1. Gene
  2. ENPP1 - ectonucleotide pyrophosphatase/phosphodiesterase 1 Gene

ENPP1 - ectonucleotide pyrophosphatase/phosphodiesterase 1 Gene

中文名称:外核苷酸焦磷酸酶/磷酸二酯酶 1

种属: Homo sapiens

同用名: M6S1; NPP1; NPPS; PC-1; PCA1; ARHR2; COLED; PDNP1

基因 ID: 5167 | 基因类型: protein coding

关于 ENPP1

Cytogenetic location: 6q23.2 Genomic coordinates (GRCh38): 6:131,808,020-131,895,155 (from NCBI)

This gene has 12 transcripts (splice variants), 225 orthologues, 6 paralogues and is associated with 10 phenotypes. Biased expression in placenta (RPKM 22.6), thyroid (RPKM 14.0) and 13 other tissues.

功能概要

该基因是外核苷酸焦磷酸酶/磷酸二酯酶 (ENPP) 家族的成员。编码的蛋白质是一种 II 型跨膜糖蛋白,包含两个相同的二硫键亚基。这种蛋白质具有广泛的特异性并可切割多种底物,包括核苷酸和核苷酸糖的磷酸二酯键以及核苷酸和核苷酸糖的焦磷酸键。该蛋白质可能起到将核苷 5' 三磷酸水解为相应单磷酸的作用,也可能水解二腺苷多磷酸。该基因的突变与“特发性”婴儿动脉钙化、脊柱后纵韧带骨化 (OPLL) 和胰岛素抵抗有关。[RefSeq 提供,2008 年 7 月]

This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and Insulin resistance. [provided by RefSeq, Jul 2008]

ENPP1 基因产物(1)

mRNA Protein Name
NM_006208.3 NP_006199.2 ectonucleotide pyrophosphatase/phosphodiesterase family member 1
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 ATP binding IDA
IDA: 通过直接分析推断
7830796 GOA
enables cyclic-GMP-AMP hydrolase activity IDA
IDA: 通过直接分析推断
25344812 GOA
enables dinucleotide phosphatase activity IDA
IDA: 通过直接分析推断
12746903 GOA
enables exonuclease activity IDA
IDA: 通过直接分析推断
22285541 GOA
enables insulin receptor binding IDA
IDA: 通过直接分析推断
7830796 GOA
enables nucleoside triphosphate diphosphatase activity IDA
IDA: 通过直接分析推断
7830796 GOA
enables phosphatase activity IDA
IDA: 通过直接分析推断
28592560 GOA
enables phosphodiesterase I activity IDA
IDA: 通过直接分析推断
27467858 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11289049 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
7830796 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 3'-phosphoadenosine 5'-phosphosulfate metabolic process IDA
IDA: 通过直接分析推断
7830796 GOA
involved in ATP metabolic process IDA
IDA: 通过直接分析推断
25644539 GOA
involved in bone mineralization IDA
IDA: 通过直接分析推断
28652107 GOA
involved in cellular response to insulin stimulus IDA
IDA: 通过直接分析推断
7830796 GOA
involved in gene expression IDA
IDA: 通过直接分析推断
28592560 GOA
involved in generation of precursor metabolites and energy IDA
IDA: 通过直接分析推断
12746903 GOA
involved in inorganic diphosphate transport IDA
IDA: 通过直接分析推断
10513816 GOA
involved in intracellular phosphate ion homeostasis IDA
IDA: 通过直接分析推断
11159191 GOA
involved in melanocyte differentiation IMP
IMP: 通过突变表型推断
28964717 GOA
involved in negative regulation of D-glucose import IDA
IDA: 通过直接分析推断
17849011 GOA
involved in negative regulation of cell growth IDA
IDA: 通过直接分析推断
17849011 GOA
involved in negative regulation of fat cell differentiation IDA
IDA: 通过直接分析推断
17849011 GOA
involved in negative regulation of glycogen biosynthetic process IDA
IDA: 通过直接分析推断
11289049 GOA
involved in negative regulation of insulin receptor signaling pathway IDA
IDA: 通过直接分析推断
7830796 GOA
involved in negative regulation of protein autophosphorylation IDA
IDA: 通过直接分析推断
11289049 GOA
involved in nucleic acid metabolic process IDA
IDA: 通过直接分析推断
22285541 GOA
involved in nucleoside triphosphate catabolic process IDA
IDA: 通过直接分析推断
10513816 GOA
involved in phosphate ion homeostasis IDA
IDA: 通过直接分析推断
28652107 GOA
involved in phosphate-containing compound metabolic process IDA
IDA: 通过直接分析推断
10513816 GOA
involved in response to ATP IDA
IDA: 通过直接分析推断
25644539 GOA
involved in sequestering of triglyceride IDA
IDA: 通过直接分析推断
17849011 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
10513816 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
11159191 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
25644539 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10513816 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

ENPP1 蛋白结构

Somatomedin_B

Somatomedin_B: Somatomedin B domain (106 - 142)

Somatomedin_B

Somatomedin_B: Somatomedin B domain (147 - 188)

Phosphodiest

Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (212 - 538)

Endonuclease_NS

Endonuclease_NS: DNA/RNA non-specific endonuclease (677 - 902)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 925 a.a.
蛋白主名 其他名称

ectonucleotide pyrophosphatase/phosphodiesterase family member 1

E-NPP 1

重组 ENPP1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77923 ENPP-1 Protein, Human (HEK293, His) P22413 (K98-D925) ≥95%
HY-P700956 ENPP-1 Protein, Human (Biotinylated, HEK293, His-Avi) P22413 (K98-D925) ≥95%

关联疾病

疾病名称 别名
Cole Disease

Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome

COLED

Guttate Hypopigmentation And Punctate Palmoplantar Keratoderma With Or Without Ectopic Calcification

Guttate Hypopigmentation

Punctate Palmoplantar Keratoderma With Or Without Ectopic Calcification

Guttate Hypopigmentation And Punctate Palmoplantar Keratoderma

Hypopigmentation And Punctate Keratosis Of The Palms And Soles

Col

Hypopigmentation Disorder

Albinoidism, Oculocutaneous, Autosomal Dominant

Hypophosphatemic Rickets, Autosomal Recessive, 2

ARHR2

Hypophosphatemia Autosomal Recessive

Rickets, Hypophosphatemic, Autosomal Recessive, Type 2

Arterial Calcification, Generalized, Of Infancy, 1

GACI1

Gaci

Idiopathic Infantile Arterial Calcification

Iiac

Arterial Calcification, Idiopathic Infantile

Arteriopathy, Occlusive Infantile

Arterial Calcification Of Infancy, Generalized, 1

Generalized Arterial Calcification Of Infancy

Occlusive Infantile Arteriopathy

Calcification, Arterial, Generalized, Infancy, Type 1

Arterial Calcification Of Infancy

Vascular Calcification

Arterial Calcification Of Infancy

Idiopathic Infantile Arterial Calcification

Generalized Arterial Calcification Of Infancy

Iiac

Occlusive Infantile Arteriopathy

Infantile Arteriosclerosis

Gaci

Idiopathic Obliterative Arteriopathy

Generalized Arterial Calcification In Infancy

Arteriopathia Calcificans Infantum

Diffuse Arterial Calcifying Elastopathy Of Infancy

Infantile Calcifying Arteriopathy

Medial Coronary Sclerosis Of Infancy

Coronary Sclerosis, Medial, Of Infancy

Calcification, Arterial, Generalized, Infancy

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

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

Autosomal Recessive Hypophosphatemic Rickets

Arhr

Hypophosphatemic Rickets, Autosomal Recessive

Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Ossification Of The Posterior Longitudinal Ligament Of Spine

OPLL

Ossification Of The Posterior Longitudinal Ligament Of The Spine

Ossification Of Posterior Longitudinal Ligament Of Spine

Ossification, Posterior Longitudinal Ligament Spine

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Hypercementosis

Cementation Hyperplasia

Chondrocalcinosis

Pseudogout

Calcium Pyrophosphate Deposition Disease

Familial Chondrocalcinosis

Chondrocalcinosis Nos

Cppd - [Calcium Pyrophosphate Deposition Disease]

Cpdd - [Calcium Pyrophosphate Deposition Disease]

Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site

Chondrocalcinosis, Cause Unspecified

Chondrocalcinosis Due To Pyrophosphate Crystals

Chondrocalcinosis Articularis

Calcium Pyrophosphate Arthritis And Periarthritis

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets

X-Linked Recessive Hypophosphatemic Rickets

XLRHR

Hypophosphatemic Rickets Disorders

Rickets Hypophosphatemic

Rickets, Hypophosphatemic, X-Linked Recessive

Familial Hypophosphatemic Rickets

Rickets

Vitamin D Deficiency

Vitamin D

Active Rickets

Hypovitaminosis D

Nutritional Rickets

Vitamin D Deficiency Disease

Vitamin-D Deficiency Rickets

Vitamin D-Dependent Rickets

Avitaminosis D

Infantile Osteomalacia

Juvenile Osteomalacia

Hypophosphatasia

Phosphoethanolaminuria

Childhood Hypophosphatasia

Deficiency Of Alkaline Phosphatase

Hypophospatasia, Childhood

Hypophosphatasia Mild

Phosphoethanol-Aminuria

Rathburn Disease

Hpp

Rathbun Disease

Hypophosphatasia, Childhood

Infantile Hypophosphatasia

Hypophosphatemia

Vitamin D-Resistant Rickets

Hereditary Hypophosphatemic Rickets

Vdrr

Vitamin D Resistant Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Familial Hypophosphatemic Rickets

Calcinosis

Pathologic Calcification

Pathologically Calcified Structure

Diabetes Mellitus

Diabetes

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia

CMDD

Cmdj

Cmd

Autosomal Dominant Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Jackson Type

Craniometaphyseal Dysplasia Jackson Type

Autosomal Recessive Craniometaphyseal Dysplasia

Cmdr

Dysplasia, Craniometaphyseal, Autosomal Dominant

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Calcification Of Joints And Arteries

Hereditary Arterial And Articular Multiple Calcification Syndrome

CALJA

Arterial Calcification Due To Cd73 Deficiency

Arterial Calcification Due To Deficiency Of Cd73

Acdc

Arterial Calcification And Distal Joint Calcification

Arterial Calcification Due To Deficiency Of Cd73:Acdc

Calcification Of Joints And Arteries

Calja

Glucose Intolerance

Glucose: Intolerance

Glucose: Malabsorption

Malabsorption Of Glucose

Impaired Glucose Tolerance

Osseous Heteroplasia, Progressive

Progressive Osseous Heteroplasia

POH

Osteoma Cutis

Familial Ectopic Ossification

Ectopic Ossification Familial Type

Ectopic Ossification

Heterotopic Ossification

Ectopic Ossification, Familial

Cutaneous Ossification

Myositis Ossificans Progressiva

Osteodermia

Osteosis Cutis

Ossification Heterotopic

Heteroplasia, Osseous, Progressive

Fibrodysplasia Ossificans Progressiva

Hypophosphatasia, Adult

Adult Hypophosphatasia

Odontohypophosphatasia

Hypophosphatasia, Mild

HPPA

Hypophosphatasia

Mild Hypophosphatasia

Adult Rathbun Disease

Adult Phosphoethanolaminuria

HOPS

Osteomalacia

Adult Rickets

Uremia

Uremia Of Renal Origin

Enthesopathy

Rheumatism

Gestational Diabetes

Gestational Diabetes Mellitus

GDM

Diabetes Mellitus Arising In Pregnancy

Maternal Gestational Diabetes Mellitus

Diabetes Mellitus, Gestational

Diabetes Mellitus, Pregnancy Related

Diabetes, Pregnancy-Induced

Diabetes Gestational

Diabetes, Gestational

Diabetes Of Pregnancy

Gdm - [Gestational Diabetes Mellitus]

Gestational Diabetes Mellitus Nos

Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Angioid Streaks
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Hypophosphatemic Rickets With Hypercalciuria, Hereditary

Hereditary Hypophosphatemic Rickets With Hypercalciuria

HHRH

Hypophosphatemic Rickets With Hypercalciuria

Hypercalciuric Rickets

Hypophosphatemic Rickets, Autosomal Dominant

Autosomal Dominant Hypophosphatemic Rickets

ADHR

Autosomal Dominant Hypophosphatemia

Vitamin D-Resistant Rickets, Autosomal Dominant

Hypophosphatemia, Autosomal Dominant

Autosomal Dominant Vitamin D-Resistant Rickets

Rickets, Hypophosphatemic, Autosomal Dominant

Osteoglophonic Dysplasia

Osteoglophonic Dwarfism

OGD

Fairbank-Keats Syndrome

Osteoglosphonic Dysplasia

Dysplasia, Osteoglophonic

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

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

Hypophosphatemic Rickets, X-Linked Dominant

X-Linked Hypophosphatemia

Xlh

Vitamin D-Resistant Rickets, X-Linked

X-Linked Hypophosphatemic Rickets

XLHR

Hyp

Hypophosphatemic Vitamin D-Resistant Rickets

Hpdr

X-Linked Dominant Hypophosphatemic Rickets

Familial Hypophosphatemic Rickets

Hypophosphatemia, X-Linked

Hypophosphatemia, Vitamin D-Resistant Rickets

Hypophosphatemic Rickets X-Linked Dominant

X-Linked Vitamin D-Resistant Rickets

Hypophophatemia, X-Linked

Hypophophatemic Vitamin D-Resistant Rickets

Hypophosphatemia X-Linked

Vitamin D-Resistant Rickets X-Linked

Vitamin D-Resistant Rickets

Rickets, X-Linked Hypophosphatemic

Hypophosphatasia, Childhood

Childhood Hypophosphatasia

Childhood-Onset Hypophosphatasia

HPPC

Childhood-Onset Phosphoethanolaminuria

Childhood-Onset Rathburn Disease

Childhood-Onset Rathbun Disease

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1

Hypophosphatemic Nephrolithiasis/Osteoporosis 1

NPHLOP1

Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1

Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Schimmelpenning-Feuerstein-Mims Syndrome

Nevus Sebaceus Of Jadassohn

Organoid Nevus Phakomatosis

Linear Nevus Sebaceous Syndrome

Sfm Syndrome

Jadassohn Nevus Phakomatosis

Jnp

Schimmelpenning Syndrome

Solomon Syndrome

SFM

Linear Sebaceous Nevus Syndrome

Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic

Nevus Sebaceus Syndrome

Organoid Nevus Syndrome

Schimmelpenning Feuerstein Mims Syndrome

Sebaceous Nevus Syndrome, Linear

Epidermal Nevus Syndrome, Formerly

Sebaceous Nevus Syndrome Linear

Linear Nevus Sebaceus Syndrome

Epidermal Nevus Syndrome

Ss

Nevus Sebaceous

Dental Abscess
Ankylosis
Tooth Ankylosis

Ankylosis Of Teeth

Ankylosis Of Tooth

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders

Disorder Of Phosphorus Metabolism

Phosphorus Disorder

Phosphorus Metabolism Disorder

Diffuse Idiopathic Skeletal Hyperostosis

Hyperostosis, Diffuse Idiopathic Skeletal

Ankylosing Vertebral Hyperostosis

Dish

Disseminated Idiopathic Skeletal Hyperostosis

Forestier Disease

Forestier'S Disease

Hyperostosis Diffuse Idiopathic Skeletal

Vitamin D-Dependent Rickets

Vddr

Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1

PCLD1

Cyst

Liver Disease, Polycystic, Type 1

Polycystic Liver Disease

Metaphyseal Chondrodysplasia, Jansen Type

Metaphyseal Chondrodysplasia, Murk Jansen Type

Jansen'S Metaphyseal Chondrodysplasia

MCDJ

Murk Jansen Type Metaphyseal Chondrodysplasia

Jansen Type Metaphyseal Chondrodysplasia

Jansen Disease

Jansen Metaphyseal Chondrodysplasia

Jansen Metaphyseal Dysostosis

Metaphyseal Chondrodysplasia Murk Jansen Type

Chondrodysplasia, Metaphyseal, Murk Jansen Type

Hypophosphatemic Nephrolithiasis/Osteoporosis

Nephrolithiasis/Osteoporosis, Hypophosphatemic

Tumoral Calcinosis, Normophosphatemic, Familial

Normophosphatemic Familial Tumoral Calcinosis

NFTC

Tumoral Calcinosis, Familial, Normophosphatemic

Calcinosis, Tumoral, With Normophosphatemia

Familial Normophosphatemic Tumoral Calcinosis

Tumoral Calcinosis With Normophosphatemia

Vitamin D Hydroxylation-Deficient Rickets, Type 1b

VDDR1B

Vitamin D-Dependent Rickets Type 1b

Vitamin D-Dependent Rickets, Type 1b

25-Hydroxyvitamin D3 Deficiency, Selective

Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency

Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency

Rickets Vitamin D-Dependent 1b

25-Hydroxyvitamimn D3 Deficiency Selective

25-Hydroxyvitamin D(3) Deficiency

Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency

Selective 25-Hydroxyvitamin D(3) Deficiency

Rickets Due To Defect In Vitamin D 25-Hydroxylation

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis

Hftc

Hyperostosis-Hyperphosphatemia Syndrome

Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

Tumoral Calcinosis, Hyperphosphatemic, Familial

Phptc

Lipocalcinogranulomatosis

Morbus Teutschlaender

Hhs

Hyperostosis With Hyperphosphatemia

Cortical Hyperostosis With Hyperphosphatemia

Primary Hyperphosphatemic Tumoral Calcinosis

Familial Tumoral Calcinosis

HFTC1

Hypercalcemic Tumoral Calcinosis

Hyperphosphatemia Hyperostosis

Hyperphosphatemia Hyperostosis Syndrome

Hyperphosphatemia Tumoral Calcinosis

Tumoral Calcinosis

Calcinosis, Tumoral, With Hyperphosphatemia

Tumoral Calcinosis, Primary Hyperphosphatemic

Teutschlaender Disease, Familial

Familial Teutschlaender Disease

Tumoral Calcinosis With Hyperphosphatemia

Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Ftc/Hhs

Familial Tumoral Calcinosis With Hyperphosphatemia

Teutschlaender Disease

Tumoral Calcinosis Primary Hyperphosphatemic

Calcinosis, Tumoral, Hyperphosphatemic, Familial

Vitamin D-Dependent Rickets, Type 2a

Hvdrr

Generalized Resistance To 1,25-Dihydroxyvitamin D

Hypocalcemic Vitamin D-Resistant Rickets

VDDR2A

Rickets, Hereditary Vitamin D-Resistant

Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

Pddr Iia

Rickets-Alopecia Syndrome

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

Vitamin D-Dependent Rickets, Type 2

Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

Generalized 1,25-Dihydroxyvitamin D

Pseudovitamin D-Deficiency, Type Iia

Hereditary Vitamin D-Resistant Rickets

Vddr Ii

Vdrr Ii

Vitamin D-Dependent Rickets Type Ii

Vitamin D-Resistant Rickets Type Ii

Rickets Vitamin D-Dependent 2a

Pseudovitamin D-Deficiency Type Iia

Rickets Hereditary Vitamin D-Resistant

Type Iia Rickets

Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

Vitamin D-Dependent Rickets, Type Ii

Familial Hypophosphatemic Rickets

Hypophosphatemic Rickets, X-Linked Dominant

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

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

Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Nevus, Epidermal

Epidermal Nevus

Woolly Hair Nevus

Epidermal Naevus

Epidermal Nevus Syndrome

Nevus, Keratinocytic, Nonepidermolytic

Epidermal Nevus, Somatic

Nevus, Epidermal, Somatic

Nevus Sebaceous Or Woolly Hair Nevus, Somatic

Nonepidermolytic Keratinocytic Nevus

Epidermal Hamartoma Syndrome

Wooly Hair Nevus

Keratinocytic Non-Epidermolytic Nevus

KNEN

Pigmented Moles

Organoid Nevus Phakomatosis

Nevus Sebaceous

Melanocytic Nevus

Melanocytic Nevus Of Skin

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

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

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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
Bos taurus ENPP1 VGNC VGNC:28504
Rattus norvegicus ENPP1 RGD RGD:628825
Macaca mulatta ENPP1 VGNC VGNC:72222
Canis familiaris ENPP1 VGNC VGNC:40374
Mus musculus ENPP1 MGD MGI:97370
Felis catus ENPP1 VGNC VGNC:61872
Others ENPP1 NCBI