1. Gene
  2. GLA - galactosidase alpha Gene

GLA - galactosidase alpha Gene

中文名称:半乳糖苷酶α

种属: Homo sapiens

同用名: GALA

基因 ID: 2717 | 基因类型: protein coding

关于 GLA

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,397,803-101,407,925 (from NCBI)

This gene has 16 transcripts (splice variants), 197 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 16.8), placenta (RPKM 14.4) and 25 other tissues.

功能概要

该基因编码一种同型二聚体糖蛋白,可水解糖脂和糖蛋白中的末端 α-半乳糖基部分。这种酶主要水解神经酰胺三己糖苷,它可以催化蜜二糖水解成半乳糖和葡萄糖。该基因的各种突变会影响该酶的合成、加工和稳定性,从而导致法布里病,这是一种罕见的溶酶体贮积症,由无法分解代谢 α-D-半乳糖糖脂部分引起。[RefSeq 提供,2008 年 7 月]

This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This Enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this Enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]

GLA 基因产物(4)

mRNA Protein Name
NM_000169.3 NP_000160.1 alpha-galactosidase A isoform b precursor
NM_001406747.1 NP_001393676.1 alpha-galactosidase A isoform a precursor
NM_001406748.1 NP_001393677.1 alpha-galactosidase A isoform c precursor
NM_001406749.1 NP_001393678.1 alpha-galactosidase A isoform d 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 alpha-galactosidase activity IDA
IDA: 通过直接分析推断
39940 GOA
enables alpha-galactosidase activity IMP
IMP: 通过突变表型推断
10838196 GOA
enables catalytic activity IDA
IDA: 通过直接分析推断
39940 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
1332979 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
6256390 GOA
enables signaling receptor binding IDA
IDA: 通过直接分析推断
1332979 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycosphingolipid catabolic process IDA
IDA: 通过直接分析推断
8804427 GOA
involved in glycosphingolipid catabolic process IMP
IMP: 通过突变表型推断
10838196 GOA
involved in oligosaccharide metabolic process IDA
IDA: 通过直接分析推断
39940 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IMP
IMP: 通过突变表型推断
1332979 GOA
located in cytoplasm IMP
IMP: 通过突变表型推断
1332979 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
3029062 GOA
located in extracellular region IMP
IMP: 通过突变表型推断
1332979 GOA
located in lysosome IMP
IMP: 通过突变表型推断
1332979 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

GLA 蛋白结构

Melibiase

Melibiase: Melibiase (40 - 146)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 429 a.a.
蛋白主名 其他名称

alpha-galactosidase A

agalsidase alfa

GLA 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
GLA P06280 ALG11 Homo sapiens Q2TAA5
Anti Tag CoIP
33961781
种属内
GLA P06280 SORT1 Homo sapiens Q99523
Pull Down
21949853
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GLA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7492 Alpha-Galactosidase A Protein, Human (HEK293, His) P06280 (L32-L429) ≥95%

关联疾病

疾病名称 别名
Fabry Disease

Alpha-Galactosidase A Deficiency

Anderson-Fabry Disease

Angiokeratoma Corporis Diffusum

Ceramide Trihexosidase Deficiency

Fabry Disease, Cardiac Variant

Fabry'S Disease

Hereditary Dystopic Lipidosis

Gla Deficiency

FD

Alpha Galactosidase Deficiency

Deficiency Of Melibiase

Angiokeratoma, Diffuse

Angiokeratoma Diffuse

Diffuse Angiokeratoma

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Angiokeratoma

Angiokeratoma Of Skin

Cutaneous Angiokeratoma

Skin Angiokeratoma

Skin Hemangioma

Angioma Of The Skin

Angiomatous Naevus Of Skin

Hemangioma Of Skin

Sphingolipidosis

Sphingolipidoses

Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis

Sweat Gland Disease

Sweat Gland Diseases

Angiokeratoma Of Mibelli
Gm1 Gangliosidosis

Beta-Galactosidase Deficiency

Gangliosidosis Gm1

Deficiency Of Beta-Galactosidase

Beta Galactosidase 1 Deficiency

Beta-Galactosidosis

Glb 1 Deficiency

Beta-Galactosidase-1 Deficiency

Beta-Galactosidase-1 Deficiency

Glb1 Deficiency

Landing Disease

Gangliosidosis, Gm1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency

Naga Deficiency

Alpha-Galactosidase B Deficiency

Alpha-Galnac Deficiency, Schindler Type

Alpha-Naga Deficiency

Angiokeratoma Corporis Diffusum-Glycopeptiduria

Galb Deficiency

Kanzaki Disease

Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum

Neuroaxonal Dystrophy, Schindler Type

Neuronal Axonal Dystrophy, Schindler Type

Schindler Disease, Type I

Schindler Disease, Type Ii

Tay-Sachs Disease

Hexosaminidase A Deficiency

TSD

Hexa Deficiency

Gm2 Gangliosidosis, Type 1

Hexosaminidase Alpha-Subunit Deficiency

Gm2-Gangliosidosis, Several Forms

Gm2-Gangliosidosis, B, B1, Ab Variant

B Variant Gm2 Gangliosidosis

Sphingolipidosis, Tay-Sachs

Gm2-Gangliosidosis, Type I

B Variant Gm2-Gangliosidosis

Hex A Pseudodeficiency

Hexa Disorders

Beta-Hexosaminidase A Deficiency

Gm2 Gangliosidosis, Type I

Gangliosidosis Gm2 , Type 1

Gm2 Gangliosidosis, B, B1 Variant

Gm2-Gangliosidosis 1

GM2G1

Gm2-Gangliosidosis B Variant

Tay-Sachs Disease Pseudo-Ab Variant

Tay-Sachs Disease Variant B1

Gangliosidoses, Gm2

Keutel Syndrome

KTLS

Pulmonic Stenosis, Brachytelephalangism, And Calcification Of Cartilages

Pulmonic Stenosis Brachytelephalangism And Calcification Of Cartilages

Pulmonic Stenosis-Brachytelephalangism-Calcification Of Cartilages Syndrome

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Cardiovascular Organ Benign Neoplasm
Angiokeratoma Of Fordyce

Fordyce Angiokeratoma

Fordyce'S Spot

Fordyce-Type Angiokeratoma Of Scrotum

Erythromelalgia

Primary Erythromelalgia

Erythermalgia

Primary Erythermalgia

Mitchell Disease

Familial Erythromelalgia

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency

MLD

Arsa Deficiency

Sulfatide Lipidosis

Metachromatic Leukoencephalopathy

Cerebral Sclerosis, Diffuse, Metachromatic Form

Cerebroside Sulfatase Deficiency

Leukodystrophy, Metachromatic

Pseudoarylsulfatase A Deficiency

Leukodystrophy Metachromatic

Sulfatidosis

Metachromatic Leukodystrophy, Late Infantile

Metachromatic Leukodystrophy Variant

Deficiency Of Cerebroside-Sulfatase

Scholz Cerebral Sclerosis

Sulfatide Lipoidosis

Cerebral Sclerosis Diffuse Metachromatic Form

Arylsulfatase A Deficiency Disease

Cerebroside Sulphatase Deficiency Disease

Greenfield Disease

Metachromatic Leukodystrophy, Adult

Metachromatic Leukodystrophy, Juvenile

Leukodystrophy Metachromatic Adult

Leukodystrophy Metachromatic Juvenile

Leukodystrophy Metachromatic Late Infantile

Metachromatic Leukodystrophy, Adult Type

Metachromatic Leukodystrophy, Juvenile Type

Metachromatic Leukodystrophy, Infant

Greenfield'S Disease

Scheie Syndrome

Mucopolysaccharidosis Type Is

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis Type I

Mucopolysaccharidosis I

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis Is

Mucopolysaccharidosis Type 1s

Mucopolysaccharidosis Type V

Hurler Syndrome

Idua Deficiency

Mps I

MPS1S

Mps1-S

Mucopolysaccharidosis Type V, Formerly

Mps V, Formerly

Mps5, Formerly

Lipochondrodystrophy

Mpsis

Mucopolysaccharidosis, Type I

Iduronidase Deficiency Disease

Mps I - Hurler Syndrome

Mucopolysaccharidosis, Mps-I

Mucopolysaccharidosis, Type 1

Attenuated Mps I

Mps 1

Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)

Severe Mps I

Mps I H

Mps I H-S

Mps I S

Mps1

Mpsi

Mucopolysaccharidosis 1s

Mps Is

Mps-Is

Mps V

Mucopolysaccharidosis V

Pfaundler-Hurler Syndrome

L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Mps1 - [Mucopolysaccharidosis Type 1]

Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Angiokeratoma Circumscriptum
Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Congenital Disorder Of Glycosylation, Type Ib

CDG1B

Cdg Ib

Cdgib

Mannosephosphate Isomerase Deficiency

Mpi Deficiency

Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome

Saguenay-Lac Saint-Jean Syndrome

Slsj Syndrome

Congenital Disorder Of Glycosylation Ib

Congenital Disorder Of Glycosylation 1b

Mpi-Cdg

Cdg-Ib

Congenital Disorder Of Glycosylation Type 1b

Congenital Disorder Of Glycosylation Type Ib

Cdg, Gastrointestinal Type

Cdg Syndrome Type Ib

Carbohydrate Deficient Glycoprotein Syndrome Type Ib

Phosphomannose Isomerase Deficiency

Carbohydrate-Deficient Glycoprotein Syndrome Type Ib

Cdg Gastrointestinal Type

Cdgs1b

Glycosylation, Congenital Disorder Of, Type Ib

Pompholyx

Dyshidrosis

Vesicular Eczema Of Hands And/Or Feet

Cheiropompholyx

Dyshydrotic Eczema

Eczema, Dyshidrotic

Vesicular Hand Eczema

Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2

Naga Deficiency Type 2

Schindler Disease, Type Ii

Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency

Schindler Disease Type 2

Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset

Naga Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset

KANZD

Naga Deficiency Type Ii

Schindler Disease Type Ii

Skin Benign Neoplasm

Neoplasm Of Skin By Site

Tumor Of The Skin

Skin Tumor

Benign Neoplasm Of Skin

Skin Neoplasms

Corneal Deposit

Deposits - Cornea

Krabbe Disease

Globoid Cell Leukodystrophy

Galactosylceramide Beta-Galactosidase Deficiency

Galc Deficiency

Galactocerebrosidase Deficiency

GLD

Globoid Cell Leukoencephalopathy

Diffuse Globoid Body Sclerosis

Gcl

Leukodystrophy, Globoid Cell

Krabbe'S Leukodystrophy

Krabbe Leukodystrophy

KRB

Beta Galactocerebrosidase Deficiency

Krabbe'S Disease

Galactosylceramidase Deficiency Disease

Galactosylceramide Lipidosis

Galactosylcerebrosidase Deficiency

Galactosylsphingosine Lipidosis

Psychosine Lipidosis

Galactosylceramidase Deficiency

Infantile Globoid Cell Leukodystrophy

Krabbe Brain Sclerosis

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

Farber Lipogranulomatosis

Farber Disease

Acid Ceramidase Deficiency

Ceramidase Deficiency

Ac Deficiency

N-Laurylsphingosine Deacylase Deficiency

Farber'S Disease

FRBRL

Farber'S Lipogranulomatosis

Acylsphingosine Deacylase Deficiency

Farber-Uzman Syndrome

Acy

Mucopolysaccharidosis, Type Ii

Hunter Syndrome

Iduronate 2-Sulfatase Deficiency

Mucopolysaccharidosis Ii

Mps Ii

Mucopolysaccharidosis Type Ii

MPS2

Sulfoiduronate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Ii

Ids Deficiency

Sids Deficiency

I2s Deficiency

Mucopolysaccharidosis Type 2

Mucopolysaccharidosis Type 2, Severe Form

Deficiency Of Iduronate-2-Sulphatase

Hunter'S Syndrome

Mps Ii - Hunter Syndrome

Iduronate-2-Sulfatase Deficiency

Attenuated Mps

Mps 2

Severe Mps Ii

Mpsii

Mucopolysaccharidosis Type 2, Attenuated Form

Hunter Syndrome Type B

Iduronate 2-Sulfatase Deficiency Type B

Mps2b

Mpsiib

Mucopolysaccharidosis Type 2b

Mucopolysaccharidosis Type Ii, Attenuated Form

Mucopolysaccharidosis Type Iib

Hunter Syndrome Type A

Iduronate 2-Sulfatase Deficiency Type A

Mps2a

Mpsiia

Mucopolysaccharidosis Type 2a

Mucopolysaccharidosis Type Ii, Severe Form

Mucopolysaccharidosis Type Iia

Mucopolysaccharidosis 2

Hunters Syndrome

Iduronate 2-Sulphatase Deficiency

Iduronate Sulfatase Deficiency

Iduronate Sulphatase Deficiency

Sulfo-Iduronate Sulfatase Deficiency

Sulfoiduronidate Sulfatase Deficiency

Sulpho-Iduronate Sulphatase Deficiency

Sulphoiduronidate Sulphatase Deficiency

Mps2 - [Mucopolysaccharidosis 2]

Gaucher Disease, Perinatal Lethal

Gaucher Disease Perinatal Lethal

Gaucher Disease, Collodion Type

Gaucher'S Disease Perinatal Lethal

Fetal Gaucher Disease

Perinatal Lethal Gaucher Disease

Gaucher Disease Collodion Type

Gaucher Disease, Perinatal-Lethal Form

GDPL

Sandhoff Disease

Total Hexosaminidase Deficiency

Hexosaminidases A And B Deficiency

Sandhoff Disease, Infantile, Juvenile, And Adult Forms

Beta-Hexosaminidase-Beta-Subunit Deficiency

Gm2 Gangliosidosis, Type 2

Hexosaminidase A And B Deficiency Disease

Sandhoff-Jatzkewitz-Pilz Disease

Gm2 Gangliosidosis, Type Ii

Sandhoff Disease, Infantile Form

Sandhoff Disease, Adult Form

Sandhoff Disease, Juvenile Form

Gm2-Gangliosidosis, Type Ii

Sandhoff Jatzkewitz Disease

Type Ii Gm2 Gangliosidosis

Gm2 Gangliosidosis, 0 Variant

Gm2 Gangliosidosis 0 Variant

Hexosaminidases A And B Deficiency, Infantile Form

Infantile Gm2 Gangliosidosis 0 Variant

Adult Gm2 Gangliosidosis 0 Variant

Hexosaminidases A And B Deficiency, Adult Form

Hexosaminidases A And B Deficiency, Juvenile Form

Juvenile Gm2 Gangliosidosis 0 Variant

Gm2-Gangliosidosis 2

GM2G2

Hexosaminidase A And B Deficiency

Sd

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis

Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

MPSPS

Mucopolysaccharidoses

Mps

Mucopolysaccharidosis-Like Plus Disease

Disorders Of Glycosaminoglycan Metabolism

Danon Disease

Pseudoglycogenosis Ii

Antopol Disease

Glycogen Storage Disease Iib

Glycogen Storage Disease Type 2b

Glycogen Storage Disease Type Iib

Gsd2b

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

Vacuolar Cardiomyopathy And Myopathy X-Linked

Vacuolar Cardiomyopathy And Myopathy, X-Linked

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

Gsd2b, Formerly

Gsd Iib, Formerly

Glycogen Storage Cardiomyopathy

Glycogen Storage Disease Limited To The Heart

Pseudoglycogenosis 2

X-Linked Vacuolar Cardiomyopathy And Myopathy

Lysosomal Glycogen Storage Disease With Normal Acid Maltase

Glycogen Storage Disease Due To Lamp-2 Deficiency

Gsd Due To Lamp-2 Deficiency

Glycogenosis Due To Lamp-2 Deficiency

Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

DAND

Gsd-Iib

Gangliosidosis

Gangliosidoses

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Mucopolysaccharidosis, Type Vi

Maroteaux-Lamy Syndrome

Arylsulfatase B Deficiency

Mucopolysaccharidosis Type Vi

Mps Vi

Mucopolysaccharidosis Vi

Mucopolysaccharidosis Type 6

MPS6

Arsb Deficiency

N-Acetylgalactosamine-4-Sulfatase Deficiency

Mucopolysaccharidosis 6

N-Acetylgalactosamine 4-Sulfatase Deficiency

Deficiency Of N-Acetylgalactosamine-4-Sulfatase

Maroteaux - Lamy Syndrome

Mps Vi - Maroteaux-Lamy Syndrome

Mps 6

Maroteaux Lamy Syndrome

Mucopoly-Saccharidosis Type Vi

Polydystrophic Dwarfism

Asb Deficiency

Mpsvi

Maroteaux-Lamy Disease

Arsb - [Arylsulfatase B] Deficiency

Mucopolysaccharidosis, Type Ivb

Mucopolysaccharidosis Type Ivb

Mps Ivb

MPS4B

Morquio Syndrome B

Beta-D-Galactosidase Deficiency

Morquio Disease Type B

Mps 4b

Mucopolysaccharidosis Type 4b

Mpsivb

Morquio Disease, Type B

Mucopolysaccharidosis Type Iv-B

Mucopolysaccharidosis 4b

Morquio'S Syndrome B

Mps-Ivb

Mucopolysaccharidosis, Type Iva

Mps Iva

Galns Deficiency

MPS4A

Morquio A Disease

Galactosamine-6-Sulfatase Deficiency

Morquio Syndrome A

Mucopolysaccharidosis Iva

Mucopolysaccharidosis Type Iva

Mpsiva

Morquio Disease Type A

Mucopolysaccharidosis Type 4a

N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

Morquio Syndrome Type A

Mps 4a

Morquio Disease, Type A

Mucopolysaccharidosis 4a

Morquio'S Syndrome A

Mps Iv A

Mucopolysaccharidosis Iv

Mucopolysaccharidosis, Mps-Iv-A

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

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases

Amyloidosis, Hereditary, Transthyretin-Related

Transthyretin Amyloidosis

Familial Amyloid Polyneuropathy

Ttr Amyloid Neuropathy

Transthyretin Amyloid Neuropathy

Transthyretin Amyloid Polyneuropathy

Fap

Familial Transthyretin Amyloidosis

Amyloidosis Transthyretin Related

Type I Familial Amyloid Polyneuropathy

Familial Amyloid Polyneuropathy Type I

Attrv122i Amyloidosis

Hereditary Amyloidosis, Transthyretin-Related

Amyloid Polyneuropathy, Familial

Attr Amyloidosis

Attrm Amyloidosis

Corino De Andrade'S Disease

Paramyloidosis

Transthyretin-Related Hereditary Amyloidosis

Ttr Amyloidosis

Hereditary Attr Amyloidosis

Portuguese Polyneuritic Amyloidosis

Portuguese Type Familial Amyloid Neuropathy

Swiss Type Amyloid Polyneuropathy

Type Ii Familial Amyloid Polyneuropathy

Attrv30m Amyloidosis

Attrv30m-Related Amyloidosis

Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type

Attr Cardiomyopathy

Attrv122i-Related Amyloidosis

Ttr-Related Amyloid Cardiomyopathy

Ttr-Related Cardiac Amyloidosis

Transthyretin Amyloid Cardiopathy

Transthyretin-Related Familial Amyloid Cardiomyopathy

Amyloidosis, Transthyretin-Related

AMYL-TTR

Amyloidosis I

Amyloidosis Ohio Type

Amyloidosis Type 7

Amyloidosis Vii

Amyloid Polyneuropathy

Attr

Familial Amyloid Polyneuropathy Type Ii

Hereditary Amyloidosis Transthyretin-Related

Leptomeningeal Amyloidosis

Meningocerebrovascular Amyloidosis

Oculoleptomeningeal Amyloidosis

Familial Amyloid Polyneuropathies

Amyloidosis, Leptomeningeal

Senile Cardiac Amyloidosis

Amyloid Neuropathies, Familial

Danish Type Familial Amyloid Cardiomyopathy

Familial Amyloid Neuropathy, Portuguese Type

Amyloid Polyneuropathy, Swiss Type

Hereditary Oculoleptomeningeal Amyloid Angiopathy

Amyloid Neuropathies

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2

Cadasil 2

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2

Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease

Htra1-Related Autosomal Dominant Cerebral Angiopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Gaucher Disease, Type I

Glucocerebrosidase Deficiency

Acid Beta-Glucosidase Deficiency

Gba Deficiency

GD1

Gd I

Gaucher Disease, Noncerebral Juvenile

Gaucher Disease Type 1

Gaucher Disease Type I

Gaucher'S Disease Type I

Gaucher Disease

Gd 1

Non-Cerebral Juvenile Gaucher Disease

GD

Gaucher Disease 1

Adult Non-Neuronopathic Gaucher Disease

Noncerebral Juvenile Gaucher Disease

Type 1 Gaucher Disease

Gaucher Disease, Type 1

Mucopolysaccharidosis Iii

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

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

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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
Mus musculus GLA MGD MGI:1347344
Rattus norvegicus GLA RGD RGD:1589721
Bos taurus GLA VGNC VGNC:29390
Canis familiaris GLA VGNC VGNC:41248
Macaca mulatta GLA VGNC VGNC:73065
Macaca fascicularis GLA NCBI NCBI:102124721
Others GLA NCBI