To access more data, such as phenotypic and clinical characteristics of patients, contact us at canvas@rrp.demokritos.gr
CanVaS - A Greek Cancer Patient Genetic Variation Resource
HNF1A (HNF1 homeobox A)
LOVD v.3.0 Build 23 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Despoina Kalfakakou
View all genes
View HNF1A gene homepage
View graphs about the HNF1A gene database
View all transcripts
View all transcripts of gene HNF1A
View all genomic variants
View all variants affecting transcripts
View unique variants in gene HNF1A
View all variants in gene HNF1A
Full data view for gene HNF1A
View all individuals
View all individuals with variants in gene HNF1A
View all diseases
View all diseases associated with gene HNF1A
View all screenings
View all screenings for gene HNF1A
Submit new data
Select a disease to view all phenotype entries
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Inheritance
: Values based on OMIM's and HPO's values for inheritance.
AD
: Autosomal dominant
PI
: Autosomal dominant with paternal imprinting
MI
: Autosomal dominant with maternal imprinting
AR
: Autosomal recessive
DD
: Digenic dominant
DR
: Digenic recessive
IC
: Isolated Cases (Sporadic)
Mi
: Mitochondrial
Mu
: Multifactorial
SMo
: Somatic mosaicism
SMu
: Somatic mutation
OG
: Oligogenic (3 genes)
PG
: Polygenic (>3 genes)
XL
: X-linked
XLD
: X-linked dominant
XLR
: X-linked recessive
YL
: Y-linked
108 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
« First
Prev
1
2
Next
Last »
ID
Abbreviation
Name
OMIM ID
Inheritance
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00230
ADNM
Adenoma
-
-
20
26
-
-
-
00190
AGCa
Adrenal Gland Cancer
-
-
7
7
-
adrenal gland
-
00176
ALL
Acute Lymphoblastic Leukemia
613065
-
5
3
-
-
-
00033
AML
Acute Myeloid Leukemia
601626
-
5
5
CEBPA, GATA2, KIT, NSD1, RUNX1
bone marrow
-
00225
AoVCa
Ampulla of Vater cancer
-
-
2
2
-
-
-
00215
AppCa
Appendiceal cancer
-
-
3
3
-
-
-
00210
BBT
Benign brain tumor
-
-
24
27
-
-
-
00227
BKT
Benign kidney tumor
-
-
6
6
-
-
-
00180
BladCa
Bladder Cancer
109800
-
23
20
-
urinary bladder
-
00222
BloodCa
Blood Cancer
-
-
3
4
-
-
-
00249
BonMal
Bone malformation
-
-
1
1
-
-
-
00191
BrainCa
Brain Cancer
-
-
20
20
-
brain
-
00001
BrCa
Breast Cancer
114480
-
4048
4505
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NTHL1, PALB2, RAD51C, RAD51D, TP53
breast
-
00122
BROVCA3
Breast-ovarian cancer, familial, susceptibility to, 3
613399
-
0
15
RAD51C
-
-
00221
CAL
Café au Lait spots
-
-
21
22
-
-
-
00173
CC
Cervical cancer
603956
-
13
10
-
cervix, uterine
-
00203
CerPol
Cervical Polyps
-
-
1
1
-
-
-
00193
CHL
Classic Hodgkin's Lymphoma
236000
-
8
7
-
-
-
00196
CHLC
Cholangiocarcinoma
615619
-
1
1
-
-
-
00032
CMM2
Melanoma, cutaneous malignant, 2
155601
-
6
6
CDKN2A
skin
-
00027
CMM3
Melanoma, cutaneous malignant, 3
609048
-
19
20
CDK4
skin
-
00199
ColPol
Colon polyps
-
-
134
140
-
-
-
00153
CRC
Colorectal cancer
114500
-
231
239
TP53
-
-
00228
CS
Carcinosarcoma
-
-
1
1
-
-
-
00205
CUP
Cancer of Unknown Primary
-
-
6
5
-
-
-
00117
CWS1
Cowden syndrome 1
158350
-
6
6
PTEN
-
-
00250
DesCa
Desmoid Cancer
-
-
1
1
-
-
-
00174
DFS
Dermatofibrosarcoma protuberans
607907
-
1
1
-
skin
-
00242
DuoCa
Duodenal Cancer
-
-
4
4
-
-
-
00097
ENC
Endometrial cancer, familial
608089
-
102
101
MSH6
-
-
00182
ENDO
Endometriosis
131200
-
1
1
-
-
-
00204
EnPol
Endometrial polyps
-
-
20
13
-
-
-
00212
Epend
Ependymoma
-
-
1
1
-
-
-
00188
EsCa
Esophageal Cancer
133239
-
1
1
-
esophagus
-
00232
F
Fibromas
-
-
4
4
-
-
-
00061
FANCA
Fanconi anemia, complementation group A
227650
-
1
1
FANCA
-
-
00244
FibFol
Fibrofolliculomas
-
-
4
4
-
-
-
00186
FM-SR
Fibromyxoid Sarcoma
-
-
1
1
-
-
-
00202
GaPol
Gastric Polyps
-
-
20
14
-
-
-
00084
GIST
Gastrointestinal stromal tumor
606764
-
8
8
KIT, SDHB, SDHC
-
-
00015
GLM3
Glioblastoma 3
613029
-
7
7
BRCA2
-
-
00195
GynCa
Gynecological Cancer
-
-
1
1
-
cervix, uterine;ovary;vagina
-
00217
HepBl
Hepatoblastoma
-
-
1
1
-
-
-
00235
HIR
Hirschsprung's
-
-
2
2
-
-
-
00247
HMGM
Hemangioma
-
-
12
13
-
-
-
00192
HNSCC
Head and Neck Cancer
275355
-
8
8
-
nasopharynx
-
00240
HypPT
Hyperparathyroidism
-
-
16
16
-
-
-
00237
JK
Jaw keratocysts
-
-
1
1
-
-
-
00183
LeioM
Leiomyosarcoma
-
-
3
2
-
-
-
00259
Les
Lesions
-
-
1
1
-
-
-
00219
LiCa
Liver Cancer
-
-
2
2
-
-
-
00233
LM
Leiomyoma
-
-
1
1
-
-
-
00185
LPSRCM
Liposarcoma
613488
-
2
2
-
-
-
00044
LuCa
Lung Cancer
211980
-
21
19
EGFR
lung
-
00252
LunLes
Lung lesions
-
-
5
5
-
-
-
00216
LymphoSRCM
Lymphosarcoma
-
-
1
1
-
-
-
00016
MDB
Medulloblastoma
155255
-
5
5
BRCA2, SUFU
-
-
00248
MenDis
Menetrier disease
-
-
1
1
-
-
-
00206
MF
Myelofibrosis
254450
-
2
1
-
-
-
00172
MM
Multiple Myeloma
254500
-
2
2
-
-
-
00209
MNGM
Meningioma
-
-
13
15
-
-
-
00031
MPCS
Pancreatic cancer/melanoma syndrome
606719
-
0
2
CDKN2A
pancreas;skin
-
00194
MXM
Myxoma
-
-
1
1
-
-
-
00223
NDL
Nodules
-
-
14
14
-
-
-
00226
NF
Neurofibromas
-
-
14
14
-
-
-
00101
NF1
Neurofibromatosis, type 1
162200
-
1
2
NF1
-
-
00110
NHL
Lymphoma, non-Hodgkin
605027
-
14
12
PRF1
-
-
00236
OBT
Other benign tumor
-
-
24
25
-
-
-
00238
OC
Osteochondroma
-
-
1
1
-
-
-
00155
OSRC
Osteosarcoma
259500
-
7
6
TP53
-
-
00171
OVCA
Ovarian Cancer
167000
-
1019
1003
SMARCA4
ovary
-
00175
OvTer
Ovarian Teratoma
166950
-
2
2
-
ovary
-
00147
PANCA
Pancreatic cancer
260350
-
17
17
STK11
-
-
00239
PanLes
Pancreatic lesions
-
-
10
10
-
-
-
00218
PCV
Polycythemia vera
-
-
1
1
-
-
-
00246
PD
Poikiloderma
-
-
1
1
-
-
-
00231
PerCa
Peritoneal cancer
-
-
2
2
-
-
-
00181
PFTC
Fallopian Tube Cancer
-
-
1
1
-
fallopian tube
-
00135
PGL2
Paragangliomas 2
601650
-
12
12
SDHAF2, SDHB
-
-
00136
PGL4
Paragangliomas 4
115310
-
2
3
SDHB
-
-
00087
Pheo
Pheochromocytoma, susceptibility to
171300
-
23
23
MAX, RET, SDHB, SDHD, TMEM127, VHL
-
-
00148
PJS
Peutz-Jeghers syndrome
175200
-
15
3
STK11
-
-
00017
PNCA2
Pancreatic cancer 2
613347
-
141
138
BRCA2
pancreas
-
00214
Polyposis
Polyposis
-
-
135
144
-
-
-
00040
PPB
Pleuropulmonary blastoma
601200
-
1
1
DICER1
lung
-
00018
PrCa
Prostate cancer
176807
-
60
52
BRCA2, CDH1, CHEK2
prostate
-
00075
PSP
Pneumothorax, primary spontaneous
173600
-
1
1
FLCN
-
-
00124
RB1
Retinoblastoma
180200
-
1
1
RB1
eyes
-
00080
RCC
Renal cell carcinoma
144700
-
58
60
HNF1A
kidney
-
00251
RenLes
Kidney lesions
-
-
12
15
-
-
-
00041
RMSE2
Rhabdomyosarcoma, embryonal, 2
180295
-
2
2
DICER1
-
-
00213
RMSRCM
Rhabdomyosarcoma
-
-
2
3
-
-
-
00211
Schw
Schwannoma
-
-
5
7
-
-
-
00224
SCT
Spinal cord tumor
-
-
6
6
-
-
-
00177
SIC
Small Intestine Cancer
-
-
10
9
-
small intestine
-
00179
SIPol
Small Intestine Polyps
-
-
15
2
-
-
-
00178
SkCa
Skin Cancer
-
-
17
16
-
skin
-
00243
SponPneum
Spontaneous Pneumothorax
-
-
1
1
-
-
-
00184
SRCM
Sarcoma
-
-
7
7
-
-
-
00220
TestCa
Testicular cancer
-
-
1
1
-
-
-
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
« First
Prev
1
2
Next
Last »
Powered by
LOVD v.3.0
Build 23
LOVD software ©2004-2020
Leiden University Medical Center