1. Gene
  2. LRP5 - LDL receptor related protein 5 Gene

LRP5 - LDL receptor related protein 5 Gene

中文名称:LDL 受体相关蛋白 5

种属: Homo sapiens

同用名: HBM; LR3; OPS; EVR1; EVR4; LRP7; OPPG; BMND1; LRP-5; LRP-7; OPTA1; PCLD4; VBCH2

基因 ID: 4041 | 基因类型: protein coding

关于 LRP5

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,298,412-68,449,275 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues, 14 paralogues and is associated with 23 phenotypes. Ubiquitous expression in fat (RPKM 20.9), small intestine (RPKM 15.5) and 24 other tissues.

功能概要

该基因编码跨膜低密度脂蛋白受体,在受体介导的内吞作用过程中结合并内化配体。该蛋白还与 Frizzled 蛋白家族成员一起充当共同受体,用于通过 Wnt 蛋白转导信号,并且最初是基于其与人类 1 型糖尿病的关联而被克隆的。这种蛋白质在骨骼稳态中起着关键作用,许多与骨密度相关的疾病都是由这种基因突变引起的。该基因的突变也会导致家族性渗出性玻璃体视网膜病变。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

LRP5 基因产物(2)

mRNA Protein Name
NM_001291902.2 NP_001278831.1 low-density lipoprotein receptor-related protein 5 isoform 2
NM_002335.4 NP_002326.2 low-density lipoprotein receptor-related protein 5 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Wnt receptor activity IDA
IDA: 通过直接分析推断
24706814 GOA
enables Wnt-protein binding IPI
IPI: 通过物理相互作用推断
11336703 GOA
enables coreceptor activity IPI
IPI: 通过物理相互作用推断
11336703 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11336703 GOA
NOT enables toxin transmembrane transporter activity IMP
IMP: 通过突变表型推断
18350154 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Norrin signaling pathway IDA
IDA: 通过直接分析推断
15035989 GOA
involved in adipose tissue development IMP
IMP: 通过突变表型推断
17680723 GOA
involved in bone marrow development IMP
IMP: 通过突变表型推断
17680723 GOA
involved in bone morphogenesis IMP
IMP: 通过突变表型推断
19673927 GOA
involved in canonical Wnt signaling pathway IDA
IDA: 通过直接分析推断
11029007 GOA
involved in canonical Wnt signaling pathway IGI
IGI: 通过遗传相互作用推断
11336703 GOA
involved in canonical Wnt signaling pathway IMP
IMP: 通过突变表型推断
18044981 GOA
involved in cholesterol homeostasis IMP
IMP: 通过突变表型推断
18721193 GOA
involved in glucose catabolic process IMP
IMP: 通过突变表型推断
19673927 GOA
involved in negative regulation of osteoblast differentiation IMP
IMP: 通过突变表型推断
17680723 GOA
involved in negative regulation of protein serine/threonine kinase activity IMP
IMP: 通过突变表型推断
19107203 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
15035989 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
9790987 GOA
involved in positive regulation of fat cell differentiation IMP
IMP: 通过突变表型推断
17680723 GOA
involved in positive regulation of mesenchymal cell proliferation IMP
IMP: 通过突变表型推断
17680723 GOA
involved in positive regulation of mitotic nuclear division IDA
IDA: 通过直接分析推断
9790987 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
12857724 GOA
involved in regulation of blood pressure IMP
IMP: 通过突变表型推断
18721193 GOA
involved in retina morphogenesis in camera-type eye IMP
IMP: 通过突变表型推断
15346351 GOA
involved in retinal blood vessel morphogenesis IMP
IMP: 通过突变表型推断
15024691 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
17680723 GOA
part of receptor complex IDA
IDA: 通过直接分析推断
18762581 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

LRP5 蛋白结构

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (121 - 160)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (163 - 203)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (207 - 245)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (299 - 336)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (385 - 425)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (428 - 468)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (471 - 511)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (515 - 546)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (605 - 640)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (687 - 727)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (731 - 770)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (773 - 813)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (816 - 852)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (856 - 887)

FXa_inhibition

FXa_inhibition: Coagulation Factor Xa inhibitory site (906 - 941)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (1124 - 1162)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1257 - 1295)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1296 - 1332)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1336 - 1370)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1615 a.a.
蛋白主名 其他名称

low-density lipoprotein receptor-related protein 5

low density lipoprotein receptor-related protein 5

重组 LRP5 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77989 LRP-5 Protein, Human (HEK293, mFc) O75197 (E644-Q1263) ≥95%

关联疾病

疾病名称 别名
Osteoporosis-Pseudoglioma Syndrome

OPPG

Ops

Osteoporosis With Pseudoglioma

Osteogenesis Imperfecta, Ocular Form

Ocular Form Of Osteogenesis Imperfecta

Osteogenesis Imperfecta Ocular Form

Osteoporosis Pseudoglioma Syndrome

Pseudoglioma With Bone Fragility

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis

Worth Syndrome

Osteosclerosis, Autosomal Dominant

Hyperostosis, Endosteal

Endosteal Hyperostosis, Worth Type

Worth Disease

Autosomal Dominant Endosteal Hyperostosis

Autosomal Dominant Osteosclerosis, Worth Type

Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus

Autosomal Dominant Osteosclerosis

Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus

Worth'S Syndrome

Worth Type Autosomal Dominant Osteosclerosis

Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus

Osteosclerosis, Autosomal Dominant, Worth Type

WENHY

Endosteal Hyperostosis Autosomal Dominant

Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus

Osteosclerosis Autosomal Dominant

Acquired Osteosclerosis

Osteopetrosis, Autosomal Dominant 1

OPTA1

Autosomal Dominant Osteopetrosis 1

Autosomal Dominant Osteopetrosis Type 1

Osteopetrosis Autosomal Dominant Type 1

Osteopetrosis, Autosomal Dominant, Type I

Osteopetrosis, Autosomal Dominant, Type 1

Polycystic Liver Disease 4 With Or Without Kidney Cysts

PCLD4

Liver Disease, Polycystic, Type 4, With/Without Kidney Cysts

Exudative Vitreoretinopathy 4

EVR4

Vitreoretinopathy, Exudative 4

Vitreoretinopathy, Exudative, Type 4

Bone Mineral Density Quantitative Trait Locus 1

BMND1

High Bone Mass Trait

HBM

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity

Retrolental Fibroplasia

EVR1

Criswick-Schepens Syndrome

Rop

Exudative Vitreoretinopathy, Familial, Autosomal Dominant

Fevr, Autosomal Dominant

Premature Retinopathy

Vitreoretinopathy, Exudative 1

Autosomal Dominant Familial Exudative Vitreoretinopathy

Fevr

Vitreoretinopathy, Exudative, Type 1

Retinopathy Of Prematurity Nos

Rlf- [Retrolental Fibroplasia]

Rop - [Retinopathy Of Prematurity]

Terry Syndrome

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Lrp5-Related Primary Osteoporosis
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Van Buchem Disease

Hyperostosis Corticalis Generalisata

Hyperphosphatasemia Tarda

VBCH

Sost-Related Sclerosing Bone Dysplasia

Endosteal Hyperostosis Autosomal Recessive

Sclerosteosis

Endosteal Hyperostosis, Autosomal Recessive

Hyperotosis Corticalis Generalisata Familiaris

Sost Sclerosing Bone Dysplasia

Smith-Lemli-Opitz Syndrome

Brittle Bone Disorder

Osteogenesis Imperfecta

Brittle Bone Disease

Fragilitas Ossium

Osteopsathyrosis

Lobstein Disease

Oi

Vrolik Disease

Lobstein'S Disease

Lobstein'S Syndrome

Vrolik'S Disease

Porak And Durante Disease

Glass Bone Disease

Osteogenesis Imperfecta, Dominant Perinatal Lethal

Osteogenesis Imperfecta, Recessive Perinatal Lethal

Brittle Bone Syndrome

Oi - [Osteogenesis Imperfecta]

Ossium Fragility

Osteitis Fragilitans

Bony Fragility

Blue Sclera With Fragility Of Bone And Deafness

White Blue Sclera - Fragility Of Bone - Deafness

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

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Vitreoretinopathy
Van Buchem Disease Type 2

VBCH2

Osteosclerosis Of The Skull And Enlarged Mandible

Van Buchem Disease 2

Vitreoretinal Degeneration
Osteoporosis, Juvenile

Idiopathic Juvenile Osteoporosis

Idiopathic Osteoporosis

Juvenile Osteoporosis

Ijo

Sclerosteosis

Cortical Hyperostosis With Syndactyly

Sost

Cortical Hyperostosis-Syndactyly Syndrome

Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening

Norrie Disease

Atrophia Bulborum Hereditaria

Episkopi Blindness

Pseudoglioma

ND

Norrie-Warburg Disease

Anderson-Warburg Syndrome

Fetal Iritis Syndrome

Norrie Syndrome

Norrie-Warburg Syndrome

Ndp

Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

Norrie'S Disease

Oligophrenia Microphthalmus

Pseudoglioma Congenita

Whitnall-Norman Syndrome

Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Camurati-Engelmann Disease

Progressive Diaphyseal Dysplasia

Ced

Engelmann Disease

Diaphyseal Dysplasia 1, Progressive

Pdd

Diaphyseal Dysplasia

Dpd1

Camurati-Engelmann Syndrome

CAEND

Engelman'S Disease

Diaphyseal Hyperostosis

Diaphyseal Osteosclerosis

Mccune-Albright Syndrome

Mass Syndrome

Polyostotic Fibrous Dysplasia

MAS

Fibrous Dysplasia Of Bone

Albright Syndrome

Mass Phenotype

Overlap Connective Tissue Disease

Mccune Albright Syndrome

Osteitis Fibrosa Disseminata

OCTD

Albright'S Disease

Pfd

Pofd

Albright'S Syndrome

Mccune-Albright Syndrome, Somatic, Mosaic

Albright'S Disease Of Bone

Albright'S Syndrome With Precocious Puberty

Albright-Mccune-Sternberg Syndrome

Albright-Sternberg Syndrome

Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty

Gonadotropin-Independent Female-Limited Sexual Precocity

Fibrous Dysplasia Polyostotic

Fibrous Dysplasia, Polyostotic

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Osteonecrosis

Bone Necrosis

Avascular Necrosis Of Bone

Aseptic Necrosis

Necrosis Of Bone Nos

Aseptic Osteonecrosis

Aseptic Necrosis Of Bone, Site Unspecified

Aseptic Or Avascular Bone Necrosis

Aseptic Necrosis Of Bone

Necrotic Bone

Necrotizing Bone

Spontaneous Osteonecrosis

Osteoradionecrosis

Craniodiaphyseal Dysplasia

CDD

Schaefer Stein Oshman Syndrome

Craniodiaphyseal Dysplasia, Dominant

Dominantly Inherited Craniodiaphyseal Dysplasia

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]

Type 1 Diabetes Mellitus 4

Diabetes Mellitus, Insulin-Dependent, 4

Iddm4

Insulin-Dependent Diabetes Mellitus 4

T1D4

Insulin-Dependent Diabetes Mellitus-4

Craniodiaphyseal Dysplasia, Autosomal Dominant

CDD

Autosomal Dominant Craniodiaphyseal Dysplasia

Schaefer Stein Oshman Syndrome

Craniodiaphyseal Dysplasia Autosomal Dominant

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Diabetes Mellitus

Diabetes

Hypotrichosis Simplex

Hereditary Hypotrichosis Simplex

Hhs

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Sclerosteosis 2

SOST2

Sclerosteosis, Type 2

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

Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

Ectodermal Dysplasia 13, Hair/Tooth Type

ECTD13

Ectodermal Dysplasia 13

Hypotrichosis
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Osteopetrosis, Autosomal Dominant 2

OPTA2

Autosomal Dominant Osteopetrosis 2

Osteopetrosis Autosomal Dominant Type 2

Osteopetrosis, Autosomal Dominant, Type Ii

Albers-Schonberg Osteopetrosis

Autosomal Dominant Albers-Schonberg Disease

Osteopetrosis

Marble Bones, Autosomal Dominant

Osteosclerosis Fragilis Generalisata

Albers-Schonberg Disease, Autosomal Dominant

Autosomal Dominant Osteopetrosis Type Ii

Albers-Schönberg Osteopetrosis

Autosomal Dominant Osteopetrosis Type 2

Marble Disease Autosomal Dominant

Osteopetrosis, Autosomal Dominant, Type 2

Glucocorticoid-Induced Osteoporosis

Steroid-Induced Osteoporosis

Bone Resorption Disease

Bone Resorption

Slate Pneumoconiosis

Schistosis

Bone Remodeling Disease
Osteogenesis Imperfecta, Type Xv

Osteogenesis Imperfecta Type 15

OI15

Osteogenesis Imperfecta Type Xv

Oi, Type Xv

Osteogenesis Imperfecta 15

Oi Type Xv

Oi-Xv

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome

Persistent Hyperplastic Primary Vitreous

Congenital Retinal Detachment

Ncrna Disease

Non-Syndromic Congenital Retinal Non-Attachment

Pfvs

Phpv

Persistent Fetal Vasculature Syndrome

Leukocoria

Leucocoria

Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations

Robinow-Unger Syndrome

OSCS

Osteopathia Striata Cranial Sclerosis

Osteopathia Striata-Cranial Sclerosis Syndrome

Horan-Beighton Syndrome

Os-Cs

Osteopathia Striata - Cranial Sclerosis

Voorhoeve Disease

Osc

Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7

Cenani Syndactylism

Cenani-Lenz Syndactyly

CLSS

Syndactyly Cenani Lenz Type

Cenani-Lenz Syndrome

Syndactyly, Type Vii

Cenani-Lenz Type Syndactyly

Cenani Syndactyly

Syndactyly Type Vii

Retinal Telangiectasia
Dilated Cardiomyopathy 1t

Cmd1t

Cardiomyopathy, Dilated, 1t

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

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

Tetraamelia Syndrome

Tetra-Amelia Syndrome

Tetraamelia-Multiple Malformations Syndrome

Tetra-Amelia

Tetra-Amelia, Autosomal Recessive

Tetraamelia, Autosomal Recessive

Total Amelia

Zimmer Phocomelia

Tetams

Zimmer Taub Sova Syndrome

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

Retinitis Pigmentosa 7

Leber Congenital Amaurosis 18

RP7

Retinitis Pigmentosa 7, Digenic Form

Retinitis Pigmentosa 7 And Digenic Form

Retinitis Pigmentosa 7, Digenic

LCA18

Retinitis Pigmentosa 7 Digenic

Bone Development Disease
Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta LRP5 VGNC VGNC:101301
Rattus norvegicus LRP5 RGD RGD:1309329
Mus musculus LRP5 MGD MGI:1278315
Canis familiaris LRP5 VGNC VGNC:49918
Bos taurus LRP5 VGNC VGNC:97281
Felis catus LRP5 VGNC VGNC:97482
Others LRP5 NCBI