1. Gene
  2. HNF1B - HNF1 homeobox B Gene

HNF1B - HNF1 homeobox B Gene

Homo sapiens

Also known as T2D; FJHN; HNF2; LFB3; RCAD; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; ADTKD3; HNF-1B; HNF1beta; HNF-1-beta

Gene ID: 6928 | Gene type: protein coding

About HNF1B

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:37,686,431-37,745,059 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 220 orthologues, 1 paralogue and is associated with 12 phenotypes. Biased expression in kidney (RPKM 16.9), gall bladder (RPKM 7.3) and 11 other tissues.

Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of Cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

HNF1B Products(4)

mRNA Protein Name
NM_000458.4 NP_000449.1 hepatocyte nuclear factor 1-beta isoform 1
NM_001165923.4 NP_001159395.1 hepatocyte nuclear factor 1-beta isoform 2
NM_001304286.2 NP_001291215.1 hepatocyte nuclear factor 1-beta isoform 3
NM_001411100.1 NP_001398029.1 hepatocyte nuclear factor 1-beta isoform 4

HNF1B Protein Structure

HNF-1_N

HNF-1_N: Hepatocyte nuclear factor 1 (HNF-1), N terminus (1 - 182)

Homeobox

Homeobox: Homeobox domain (232 - 305)

HNF-1B_C

HNF-1B_C: Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus (314 - 551)

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  • 557 a.a.
Protein Preferred Names Protein Names

hepatocyte nuclear factor 1-beta

HNF1 beta A

Related Diseases

Diseases Alias
Renal Cysts And Diabetes Syndrome

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Hyperuricemic Nephropathy, Familial Juvenile, 3

HNFJ3

Hyperuricemic Nephropathy, Familial Juvenile Type 3

Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Adtkd-Hnf1b

Hnf1b-Mody

Hnf1b-Related Nephropathy

Mody5

Maturity-Onset Diabetes Of The Young Type 5

Rcad Syndrome

Renal Cysts And Diabetes Syndrome

Renal Dysfunction-Early-Onset Diabetes Syndrome

Unilateral Multicystic Dysplastic Kidney

Unilateral Mcdk

Unilateral Multicystic Renal Dysplasia

Bilateral Multicystic Dysplastic Kidney

Bilateral Mcdk

Bilateral Multicystic Renal Dysplasia

Bilateral Multicystic Dysplastic Kidneys

Multicystic Renal Dysplasia, Bilateral

Renal Dysplasia, Unilateral

Kidney Dysplasia, Unilateral

Renal Dysplasia, Bilateral

Kidney Dysplasia, Bilateral

Medullary Sponge Kidney

Cacchi-Ricci Disease

Msk

Precalicial Canalicular Ectasia

Cacchi Ricci Disease

Cacchi-Ricci Syndrome

Cystic Dilatation Of Renal Collecting Tubes

Precalyceal Canalicular Ectasia

Sponge Kidney

Congenital Cystic Kidney Disease

Msk - [Medullary Sponge Kidney]

Sponge Kidney Nos

Tubulointerstitial Kidney Disease, Autosomal Dominant, 2

Medullary Cystic Kidney Disease 1

Mckd1

Mckd

Medullary Cystic Kidney Disease Type 1

Autosomal Dominant Tubulointerstitial Kidney Disease

ADTKD2

Admckd1

Polycystic Kidneys, Medullary Type

Adtkd

Autosomal Dominant Medullary Cystic Kidney Disease

Adtkd-Muc1

Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Muci-Related Adtkd

Medullary Cystic Kidney Disease

Medullary Cystic Kidney Disease Type I

Medullary Cystic Kidney Disease, Autosomal Dominant

Autosomal Dominant Tubulointerstitial Kidney Disease Due To Muc1 Mutations

Adtkd Due To Muc1 Mutations

Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Associated

Muc1-Related Autosomal Dominant Medullary Cystic Kidney Disease

Mucin-1 Kidney Disease

Autosomal Dominant Interstitial Kidney Disease

Familial Juvenile Hyperuricemic Nephropathy

Muc1-Related Medullary Cystic Kidney Disease

Autosomal Dominant Medullary Cystic Kidney Disease 1

Medullary Polycystic Kidneys

Medullary Cystic Kidney Disease 1, Autosomal Dominant

Kidney Disease, Cystic, Medullary, Type 1

Nephronophthisis - Medullary Cystic Disease

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Prostate Cancer, Hereditary, 11

HPC11

Familial Prostate Cancer 11

Chromosome 17q12 Deletion Syndrome

17q12 Microdeletion Syndrome

Del(17)(Q12)

Monosomy 17q12

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Oligomeganephronia

Oligomeganephronic Renal Hypoplasia

Oligomeganephronic Hypoplasia Of Kidney

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Familial Juvenile Hyperuricemic Nephropathy

Mckd2

Familial Juvenile Hyperuricemic Nephropathy Type 1

Fjhn

Medullary Cystic Kidney Disease 2

Uromodulin-Associated Kidney Disease

Medullary Cystic Kidney Disease Type 2

ADTKD1

Hnfj1

Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

Adtkd-Umod

Familial Juvenile Hyperuricemic Nephropathy 1

Umod-Related Adtkd

Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Hyperuricemic Nephropathy, Familial Juvenile, 1

Gouty Nephropathy, Familial Juvenile

Medullary Cystic Kidney Disease 2, Autosomal Dominant

Admckd2

Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

Adtkd Due To Umod Mutations

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Autosomal Dominant Medullary Cystic Kidney Disease Type 2

Umod-Associated Kidney Disease

Uromodulin Kidney Disease

Familial Gout-Kidney Disease

Familial Gouty Nephropathy

Umak

Umod-Related Kidney Disease

Uromodulin Storage Disease

Fjhn1

Gouty Nephropathy Familial Juvenile

Nephropathy Familial With Gout

Hyperuricemic Nephropathy, Familial Juvenile 1

Hyperuricemic Nephropathy, Familial Juvenile

Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

Kidney Disease, Cystic, Medullary, Type 2

Medullary Cystic Kidney Disease Type Ii

Familial Juvenile Gout

Uterine Anomalies

Uterine Diseases

Uterine Disease

Uterine Abnormality

Prune Belly Syndrome

Eagle-Barrett Syndrome

Abdominal Muscle Deficiency Syndrome

PBS

Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism

Egbrs

Eagle-Barret Syndrome

Urethral Obstruction Sequence

Obrinsky Syndrome

Triad Syndrome

Obrisnksy Syndrome

Euos

Early Urethral Obstruction Sequence

Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction

Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism

Abdomen Muscle Deficiency Syndrome

Abdomen Muscular Deficiency Syndrome

Abdominal Muscular Deficiency Syndrome

Abdominal Muscle Aplasia Syndrome

Bicornuate Uterus

Uterus Bicornis

Uterus Biforis

Bifid Uterus

Diabetes Mellitus

Diabetes

Neonatal Diabetes

Neonatal Diabetes Mellitus

Diabetes Mellitus Syndrome In Newborn Infant

Ndm

Ovary Transitional Cell Carcinoma

Malignant Ovarian Transitional Cell Neoplasm

Ovarian Transitional Cell Cancer

Ovarian Transitional Cell Neoplasm

Transitional Cell Carcinoma Of Ovary

Ovarian Transitional Cell Carcinoma

Malignant Ovarian Transitional Cell Tumor

Ovarian Transitional Cell Tumor

Renal Glucosuria

Renal Glycosuria

Familial Renal Glucosuria

GLYS

Glys1

Glycosuria, Renal

Glucosuria, Renal

Renal Diabetes

Familial Renal Glycosuria

Sglt2 Deficiency

Gly

Diabetes Renal

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

Small Cell Carcinoma

Small Cell Carcinoma, Intermediate Cell

Intermediate Cell Small Cell Carcinoma

Small Cell Carcinoma - Intermediate Cell

Small Cell Carcinoma Of Lung

Carcinoma, Small Cell

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Maturity-Onset Diabetes Of The Young, Type 4

Maturity-Onset Diabetes Of The Young Type 4

MODY4

Mody, Type Iv

Mody Type 4

Mody, Type 4

Maturity-Onset Diabetes Of The Young 4

Mody-4

Diabetes Of The Young, Maturity-Onset, Type 4

Maturity-Onset Diabetes Of The Young, Type Iv

Ovarian Clear Cell Carcinoma

Clear-Cell Ovarian Carcinoma

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3

MODY3

Mody, Type Iii

Mody Type 3

Mody, Type 3

Maturity-Onset Diabetes Of The Young 3

Mody-3

Diabetes Of The Young, Maturity-Onset, Type 3

Maturity-Onset Diabetes Of The Young, Type 6

MODY6

Maturity-Onset Diabetes Of The Young Type 6

Maturity-Onset Diabetes Of The Young 6

Mody Type 6

Mody, Type 6

Mody-6

Diabetes Of The Young, Maturity-Onset, Type 6

Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1

MODY1

Mild Juvenile Diabetes Mellitus

Mody, Type I

Diabetes Mellitus Type 2

Mody Type 1

Mody, Type 1

Maturity-Onset Diabetes Of The Young 1

Mody-1

Diabetes Of The Young, Maturity-Onset, Type 1

Endometriosis

Endometriosis, Site Unspecified

Endometrial Ectopia

Cholestasis

Obstruction Of Bile Duct

Bile Duct Obstruction

Bile Occlusion

Extrahepatic Biliary Obstruction

Extrahepatic Bile Duct Obstruction

Bile Stasis

Biliary Stasis

Obstructive Hyperbilirubinemia

Obstructed Jaundice

Bile Duct Obstructed

Bile Ductal Obstruction

Biliary Duct Obstruction

Obstructed Bile Ductal

Obstructed Biliary Duct

Obstructed Biliary Ductal

Jaundice Regurgitation

Obstructive Jaundice

Cholestatic Jaundice

Cholestatic Jaundice Syndrome

Malignant Ciliary Body Melanoma

Malignant Melanoma Of Ciliary Body

Melanoma Of The Ciliary Body

Ciliary Body Cancer

Malignant Neoplasm Of Ciliary Body

Malignant Tumor Of Ciliary Body

Malignant Tumor Of The Ciliary Body

Neoplasm Of Ciliary Body

Tumor Of The Ciliary Body

Primary Malignant Neoplasm Of Ciliary Body

Malignant Neoplasm Of Eyeball

Malignant Neoplasm Of Uveal Tract

Primary Malignant Neoplasm Of Sclera

Primary Malignant Neoplasm Of Uveal Tract

Endometrial Clear Cell Adenocarcinoma

Clear Cell Carcinoma Of Endometrium

Cervical Endometrioid Adenocarcinoma

Endometrioid Carcinoma Of The Cervix Uteri

Polyhydramnios
Maturity-Onset Diabetes Of The Young, Type 2

Maturity-Onset Diabetes Of The Young Type 2

MODY2

Mody Glucokinase-Related

Mody Type 2

Mody, Type 2

Mody, Glucokinase-Related

Mody, Type Ii

Maturity-Onset Diabetes Of The Young 2

Mody-2

Diabetes Of The Young, Maturity-Onset, Type 2

Diabetes Mellitus Autosomal Dominant Type Ii

Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1

PCLD1

Cyst

Liver Disease, Polycystic, Type 1

Polycystic Liver Disease

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Pancreatic Agenesis

Partial Pancreatic Agenesis

Congenital Pancreatic Agenesis

Partial Agenesis Of The Pancreas

Agenesis, Pancreatic

Pancreatic Agenesis, Congenital

Oncocytoma

Oxyphilic Adenoma

Follicular Adenoma, Oxyphilic Cell

Adenoma, Oxyphilic

Hurthle Cell Tumor

Oncocytic Neoplasm

Ovarian Clear Cell Adenocarcinoma
Prediabetes Syndrome

Prediabetes

Impaired Glucose Tolerance

Prediabetic State

IGT

Igt - [Impaired Glucose Tolerance]

Impaired Glucose Tolerance With Unspecified Complication

Impaired Glucose Tolerance Without Complication

Abnormal Glucose Tolerance

Renal Hypoplasia
Wolfram Syndrome 1

WFS1

Didmoad

Wfs

Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome

Wolfram Syndrome

Endometrioid Ovary Carcinoma

Endometrioid Carcinoma Of Ovary

Endometrioid Carcinoma Ovary

Ovarian Endometrioid Carcinoma

Malignant Ovarian Endometrioid Tumor

Ovarian Endometrioid Tumor

Clear Cell Adenocarcinoma

Mesonephroma

Water-Clear Cell Adenocarcinoma

Adenocarcinoma, Clear Cell

Malignant Mesonephroma

Mesonephroid Clear Cell Carcinoma

Mesonephroma, Malignant

Water-Clear Cell Carcinoma

Wolffian Duct Neoplasm

Adenocarcinoma Clear Cell

Mesonephric Tumor

Krukenberg Carcinoma

Krukenberg Tumor

Krukenberg Neoplasm

Krukenberg'S Tumor

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome

BPES

Blepharophimosis Syndrome

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Bpes With Duane Retraction Syndrome

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2

Bpes Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus

3q23 Microdeletion Syndrome

Bpes Plus

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1

Bpes Type 1

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure

Blepharophimosis, Ptosis, Epicanthus Inversus

Autosomal Dominant Bpes Type I

Autosomal Recessive Bpes Type I

Bpes Type I

Bpes Type Ii

Bpes Without Ovarian Failure

Bpes With Ovarian Failure

Blepharophimosis Syndrome Type 1

Blepharophimosis Syndrome Type 2

Fallopian Tube Clear Cell Adenocarcinoma

Clear Cell Carcinoma Of The Fallopian Tube

Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies

Murcs Association

Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2

Mrkh Syndrome Type 2

Mayer-Rokitansky-Küster-Hauser Syndrome Type 2

MURCS

Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina

Atypical Mrkh Syndrome

Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome

Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii

Mrkh, Type Ii

Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia

Klippel-Feil Deformity - Conductive Deafness - Absent Vagina

Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia

Mayer-Rokitansky-Kuster-Hauser Syndrome

Mrkh Syndrome

Rokitansky Syndrome

Mullerian Aplasia

Mrkh Anomaly

Congenital Absence Of Uterus And Vagina

Congenital Absence Of The Uterus And Vagina

Genital Renal Ear Syndrome

Mayer-Rokitansky-Küster-Hauser Syndrome

Mullerian Dysgenesis

Müllerian Agenesis

Rokitansky Kuster Hauser Syndrome

MRKH

Mullerian Aplasia/Dysgenesis

Von Mayer-Rokitansky-Kuster Anomaly

Mrk Anomaly

Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida

Cauv

Mullerian Agenesis

Aplasia Of The Mullerian Ducts

Mullerian Duct Failure

Müllerian Aplasia

Rokitansky-Kuster-Hauser Syndrome

RKH SYNDROME

Maturity-Onset Diabetes Of The Young, Type 10

Maturity-Onset Diabetes Of The Young Type 10

MODY10

Maturity-Onset Diabetes Of The Young 10

Mody-10

Mody Type 10

Diabetes Of The Young, Maturity-Onset, Type 10

Papillorenal Syndrome

Renal Coloboma Syndrome

Coloboma Of Optic Nerve With Renal Disease

Renal-Coloboma Syndrome

Optic Nerve Coloboma With Renal Disease

Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies

Renal-Coloboma Syndrome With Macular Abnormalities

Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities

Cakut With Or Without Ocular Abnormalities

PAPRS

Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies

Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease

Coloboma-Ureteral-Renal Syndrome

Oncr

Optic Nerve Coloboma Renal Syndrome

Rcs

Papillo-Renal Syndrome

Optic Coloboma Vesicoureteral Reflux And Renal Anomalies

Caroli Disease

Caroli Disease Isolated

Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts

Cystic Dilatation Of The Intrahepatic Biliary Tree

Caroli Syndrome

Carolis Disease

Papillary Adenofibroma
Chromosome 17q12 Duplication Syndrome

17q12 Microduplication Syndrome

Trisomy 17q12

17q12 Duplication

17q12 Microduplication

Dup(17)(Q12)

Recurrent Duplication Of 17q12

17q12 Duplication Syndrome

17q12 Recurrent Duplication

Mucocele Of Appendix

Appendicele Mucocele

Appendicular Mucocele

Appendiceal Mucocele

Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1

Permanent Neonatal Diabetes Mellitus

Pndm

Permanent Diabetes Mellitus Of Infancy

Pdmi

Neonatal Diabetes Mellitus, Permanent

Serous Cystadenocarcinoma

Serous Adenocarcinoma

Cystadenocarcinoma, Serous

Serous Carcinoma

Cystadenocarcinoma Serous

Endometriosis Of Ovary

Ovarian Endometriosis

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Fallopian Tube Endometrioid Adenocarcinoma

Endometrioid Carcinoma Of The Fallopian Tube

Fallopian Tube Endometrioid Cancer

Fallopian Tube Endometrioid Neoplasm

Fallopian Tube Endometrioid Tumor

Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome

Bor Syndrome

Branchiootorenal Dysplasia

Melnick-Fraser Syndrome

Branchiootorenal Spectrum Disorders

Branchio-Otorenal Dysplasia

Branchio Oto Renal Syndrome

Branchiootorenal/Branchiootic Syndrome

Bo Syndrome

Bor

Bos

Branchio-Otorenal Syndrome

Branchiootic Syndrome

Branchiootorenal Syndrome

Branchiootic Syndrome 1

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris HNF1B VGNC VGNC:41724
Mus musculus HNF1B MGD MGI:98505
Bos taurus HNF1B VGNC VGNC:29890
Felis catus HNF1B VGNC VGNC:62826
Macaca mulatta HNF1B VGNC VGNC:73384
Rattus norvegicus HNF1B RGD RGD:3830