1. Gene
  2. PIK3R1 - phosphoinositide-3-kinase regulatory subunit 1 Gene

PIK3R1 - phosphoinositide-3-kinase regulatory subunit 1 Gene

中文名称:磷酸肌醇 3 激酶调节亚基 1

种属: Homo sapiens

同用名: p85; AGM7; GRB1; IMD36; p85alpha; p85-ALPHA

基因 ID: 5295 | 基因类型: protein coding

关于 PIK3R1

Cytogenetic location: 5q13.1 Genomic coordinates (GRCh38): 5:68,215,756-68,301,821 (from NCBI)

This gene has 33 transcripts (splice variants), 248 orthologues, 2 paralogues and is associated with 135 phenotypes. Ubiquitous expression in fat (RPKM 16.6), brain (RPKM 16.6) and 24 other tissues.

功能概要

磷脂酰肌醇 3-激酶在 3-素数位置磷酸化磷脂酰肌醇的肌醇环。该酶包含一个 110 kD 的催化亚基和一个 85、55 或 50 kD 的调节亚基。该基因编码 85 kD 调节亚基。磷脂酰肌醇 3-激酶在胰岛素的代谢作用中起着重要作用,该基因的突变与胰岛素抵抗有关。该基因的可变剪接导致编码不同亚型的四种转录变体。[RefSeq 提供,2011 年 6 月]

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The Enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of Insulin, and a mutation in this gene has been associated with Insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

PIK3R1 基因产物(4)

mRNA Protein Name
NM_001242466.2 NP_001229395.1 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 4
NM_181504.4 NP_852556.2 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 2
NM_181523.3 NP_852664.1 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 1
NM_181524.2 NP_852665.1 phosphatidylinositol 3-kinase regulatory subunit alpha isoform 3

PIK3R1 蛋白结构

SH3_2

SH3_2: Variant SH3 domain (8 - 75)

RhoGAP

RhoGAP: RhoGAP domain (129 - 277)

SH2

SH2: SH2 domain (333 - 408)

SH2

SH2: SH2 domain (624 - 698)

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

phosphatidylinositol 3-kinase regulatory subunit alpha

PI3 kinase-associated p85

PIK3R1 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
PIK3R1 P27986 CHAF1A Homo sapiens Q13111 17474147
种属内
PIK3R1 P27986 CHAF1A Homo sapiens Q13111 26496610
种属内
PIK3R1 P27986 FLT1 Homo sapiens P17948
Y2H
7657594
种属内
PIK3R1 P27986 FLT1 Homo sapiens P17948
PLA
23397142
种属内
PIK3R1 P27986 FGFR1 Homo sapiens P11362
PLA
25241761
种属内
PIK3R1 P27986 FGFR1 Homo sapiens P11362 18412956
种属内
PIK3R1 P27986 CTLA4 Homo sapiens P16410 7807015
种属内
PIK3R1 P27986 CTLA4 Homo sapiens P16410 9813138
种属内
PIK3R1 P27986 MET Homo sapiens P08581
FPS
24728074
种属内
PIK3R1 P27986 IRS2 Homo sapiens Q9Y4H2 21241768
种属内
PIK3R1 P27986 IRS2 Homo sapiens Q9Y4H2 26496610
种属内
PIK3R1 P27986 SIK2 Homo sapiens Q9H0K1 27478041
种属内
PIK3R1 P27986 LAT Homo sapiens O43561 10811803
种属内
PIK3R1 P27986 LAT Homo sapiens O43561 10811803
种属内
PIK3R1 P27986 KIT Homo sapiens P10721 7537096
种属内
PIK3R1 P27986 KIT Homo sapiens P10721
FPS
24728074
种属内
PIK3R1 P27986 KIT Homo sapiens P10721 1382595
种属间
PIK3R1 P27986 mt_povm1 Mus musculus polyomavirus P0DOJ9
NMR
11123912
种属内
PIK3R1 P27986 ELK3 Homo sapiens P41970 25416956
种属内
PIK3R1 P27986 ELK3 Homo sapiens P41970 17474147
种属内
PIK3R1 P27986 SIRT1 Homo sapiens Q96EB6 21241768
种属内
PIK3R1 P27986 PIK3CB Homo sapiens P42338 26496610
种属内
PIK3R1 P27986 PIK3CB Homo sapiens P42338
PLA
25241761
种属内
PIK3R1 P27986 PIK3CB Homo sapiens P42338 35271311
种属内
PIK3R1 P27986 PIK3CB Homo sapiens P42338 20713702
种属内
PIK3R1 P27986 AXL Homo sapiens P30530 9178760
种属内
PIK3R1 P27986 MAPK8 Homo sapiens P45983 25284480
种属内
PIK3R1 P27986 MAPK8 Homo sapiens P45983 16982329
种属内
PIK3R1 P27986 MAPK8 Homo sapiens P45983 25284480
种属内
PIK3R1 P27986 EGFR Homo sapiens P00533 16273093
种属内
PIK3R1 P27986 EGFR Homo sapiens P00533 7797556
种属内
PIK3R1 P27986 LAPTM4B Homo sapiens Q86VI4-3 20711237
种属内
PIK3R1 P27986 LAPTM4B Homo sapiens Q86VI4-3 20711237
种属内
PIK3R1 P27986 PIK3R2 Homo sapiens O00459 35271311
种属内
PIK3R1 P27986 FLT3 Homo sapiens P36888 16982329
种属内
PIK3R1 P27986 GRB2 Homo sapiens P62993 20936779
种属内
PIK3R1 P27986 GRB2 Homo sapiens P62993 7642581
种属内
PIK3R1 P27986 CD28 Homo sapiens P10747 8146197
种属内
PIK3R1 P27986 CD28 Homo sapiens P10747 7568038
种属内
PIK3R1 P27986 CD28 Homo sapiens P10747 10820259
种属内
PIK3R1 P27986 CD28 Homo sapiens P10747 7807015
种属内
PIK3R1 P27986 CD28 Homo sapiens P10747 10820259
种属内
PIK3R1 P27986 HTT Homo sapiens P42858 23275563
种属内
PIK3R1 P27986 HTT Homo sapiens P42858
Y2H
17500595
种属内
PIK3R1 P27986 INSR Homo sapiens P06213 9593725
种属内
PIK3R1 P27986 INSR Homo sapiens P06213 11796522
种属内
PIK3R1 P27986 IGF1R Homo sapiens P08069 7589433
种属内
PIK3R1 P27986 IGF1R Homo sapiens P08069
Y2H
8603569
种属内
PIK3R1 P27986 IGF1R Homo sapiens P08069
PLA
25241761
种属内
PIK3R1 P27986 FASLG Homo sapiens P48023 19807924
种属内
PIK3R1 P27986 FASLG Homo sapiens P48023
PLA
25241761
种属内
PIK3R1 P27986 IRS1 Homo sapiens P35568
Y2H
14632132
种属内
PIK3R1 P27986 GAB1 Homo sapiens Q13480 10978177
种属内
PIK3R1 P27986 GAB1 Homo sapiens Q13480
FPS
24728074
种属内
PIK3R1 P27986 GAB1 Homo sapiens Q13480 10978177
种属内
PIK3R1 P27986 CBL Homo sapiens P22681 15581361
种属内
PIK3R1 P27986 CBL Homo sapiens P22681 8662998
种属内
PIK3R1 P27986 CBL Homo sapiens P22681 16982329
种属内
PIK3R1 P27986 CBL Homo sapiens P22681 15556646
种属内
PIK3R1 P27986 CBL Homo sapiens P22681 15556646
种属内
PIK3R1 P27986 TIRAP Homo sapiens P58753 19574958
种属内
PIK3R1 P27986 AR Homo sapiens P10275
FPS
24728074
种属内
PIK3R1 P27986 TLR3 Homo sapiens O15455 16858407
种属内
PIK3R1 P27986 TLR3 Homo sapiens O15455 16858407
种属内
PIK3R1 P27986 SRC Homo sapiens P12931
PLA
23397142
种属内
PIK3R1 P27986 SRC Homo sapiens P12931
PLA
25241761
种属内
PIK3R1 P27986 SSTR2 Homo sapiens P30874 16917505
种属内
PIK3R1 P27986 SSTR2 Homo sapiens P30874
SPR
16917505
种属内
PIK3R1 P27986 ERBB2 Homo sapiens P04626 16273093
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619 7692233
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619
Y2H
11710529
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619
ITC
10752619
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619 1314164
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619 11896612
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619
NMR
8670861
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619 7680644
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619
SPR
7536927
种属内
PIK3R1 P27986 PDGFRB Homo sapiens P09619 8564419
种属内
PIK3R1 P27986 LTK Homo sapiens P29376 9223670
种属内
PIK3R1 P27986 PIK3CD Homo sapiens O00329 31031754
种属内
PIK3R1 P27986 PIK3CD Homo sapiens O00329 35271311
种属内
PIK3R1 P27986 PIK3CD Homo sapiens O00329 21827948
种属内
PIK3R1 P27986 PIK3CD Homo sapiens O00329 21827948
种属内
PIK3R1 P27986 PIK3CD Homo sapiens O00329 21827948
种属内
PIK3R1 P27986 PIK3CD Homo sapiens O00329 22020336
种属内
PIK3R1 P27986 PIK3CD Homo sapiens O00329
GMS
21827948
种属内
PIK3R1 P27986 ERBB3 Homo sapiens P21860 16273093
种属内
PIK3R1 P27986 ERBB3 Homo sapiens P21860 10572067
种属间
PIK3R1 P27986 Nyap1 Mus musculus Q6PFX7 21946561
种属间
PIK3R1 P27986 Nyap1 Mus musculus Q6PFX7 21946561
种属间
PIK3R1 P27986 Nyap2 Mus musculus Q8BM65-4 21946561
种属间
PIK3R1 P27986 Nyap2 Mus musculus Q8BM65-4 21946561
种属内
PIK3R1 P27986 CMIP Homo sapiens Q8IY22 20018188
种属内
PIK3R1 P27986 CMIP Homo sapiens Q8IY22 20018188
种属内
PIK3R1 P27986 RXRA Homo sapiens P19793 20541701
种属内
PIK3R1 P27986 RXRA Homo sapiens P19793 20541701
种属内
PIK3R1 P27986 GRB10 Homo sapiens Q13322 23246379
种属间
PIK3R1 P27986 Irs1 Rattus norvegicus P35570 1380456
种属间: 跨种属相互作用 种属内: 同种属相互作用

PIK3R1 抗体

目录号 产品名 应用 反应物种
HY-P80846 Phospho-PI3 Kinase p85/p55 (Tyr467/Tyr199) Antibody WB, IHC-F, IHC-P, ICC/IF, ELISA Human, Mouse, Rat, Monkey
HY-P80867 PI3 Kinase p85 alpha Antibody (YA689) WB, IHC-P Human, Mouse, Rat

关联疾病

疾病名称 别名
Short Syndrome

Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay

Aarskog-Ose-Pande Syndrome

Lipodystrophy, Partial, With Rieger Anomaly And Short Stature

Lipodystrophy-Rieger Anomaly-Diabetes Syndrome

Rieger Anomaly-Partial Lipodystrophy Syndrome

Partial Lipodystrophy With Rieger Anomaly And Short Stature

Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay

Growth Retardation-Rieger Anomaly

Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay

SHORTS

Agammaglobulinemia 7, Autosomal Recessive

AGM7

Agammaglobulinemia, Autosomal Recessive, Due To Pik3r1 Defect

Agammaglobulinemia Autosomal Recessive Due To Pik3r1 Defect

Agammaglobulinemia, Type 7, Autosomal Recessive

Immunodeficiency 36

IMD36

Activated Phosphoinositide 3-Kinase Delta Syndrome 2

Immunodeficiency, Type 36

Immunodeficiency 14a, Autosomal Dominant

Activated Pi3k-Delta Syndrome

Apds

P110-Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Pasli

IMD14A

Immunodeficiency 14

P110δ-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation

Activated Pi3k-Delta Immunodeficiency Syndrome

Agammaglobulinemia, Non-Bruton Type

Autosomal Agammaglobulinemia

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

Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

Cloves Syndrome

Clove Syndrome

Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities

Clove Syndrome, Somatic

Nevus

Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi

Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome

Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome

CLOVE

Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities

Congenital Arteriovenous Malformation

Arteriovenous Hemangioma

Melanocytic Nevus

Benign Melanocytic Nevus

Uterine Carcinosarcoma

Carcinosarcoma Of The Corpus Uteri

Mixed Mullerian Sarcoma Of Uterus

Malignant Mixed Müllerian Tumor Of The Corpus Uteri

Malignant Mixed Müllerian Tumor Of Corpus Uteri

Mixed Müllerian Cancer Of Corpus Uteri

Malignant Mixed Mullerian Tumor Of The Corpus Uteri

Mixed Mullerian Cancer Of Corpus Uteri

Uterine Corpus Carcinosarcoma

Brain Cancer

Adult Brain Tumor

Malignant Neoplasm Of Brain

Brain Neoplasms

Brain Neoplasm

Neoplasm Of Brain

Primary Malignant Neoplasm Of Brain

Brain Tumors

Adult Malignant Brain Neoplasm

Brain Neoplasm, Adult

Bt - Brain Tumour

Malignant Brain Tumour

Malignant Primary Brain Neoplasm

Malignant Primary Brain Tumor

Malignant Tumor Of Adult Brain

Malignant Tumor Of Brain

Primary Brain Neoplasm

Primary Brain Tumor

Tumor Of The Brain

Brain Tumor, Adult

Brain Tumor Primary

Malignant Primary Brain Tumors

Primary Brain Tumors

Cancer, Brain

Brain Tumor, Primary

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

Agammaglobulinemia 7
Giant Cell Glioblastoma

Monstrocellular Sarcoma

Agammaglobulinemia

Hypogammaglobulinemia

Ighm

Mu Heavy Chain Deficiency

Mu-Heavy Chain Disease

Mu-Hcd

Mu-Chain Disease

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Immunodeficiency 14

Activated Pi3k-Delta Syndrome

Apds

Pasli Disease

Imd14

Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation

P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Skin Melanoma

Cutaneous Melanoma

Malignant Ear Melanoma

Malignant Lip Melanoma

Malignant Lower Limb Melanoma

Malignant Melanoma Of Ear And/Or External Auricular Canal

Malignant Melanoma Of Skin Of Lower Limb

Malignant Melanoma Of Skin Of Trunk Except Scrotum

Malignant Melanoma Of Skin Of Upper Limb

Malignant Neck Melanoma

Malignant Scalp Melanoma

Malignant Trunk Melanoma

Malignant Upper Limb Melanoma

Melanoma, Cutaneous Malignant

Melanoma

Malignant Melanoma Of Skin

Melanoma Nos

Malignant Mole, Meaning Melanoma Of Unspecified Site

Melanoma Of Unspecified Site

Cutaneous Malignant Melanoma

Mm - [Malignant Melanoma]

Uterine Corpus Endometrial Carcinoma
Breast Myoepithelial Neoplasm

Breast Myoepithelial Tumor

Malignant Breast Myoepithelioma

Breast Adenomyoepithelioma

Adenomyoepithelioma Of The Breast

Breast Adenomyoepithelioma With Malignant Change

Malignant Adenomyoepithelioma Of Breast

Hypersplenism

Hypersplenia

Big Spleen Syndrome

Hyperfunction Of Spleen

Increased Splenic Activity

Spleen Metaplasia

Splenic Metaplasia

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Wiskott-Aldrich Syndrome

WAS

Eczema-Thrombocytopenia-Immunodeficiency Syndrome

Immunodeficiency 2

Aldrich Syndrome

Imd2

Wiskott-Aldrich Syndrome 1

Was1

Wiskott Syndrome

Wiskott Aldrich Syndrome

Eczema Thrombocytopenia Immunodeficiency Syndrome

Imd 2

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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

Systemic Mastocytosis

Systemic Mast Cell Disease

Systemic Tissue Mast Cell Disease

Mastocytosis, Systemic

Smcd - Systemic Mast Cell Disease

Smcd

Mast Cell Disease, Systemic

Systemic Mast-Cell Disease

Systemic Mastocytoses

Mastocytosis Systemic

Corneal Dystrophy, Subepithelial Mucinous

Smcd - [Systemic Mast Cell Disease]

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome

Rudiger Syndrome 1

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

EEC1

Eec Syndrome 1

Eec Syndrome-1

Walker-Clodius Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

Eec

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly-Cleft Lip/Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

Ectrodactyly-Cleft Lip-Palate Syndrome

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Lambda 5 Deficiency
Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Insulin-Like Growth Factor I

Insulin-Like Growth Factor I Deficiency

IGF1 DEFICIENCY

Insulin-Like Growth Factor I, Resistance To

Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor I Resistance

IGF1RES

Igf-I Resistance

Somatomedin, End-Organ Insensitivity To

Somatomedin-C

Somatomedin-C, Resistance To

Growth Retardation With Sensorineural Deafness And Mental Retardation

Insulin-Like Growth Factor 1 Resistance To

Igf-1 Resistance

Somatomedin End-Organ Insensitivity To

Somatomedin-C Resistance To

Growth Restriction With Sensorineural Deafness And Intellectual Disability

Growth Delay-Deafness-Intellectual Disability Syndrome

Growth Delay-Hearing Loss-Intellectual Disability Syndrome

Igf-1 Deficiency

Primary Insulin-Like Growth Factor Deficiency

Resistance To Igf-1

Insulin-Like Growth Factor 1 Resistance

End-Organ Insensitivity To Somatomedin

Igf1 Resistance

Resistance To Insulin-Like Growth Factor I

Resistance To Somatomedin-C

Insulin-Like Growth Factor 1, Resistance To

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Female Reproductive Endometrioid Cancer

Endometrioid Tumor

Endometrioid Neoplasm

Female Reproductive Endometrioid Neoplasm

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Erythrocytosis, Familial, 1

ECYT1

Pfcp

Primary Familial And Congenital Polycythemia

Familial Erythrocytosis 1

Familial Erythrocytosis

Polycythemia, Primary Familial And Congenital

Autosomal Dominant Benign Erythrocytosis

Familial Erythrocytosis Type 1

Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation

Congenital Polycythemia Due To Erythropoietin Receptor Mutation

Primary Congenital Erythrocytosis

Primary Familial Polycythemia

Erythrocytosis, Autosomal Dominant Benign

Erythrocytosis, Somatic

Autosomal Dominant Familial Erythrocytosis-1

Erythrocytosis Autosomal Dominant Benign

Familial Primary Polycythemia

Familial Erythrocytosis, 1

Erythrocytosis, Familial, Type 1

Proteus Syndrome

Proteus Syndrome, Somatic

Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly

Wiedemann'S Syndrome

Hemihypertrophy And Macrocephaly

Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly

Ps

PROTEUSS

Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Uterine Body Mixed Cancer

Malignant Mixed Tumor Of Corpus Uteri

Malignant Mixed Tumor, Not Otherwise Specified

Uterine Corpus Cancer

Corpus Uteri Cancer

Malignant Uterine Corpus Neoplasm

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome

KTS

Ktw Syndrome

Angioosteohypertrophy Syndrome

Angio-Osteohypertrophy Syndrome

Klippel Trenaunay Syndrome

Klippel-Trénaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Weber-Klippel-Trenaunay

Congenital Dysplastic Angiopathy

Klippel-Trenaunay Disease

Weber Klippel Trenaunay

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Diabetes Mellitus

Diabetes

Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

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

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 PIK3R1 MGD MGI:97583
Macaca mulatta PIK3R1 VGNC VGNC:75999
Bos taurus PIK3R1 VGNC VGNC:32894
Felis catus PIK3R1 VGNC VGNC:68858
Rattus norvegicus PIK3R1 RGD RGD:3329
Canis familiaris PIK3R1 VGNC VGNC:44560
Others PIK3R1 NCBI