| Familial hyperthyroidism due to mutations in TSH receptor |
424 |
TSHR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Hyperthyroidism |
C0020550 |
TSHR
|
Causal
Pathogenic evidence from ClinVar
|
7800007, 8413627, 8964822 |
ClinVar |
|
AKT1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
AQP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12621104 |
- |
|
ARVCF
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
BTNL2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CACNA1S
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
CARTPT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12395121 |
- |
|
CAT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23391542 |
- |
|
COMT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
COX1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
COX2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
COX3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
FAM227B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30367059 |
- |
|
FOXP3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
GNAS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
GP1BB
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
GPX1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19914224 |
- |
|
GSR
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19914224 |
- |
|
HIRA
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
HLA-DRB1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
JMJD1C
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
KCNJ18
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
LINC00511
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30367059 |
- |
|
MICOS10
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30367059 |
- |
|
MSTO1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ND1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ND4
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ND5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ND6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
PDE10A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30367059 |
- |
|
PDE8B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30367059 |
- |
|
PIK3CA
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
POLG
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
POLG2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
POLR3A
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
PON1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
14678291 |
- |
|
PRDM11
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30367059 |
- |
|
PTCSC2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
30367059 |
- |
|
PTEN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
RREB1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
RRM2B
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Hyperthyroidism, Nonautoimmune |
C1836706 |
TSHR
|
Causal
Pathogenic evidence from ClinVar
|
7800007, 7920658, 8636266, 8964822, 9349581, 9360555, 9398746, 9589634, 10199795, 10852462, 11081252, 11127522, 11201847, 11517004, 11549687, 15163335, 23295291, 24947036 |
ClinVar |
| Primary Hyperthyroidism |
C3714618 |
TSHR
|
Causal
Pathogenic evidence from ClinVar
|
7800007, 8413627, 8964822 |
ClinVar |
|
AQP1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12621104 |
- |
|
CARTPT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12395121 |
- |
|
CAT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23391542 |
- |
|
GPX1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19914224 |
- |
|
GSR
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
19914224 |
- |
|
PON1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
14678291 |
- |