---|---|---|---|
APP | 132 | 39 (30%) | 104760 | Cerebroarterial, Dutch type amyloidosis; APP-related Alzheimer disease-1; chronic schizophrenia |
CBS | 132 | 14 (11%) | 236200 | B6-responsive and nonresponsive comocystinuria; hyperhomocysteinemic thrombosis |
SOD1 | 129 | 27 (21%) | 147450 | Amytrophic lateral sclerosis due to SOD1 deficiency |
ITGB2 | 68 | 5 (7%) | 600065 | Leukocyte adhesion deficiency |
DCR | 44 | 5 (11%) | 190685 | Down syndrome |
HPE1 | 40 | 5 (13%) | 236100 | Holoprosencephaly-1 |
RUNX1 | 28 | 6 (21%) | 151385 | Acute myeloid leukemia; familial platelet disorder with associated myeloid malignancy |
COL6A1 | 28 | 4 (14%) | 120220 | Bethlem myopathy |
HLCS | 28 | 2 (7%) | 253270 | Biotin-responsive and biotin-unresponsive multiple carboxylase deficiency |
AIRE | 23 | 10 (43%) | 607358 | Autoimmune polyglandular disease, type I |
PFKL | 20 | 0 (0%) | 171860 | Hemolytic anemia due to phosphofructokinase deficiency |
CRYAA | 19 | 3 (16%) | 123580 | Cataract, zonular central nuclear, autosomal dominant; cataract, congenital progressive, autosomal recessive; cataract, autosomal dominant nuclear |
KCNE1 | 18 | 2 (11%) | 176261 | Jervell and Lange-Nielsen syndrome; long QT syndrome-5 |
CSTB | 17 | 2 (12%) | 601145 | Progressive myoclonic epilepsy 1 |
COL18A1 | 14 | 6 (43%) | 120328 | Knobloch syndrome |
DYRK1A | 10 | 2 (20%) | 600855 | Possible triplicate state responsible for mental defect in Down syndrome |
COL6A2 | 9 | 4 (44%) | 120240 | Bethlem myopathy; Ullrich scleroatonic muscular dystrophy |
IFNGR2 | 8 | 0 (0%) | 147569 | Atypical, familial disseminated mycobacterial infection |
TAM | 6 | 0 (0%) | 159595 | Transient leukemia of Down syndrome |
PRSS7 | 5 | 1 (20%) | 606635 | Enterokinase deficiency |
TMPRSS3 | 4 | 4 (100%) | 605511 | Autosomal recessive childhood onset deafness 8; congenital autosomal recessive deafness 10 |
SLC5A3 | 4 | 0 (0%) | 600444 | {Possible role in Down syndrome} |
FTCD | 3 | 1 (33%) | 606806 | Glutamate formiminotransferase deficiency |
CLDN14 | 2 | 1 (50%) | 605608 | Autosomal recessive deafness 29 |
KCNE2 | 1 | 0 (0%) | 603796 | Long QT syndrome-6 |
USH1E | 1 | 0 (0%) | 602097 | Usher syndrome, type 1E |