|
|
 Symbol
|
 Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
| ABCD1 |
ATP-binding cassette, sub-family D (ALD), member 1 |
X |
q28 |
1 |
0 |
0 |
N/A |
NEU-ALD |
| APC |
adenomatous polyposis coli |
5 |
q21-q22 |
1 |
0 |
0 |
N/A |
CAN-FAP1 |
| ATP7B |
ATPase, Cu++ transporting, beta polypeptide |
13 |
q14.3 |
1 |
0 |
0 |
N/A |
END-WD |
| BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
7 |
q34 |
1 |
0 |
0 |
N/A |
- |
| BRCA1 |
breast cancer 1, early onset |
17 |
q21.31 |
1 |
0 |
0 |
N/A |
CAN-BRCA |
| BRCA2 |
breast cancer 2, early onset |
13 |
q12-q13 |
1 |
0 |
0 |
N/A |
CAN-BRCA |
| BSND |
barttin CLCNK-type chloride channel accessory beta subunit |
1 |
p32.3 |
1 |
0 |
0 |
N/A |
KID-BSND |
| CFTR |
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
7 |
q31-q32 |
1 |
0 |
0 |
N/A |
END-CF |
| CYP27A1 |
cytochrome P450, family 27, subfamily A, polypeptide 1 |
2 |
q35 |
1 |
0 |
0 |
N/A |
NEU-CTX |
| DMD |
dystrophin |
X |
p21.2 |
1 |
0 |
0 |
N/A |
NEU-DMD |
| GH1 |
growth hormone 1 |
17 |
q22-q24 |
1 |
0 |
0 |
N/A |
END-IGHD1A |
| GJB1 |
gap junction protein, beta 1, 32kDa |
X |
q13.1 |
1 |
0 |
0 |
N/A |
NEU-CMTX1 |
| GJB2 |
gap junction protein, beta 2, 26kDa |
13 |
q11-q12 |
0 |
0 |
0 |
N/A |
SEN-DFNB1A |
| MECP2 |
methyl CpG binding protein 2 |
X |
q28 |
1 |
0 |
0 |
N/A |
NEU-RTT |
| MEN1 |
multiple endocrine neoplasia I |
11 |
q13 |
1 |
0 |
0 |
N/A |
CAN-MEN1 |
| MLH1 |
mutL homolog 1 |
3 |
p22.3 |
1 |
12 |
11 |
2014-10-27 |
CAN-COL, CAN-LYNCH |
| MPZ |
myelin protein zero |
1 |
q22 |
1 |
0 |
0 |
N/A |
NEU-CMTX0 |
| MSH2 |
mutS homolog 2 |
2 |
p21 |
1 |
13 |
10 |
2014-10-27 |
CAN-COL, CAN-LYNCH |
| MSH6 |
mutS homolog 6 |
2 |
p16 |
1 |
0 |
0 |
N/A |
CAN-COL, CAN-LYNCH |
| NF1 |
neurofibromin 1 |
17 |
q11.2 |
1 |
0 |
0 |
N/A |
NEU-NF1 |
| NOTCH3 |
notch 3 |
19 |
p13.2-p13.1 |
1 |
0 |
0 |
N/A |
CAR-CADASIL |
| OCRL |
oculocerebrorenal syndrome of Lowe |
X |
q25 |
1 |
0 |
0 |
N/A |
KID-OCRL |
| PARK2 |
parkin RBR E3 ubiquitin protein ligase |
6 |
q25.2-q27 |
1 |
0 |
0 |
N/A |
NEU-PARK2 |
| PMS2 |
PMS2 postmeiotic segregation increased 2 (S. cerevisiae) |
7 |
p22.1 |
1 |
0 |
0 |
N/A |
CAN-COL, CAN-LYNCH |
| RB1 |
retinoblastoma 1 |
13 |
q14.2 |
1 |
163 |
116 |
2014-11-11 |
CAN-RB1 |
| RPGR |
retinitis pigmentosa GTPase regulator |
X |
p11.4 |
1 |
0 |
0 |
N/A |
SEN-RP3 |
| RS1 |
retinoschisin 1 |
X |
p22.2-p22.1 |
1 |
0 |
0 |
N/A |
SEN-RS1 |
| SERPINA1 |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
14 |
q32.1 |
1 |
0 |
0 |
N/A |
- |
| SPAST |
spastin |
2 |
p24-p21 |
1 |
0 |
0 |
N/A |
NEU-SPG4 |
| TP53 |
tumor protein p53 |
17 |
p13.1 |
1 |
0 |
0 |
N/A |
CAN-LFS1 |
| VHL |
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase |
3 |
p25.3 |
2 |
0 |
0 |
N/A |
- |
|
|
