BBS4 - Bardet-Biedl syndrome 4 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 585

About BBS4

Cytogenetic location: 15q24.1 Genomic coordinates (GRCh38): 15:72,686,207-72,738,473 (from NCBI)

This gene has 18 transcripts (splice variants), 210 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.7), prostate (RPKM 9.9) and 25 other tissues.

Summary

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in Plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven Other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

BBS4 Products (3)

mRNA Protein Name
NM_001252678.2 NP_001239607.1 Bardet-Biedl syndrome 4 protein isoform 2
NM_001320665.2 NP_001307594.1 Bardet-Biedl syndrome 4 protein isoform 3
NM_033028.5 NP_149017.2 Bardet-Biedl syndrome 4 protein isoform 1
Molecular Function GO Annotation Evidence 参考文献 由来
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
22302990 GOA
enables alpha-tubulin binding IDA
IDA: Inferred from direct assay
17574030 GOA
enables beta-tubulin binding IDA
IDA: Inferred from direct assay
17574030 GOA
enables dynactin binding IDA
IDA: Inferred from direct assay
15107855 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15107855 GOA
enables protein-macromolecule adaptor activity IMP
IMP: Inferred from mutant phenotype
15107855 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in centrosome cycle IMP
IMP: Inferred from mutant phenotype
15107855 GOA
involved in maintenance of protein location in nucleus IGI
IGI: Inferred from genetic interaction
15107855 GOA
involved in microtubule anchoring at centrosome IMP
IMP: Inferred from mutant phenotype
15107855 GOA
involved in mitotic cytokinesis IMP
IMP: Inferred from mutant phenotype
15107855 GOA
involved in protein localization to centrosome IMP
IMP: Inferred from mutant phenotype
15107855 GOA
involved in protein localization to cilium IMP
IMP: Inferred from mutant phenotype
23943788 GOA
involved in regulation of cytokinesis IMP
IMP: Inferred from mutant phenotype
15107855 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
part of BBSome IDA
IDA: Inferred from direct assay
17574030 GOA
part of BBSome IPI
IPI: Inferred from physical interaction
19081074 GOA
located in centriolar satellite IDA
IDA: Inferred from direct assay
15107855 GOA
located in centriole IDA
IDA: Inferred from direct assay
15107855 GOA
located in centrosome IDA
IDA: Inferred from direct assay
14520415 GOA
located in ciliary basal body IDA
IDA: Inferred from direct assay
15107855 GOA
located in ciliary membrane IDA
IDA: Inferred from direct assay
17574030 GOA
located in ciliary transition zone IDA
IDA: Inferred from direct assay
23943788 GOA
located in cilium IDA
IDA: Inferred from direct assay
23943788 GOA
located in motile cilium IDA
IDA: Inferred from direct assay
18299575 GOA
located in non-motile cilium IDA
IDA: Inferred from direct assay
17574030 GOA
located in pericentriolar material IDA
IDA: Inferred from direct assay
15107855 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BBS4 Protein Structure

TPR_11

TPR_11: TPR repeat (100 - 165)

TPR_11

TPR_11: TPR repeat (170 - 233)

TPR_11

TPR_11: TPR repeat (272 - 335)

TPR_8

TPR_8: Tetratricopeptide repeat (339 - 371)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 519 a.a.
Protein Preferred Names Protein Names

Bardet-Biedl syndrome 4 protein

BBS4 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
BBS4 Q96RK4 REL Homo sapiens Q04864-2 26871637
Intra
BBS4 Q96RK4 REL Homo sapiens Q04864-2 26871637
Intra
BBS4 Q96RK4 REL Homo sapiens Q04864-2 26871637
Intra
BBS4 Q96RK4 PLP1 Homo sapiens P60201-2 32814053
Intra
BBS4 Q96RK4 PLP1 Homo sapiens P60201-2 32814053
Intra
BBS4 Q96RK4 PLP1 Homo sapiens P60201-2 32814053
Intra
BBS4 Q96RK4 BBS1 Homo sapiens Q8NFJ9
TAP
27173435
Intra
BBS4 Q96RK4 BBS1 Homo sapiens Q8NFJ9
TAP
19081074
Intra
BBS4 Q96RK4 BBS1 Homo sapiens Q8NFJ9 17574030
Intra
BBS4 Q96RK4 BBS1 Homo sapiens Q8NFJ9
TAP
17574030
Intra
BBS4 Q96RK4 IQCB1 Homo sapiens Q15051
IF
25552655
Intra
BBS4 Q96RK4 BBS9 Homo sapiens Q3SYG4
TAP
27173435
Intra
BBS4 Q96RK4 BBS9 Homo sapiens Q3SYG4
TAP
17574030
Intra
BBS4 Q96RK4 BBS9 Homo sapiens Q3SYG4
TAP
19081074
Intra
BBS4 Q96RK4 BBIP1 Homo sapiens A8MTZ0 29039417
Intra
BBS4 Q96RK4 BBIP1 Homo sapiens A8MTZ0
Y2H
29039417
Intra
BBS4 Q96RK4 BBIP1 Homo sapiens A8MTZ0
TAP
19081074
Intra
BBS4 Q96RK4 BBIP1 Homo sapiens A8MTZ0
IF
19081074
Intra
BBS4 Q96RK4 BBIP1 Homo sapiens A8MTZ0
GMS
19081074
Intra
BBS4 Q96RK4 MYOG Homo sapiens P15173 25416956
Intra
BBS4 Q96RK4 P4HB Homo sapiens P07237 32814053
Intra
BBS4 Q96RK4 P4HB Homo sapiens P07237 32814053
Intra
BBS4 Q96RK4 P4HB Homo sapiens P07237 32814053
Intra
BBS4 Q96RK4 EPAS1 Homo sapiens Q99814 18000879
Intra
BBS4 Q96RK4 DCTN1 Homo sapiens Q14203 15107855
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154 17574030
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154
TAP
17574030
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154 15107855
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154
TAP
19081074
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154 15107855
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154
Y2H
15107855
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154 22500027
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154
Y2H
18000879
Intra
BBS4 Q96RK4 PCM1 Homo sapiens Q15154 18772192
Cross: Cross-species interaction Intra: Intraspecies interaction

BBS4 抗体

製品番号 製品名 アプリケーション 反応性
HY-P810831 BBS4 Antibody (YA10074) WB Human, Mouse, Rat

関連疾患

Diseases Alias
Bardet-Biedl Syndrome 4
  • BBS4

  • Bardet-Biedl Syndrome, Type 4

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Polydactyly
  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits

Mckusick-Kaufman Syndrome
  • MKKS

  • Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation

  • Hmcs

  • Kaufman-Mckusick Syndrome

  • Hydrometrocolpos Syndrome

  • Hydrometrocolpos-Postaxial Polydactyly Syndrome

  • Kaufman Mckusick Syndrome

  • Mckusick Kaufman Syndrome

  • Mks

Developmental And Epileptic Encephalopathy 43
  • DEE43

  • Epileptic Encephalopathy, Early Infantile, 43

  • Eiee43

  • Developmental And Epileptic Encephalopathy, 43

  • Early Infantile Epileptic Encephalopathy 43

Bardet-Biedl Syndrome 18
  • BBS18

  • Bardet-Biedl Syndrome, Type 18

Simpson-Golabi-Behmel Syndrome, Type 2
  • Simpson-Golabi-Behmel Syndrome Type 2

  • SGBS2

  • Simpson-Golabi-Behmel Syndrome 2

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Bardet-Biedl Syndrome 11
  • BBS11

  • Bardet-Biedl Syndrome

  • Bbs

  • Bardet-Biedl Syndrome, Type 11

Night Blindness, Congenital Stationary, Autosomal Dominant 3
  • Congenital Stationary Night Blindness Autosomal Dominant 3

  • CSNBAD3

  • Night Blindness, Congenital Stationary, Nougaret Type

  • Nougaret Type Congenital Stationary Night Blindness

  • Congenital Stationary Night Blindness Nougaret Type

  • Hemeralopia Congenital Essential

  • Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3

Meckel Syndrome, Type 1
  • Meckel-Gruber Syndrome

  • Meckel Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Joubert Syndrome 26
  • JBTS26

Retinal Degeneration
  • Degeneration Of Retina

Bardet-Biedl Syndrome 6
  • BBS6

  • Bardet-Biedl Syndrome, Type 6

Bardet-Biedl Syndrome 19
  • BBS19

  • Bardet-Biedl Syndrome, Type 19

Orofaciodigital Syndrome I
  • OFD1

  • Orofaciodigital Syndrome 1

  • Oral-Facial-Digital Syndrome, Type I

  • Oral-Facial-Digital Syndrome 1

  • Ofds I

  • Papillon-Leage And Psaume Syndrome

  • Papillon-Leage-Psaume Syndrome

  • Oral-Facial-Digital Syndrome Type 1

  • Orofaciodigital Syndrome Type 1

  • Orofaciodigital Syndromes

  • Orofaciodigital Syndrome Type I

  • Oral-Facial-Digital Syndrome Type I

  • Ofd Syndrome 1

  • Ofds 1

  • Oral Facial Digital Syndrome 1

  • Oral Facial Digital Syndrome Type 1

  • Papillon-League-Psaume Syndrome

  • Ofdi

  • Ofdsi

  • Orofaciodigital Syndrome, Type I

Orofaciodigital Syndrome
  • Oral-Facial-Digital Syndrome

  • Orofaciodigital Syndromes

  • Ofd

  • Oral Facial Digital Syndromes

  • Oral-Facial-Digital Syndromes

  • Dysplasia Linguofacialis

  • Ofds

  • Oro-Facio-Digital Syndrome

  • Orodigitofacial Dysostosis

  • Orodigitofacial Syndrome

  • Oral Facial Digital Syndrome

  • Orofaciodigital Syndrome I

Bardet-Biedl Syndrome 10
  • BBS10

  • Bardet-Biedl Syndrome

  • Bbs

  • Bardet-Biedl Syndrome, Type 10

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Bardet-Biedl Syndrome 1
  • BBS1

  • Bardet-Biedl Syndrome 1, Modifier Of

  • Bardet-Biedl Syndrome

  • BBS

  • Bardet-Biedl Syndrome, Type 1

  • Laurence-Moon-Bardet-Biedl Syndrome

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 3

  • Saldino-Noonan Syndrome

  • SRTD3

  • Atd3

  • Srps1

  • Srps3

  • Verma-Naumoff Syndrome

  • Srps2b

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

  • Short Rib-Polydactyly Syndrome, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type Iii

  • Short Rib-Polydactyly Syndrome, Type Iib

  • Short Rib-Polydactyly Syndrome Type 3

  • Polydactyly With Neonatal Chondrodystrophy Type Iii

  • Short Rib-Polydactyly Syndrome Type Iii

  • Short Rib-Polydactyly Syndrome Type 1

  • Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

  • Majewski Syndrome

  • Short Rib-Polydactyly Syndrome, Type Iii

  • Type I Short Rib Polydactyly Syndrome

  • Srps Type 3

  • Short Rib Polydactyly Syndrome Verma Naumoff Type

  • Verma Naumoff Syndrome

  • Polydactyly With Neonatal Chondrodystrophy Type 1

  • Srps Type 1

  • Short Rib-Polydactyly Syndrome Saldino-Noonan Type

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 3

  • Polydactyly With Neonatal Chondrodystrophy Type I

  • Short Rib-Polydactyly Syndrome Type I

  • Short Rib-Polydactyly Syndrome Type Iib

  • Srps Type Iib

  • Srps Type Iii

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Acrocallosal Syndrome
  • ACLS

  • Schinzel Acrocallosal Syndrome

  • Joubert Syndrome 12

  • Schinzel Syndrome 1

  • Acrocallosal Syndrome, Schinzel Type

  • Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum

  • Acs

  • Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly

  • Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum

  • JBTS12

  • Acrocallosal Syndrome

Senior-Loken Syndrome 1
  • Senior-Loken Syndrome

  • Renal Dysplasia And Retinal Aplasia

  • Renal-Retinal Syndrome

  • Loken-Senior Syndrome

  • Juvenile Nephronophthisis With Leber Amaurosis

  • SLSN1

  • Senior-Loken Syndrome-1

  • Loken Senior Syndrome

  • Senior Loken Syndrome

  • Renal Dysplasia Retinal Aplasia

  • Nephronophthisis With Retinal Dystrophy

  • Renal Dysplasia-Retinal Aplasia Syndrome

  • Slsn

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

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

Cranioectodermal Dysplasia
  • Sensenbrenner Syndrome

  • Levin Syndrome 1

  • Ced

  • Levin Syndrome

  • Dysplasia, Cranioectodermal

Tetralogy Of Fallot
  • TOF

  • Fallot Tetralogy

  • Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

  • Tetrad Of Fallot

  • Fallot Tetrad

  • Fallot Disease

  • Fallot Complex

  • Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

  • Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

  • Interventricular Septal Defect, In Tetralogy Of Fallot

  • Ventricular Septal Defect With Obstructed Right Ventricular Outflow

  • Tof - [Tetralogy Of Fallot]

  • Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

  • Pulmonary Atresia, Ventricular Septal Defect And Mapcas

  • Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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

Cone Dystrophy
  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3

Eye Degenerative Disease
Asphyxiating Thoracic Dystrophy
  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Visceral Heterotaxy
  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome

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]

Situs Inversus
  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Primary Ciliary Dyskinesia
  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

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

生物種 Symbol 由来 ID
Mus musculus BBS4 MGD MGI:2143311
Rattus norvegicus BBS4 RGD RGD:1309134