|
|
 Symbol
|
 Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
| ABCC8 |
ATP binding cassette subfamily C member 8 |
11 |
p15.1 |
1 |
2 |
2 |
2020-03-03 |
NIDDM |
| AIP |
aryl hydrocarbon receptor interacting protein |
11 |
q13.2 |
1 |
2 |
2 |
2020-03-03 |
PA, ACTH |
| ATM |
ATM serine/threonine kinase |
11 |
q22.3 |
1 |
2 |
1 |
2018-12-07 |
BREAST CANCER |
| ATP7B |
ATPase copper transporting beta |
13 |
q14.3 |
1 |
0 |
0 |
N/A |
WD |
| ATXN3 |
ataxin 3 |
14 |
q21 |
1 |
0 |
0 |
N/A |
MJD |
| BAP1 |
BRCA1 associated protein 1 |
3 |
p21.1 |
1 |
1 |
1 |
2020-03-03 |
TPDS |
| BLK |
BLK proto-oncogene, Src family tyrosine kinase |
8 |
p23.1 |
1 |
1 |
1 |
2020-03-03 |
MODY 11 |
| BRCA1 |
BRCA1, DNA repair associated |
17 |
q21.31 |
1 |
13 |
12 |
2020-10-08 |
BROVCA1 |
| BRCA2 |
BRCA2, DNA repair associated |
13 |
q13.1 |
1 |
17 |
17 |
2021-12-06 |
BREAST CANCER, BROVCA2 |
| BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
17 |
q23.2 |
1 |
1 |
1 |
2018-12-07 |
BREAST CANCER |
| CDH1 |
cadherin 1 |
16 |
q22.1 |
1 |
2 |
2 |
2020-03-03 |
BREAST CANCER, GC |
| CEL |
carboxyl ester lipase |
9 |
q34.13 |
1 |
1 |
1 |
2020-10-08 |
MODY8 |
| CFTR |
cystic fibrosis transmembrane conductance regulator |
7 |
q31.2 |
1 |
3 |
3 |
2020-10-08 |
CF, PCTT |
| CHEK2 |
checkpoint kinase 2 |
22 |
q12.1 |
1 |
6 |
6 |
2020-03-03 |
BREAST CANCER |
| COL5A2 |
collagen type V alpha 2 chain |
2 |
q32.2 |
1 |
1 |
1 |
2022-06-29 |
EDSCL2 |
| CPA1 |
carboxypeptidase A1 |
7 |
q32.2 |
1 |
1 |
1 |
2018-01-25 |
- |
| CYP21A2 |
cytochrome P450 family 21 subfamily A member 2 |
6 |
p21.3 |
1 |
0 |
0 |
N/A |
CAH1 |
| ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
2 |
q14.3 |
1 |
2 |
2 |
2017-05-15 |
- |
| FANCA |
FA complementation group A |
16 |
q24.3 |
1 |
1 |
1 |
2020-03-03 |
FANCA |
| FANCM |
FA complementation group M |
14 |
q21.2 |
1 |
1 |
1 |
2018-12-07 |
BREAST CANCER |
| FBN1 |
fibrillin 1 |
15 |
q21.1 |
1 |
2 |
2 |
2022-02-07 |
MFS1 |
| FGFR3 |
fibroblast growth factor receptor 3 |
4 |
p16.3 |
1 |
0 |
0 |
N/A |
ACH, HCH |
| GCK |
glucokinase |
7 |
p15.3-p15.1 |
1 |
3 |
3 |
2020-10-08 |
MODY2 |
| GJB2 |
gap junction protein beta 2 |
13 |
q11-q12 |
1 |
0 |
0 |
N/A |
DFNB1A |
| GLA |
galactosidase alpha |
X |
q21.3-q22 |
1 |
0 |
0 |
N/A |
FD |
| HBA1 |
hemoglobin subunit alpha 1 |
16 |
p13.3 |
1 |
0 |
0 |
2016-07-11 |
a-THAL |
| HBA2 |
hemoglobin subunit alpha 2 |
16 |
p13.3 |
1 |
1 |
1 |
2017-05-24 |
a-THAL |
| HBB |
hemoglobin subunit beta |
11 |
p15.5 |
1 |
0 |
0 |
N/A |
b-THAL |
| HNF1A |
HNF1 homeobox A |
12 |
q24.31 |
1 |
5 |
5 |
2021-11-30 |
MODY3 |
| HNF1B |
HNF1 homeobox B |
17 |
q12 |
1 |
1 |
1 |
2019-05-21 |
MODY5 |
| HNF4A |
hepatocyte nuclear factor 4 alpha |
20 |
q13.12 |
1 |
2 |
2 |
2019-05-21 |
MODY1 |
| KRAS |
KRAS proto-oncogene, GTPase |
12 |
p12.1 |
2 |
2 |
1 |
2020-10-08 |
NS3 |
| LPIN2 |
lipin 2 |
18 |
p11.31 |
1 |
1 |
1 |
2021-02-05 |
MJDS |
| MECP2 |
methyl-CpG binding protein 2 |
X |
q28 |
1 |
0 |
0 |
N/A |
RTT |
| MEFV |
Mediterranean fever |
16 |
p13.3 |
1 |
0 |
0 |
N/A |
FMF |
| MET |
MET proto-oncogene, receptor tyrosine kinase |
7 |
q31 |
1 |
1 |
1 |
2018-12-07 |
HPRCC |
| MLH1 |
mutL homolog 1 |
3 |
p22.3 |
1 |
4 |
4 |
2021-06-15 |
HNPCC2 |
| MSH2 |
mutS homolog 2 |
2 |
p21 |
1 |
4 |
4 |
2022-02-14 |
HNPCC1 |
| MSH6 |
mutS homolog 6 |
2 |
p16 |
1 |
3 |
3 |
2020-03-03 |
HNPCC5 |
| MUTYH |
mutY DNA glycosylase |
1 |
p34.1 |
1 |
2 |
2 |
2020-03-03 |
FAP2 |
| NEUROD1 |
neuronal differentiation 1 |
2 |
q31.3 |
1 |
1 |
1 |
2019-05-21 |
MODY6 |
| NF1 |
neurofibromin 1 |
17 |
q11.2 |
1 |
7 |
6 |
2020-03-03 |
NF1 |
| NOD2 |
nucleotide binding oligomerization domain containing 2 |
16 |
q12.1 |
1 |
1 |
1 |
2020-10-08 |
BLAUS, YAOS |
| PALB2 |
partner and localizer of BRCA2 |
16 |
p12.2 |
1 |
3 |
3 |
2020-03-03 |
BREAST CANCER, FANCN, PNCA3 |
| PAX4 |
paired box 4 |
7 |
q32.1 |
1 |
0 |
0 |
N/A |
MODY 9 |
| PMS2 |
PMS1 homolog 2, mismatch repair system component |
7 |
p22.1 |
1 |
3 |
3 |
2020-10-08 |
HNPCC4 |
| PROC |
protein C, inactivator of coagulation factors Va and VIIIa |
2 |
q13-q14 |
1 |
1 |
1 |
2021-12-06 |
THPH3 |
| PROS1 |
protein S (alpha) |
3 |
q11.1 |
1 |
2 |
2 |
2022-09-06 |
THPH5 |
| PTCH1 |
patched 1 |
9 |
q22.32 |
1 |
1 |
1 |
2018-12-07 |
- |
| PTPN11 |
protein tyrosine phosphatase, non-receptor type 11 |
12 |
q24.1 |
1 |
0 |
0 |
N/A |
NS1 |
| RAD51C |
RAD51 paralog C |
17 |
q25.1 |
1 |
3 |
3 |
2018-12-07 |
BROVCA3 |
| RAD51D |
RAD51 paralog D |
17 |
q11 |
1 |
1 |
1 |
2017-05-15 |
BROVCA4 |
| SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
1 |
p36.13 |
1 |
1 |
1 |
2017-05-15 |
CWS2, GIST, PCZ, PGL4, PGSS |
| SHOX |
short stature homeobox |
X |
p22.33 and Yp11.32 |
1 |
0 |
0 |
N/A |
ISS |
| SPINK1 |
serine peptidase inhibitor, Kazal type 1 |
5 |
q32 |
1 |
0 |
0 |
2016-07-11 |
PCTT |
| STK11 |
serine/threonine kinase 11 |
19 |
p13.3 |
1 |
1 |
1 |
2019-02-21 |
PJS |
| TP53 |
tumor protein p53 |
17 |
p13.1 |
1 |
4 |
3 |
2018-12-07 |
BREAST CANCER, LFS1 |
|
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