1. Gene
  2. TSC1 - TSC complex subunit 1 Gene

TSC1 - TSC complex subunit 1 Gene

中文名称:TSC 复杂亚基 1

种属: Homo sapiens

同用名: LAM; TSC

基因 ID: 7248 | 基因类型: protein coding

关于 TSC1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:132,891,349-132,945,378 (from NCBI)

This gene has 47 transcripts (splice variants), 283 orthologues and is associated with 132 phenotypes. Ubiquitous expression in testis (RPKM 9.2), brain (RPKM 8.5) and 25 other tissues.

功能概要

该基因是一种肿瘤抑制基因,编码生长抑制蛋白 hamartin。编码的蛋白质与 GTPase 激活蛋白 tuberin 相互作用并稳定。这种 hamartin-tuberin 复合物负向调节哺乳动物雷帕霉素靶标复合物 1 (mTORC1) 信号,后者是合成代谢细胞生长的主要调节因子。这种蛋白质还充当 HSP90 的辅助伴侣,抑制其 ATP 酶活性。这种蛋白质作为 HSP90 介导的激酶和非激酶客户折叠的促进剂,包括 TSC2,从而防止它们的泛素化和蛋白酶体降解。该基因的突变与结节性硬化症和淋巴管平滑肌瘤病有关。[RefSeq 提供,2022 年 5 月]

This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for HSP90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

TSC1 基因产物(86)

mRNA Protein Name
NM_000368.5 NP_000359.1 hamartin isoform 1
NM_001162426.2 NP_001155898.1 hamartin isoform 3
NM_001162427.2 NP_001155899.1 hamartin isoform 4
NM_001362177.2 NP_001349106.1 hamartin isoform 5
NM_001406592.1 NP_001393521.1 hamartin isoform 1
NM_001406593.1 NP_001393522.1 hamartin isoform 1
NM_001406594.1 NP_001393523.1 hamartin isoform 1
NM_001406595.1 NP_001393524.1 hamartin isoform 1
NM_001406596.1 NP_001393525.1 hamartin isoform 1
NM_001406597.1 NP_001393526.1 hamartin isoform 3
NM_001406598.1 NP_001393527.1 hamartin isoform 3
NM_001406599.1 NP_001393528.1 hamartin isoform 3
NM_001406600.1 NP_001393529.1 hamartin isoform 3
NM_001406601.1 NP_001393530.1 hamartin isoform 5
NM_001406602.1 NP_001393531.1 hamartin isoform 5
NM_001406603.1 NP_001393532.1 hamartin isoform 6
NM_001406604.1 NP_001393533.1 hamartin isoform 6
NM_001406605.1 NP_001393534.1 hamartin isoform 7
NM_001406606.1 NP_001393535.1 hamartin isoform 7
NM_001406607.1 NP_001393536.1 hamartin isoform 7
NM_001406608.1 NP_001393537.1 hamartin isoform 8
NM_001406609.1 NP_001393538.1 hamartin isoform 8
NM_001406610.1 NP_001393539.1 hamartin isoform 4
NM_001406611.1 NP_001393540.1 hamartin isoform 9
NM_001406612.1 NP_001393541.1 hamartin isoform 9
NM_001406613.1 NP_001393542.1 hamartin isoform 10
NM_001406614.1 NP_001393543.1 hamartin isoform 5
NM_001406615.1 NP_001393544.1 hamartin isoform 5
NM_001406616.1 NP_001393545.1 hamartin isoform 5
NM_001406617.1 NP_001393546.1 hamartin isoform 5
NM_001406618.1 NP_001393547.1 hamartin isoform 5
NM_001406619.1 NP_001393548.1 hamartin isoform 5
NM_001406620.1 NP_001393549.1 hamartin isoform 11
NM_001406621.1 NP_001393550.1 hamartin isoform 11
NM_001406622.1 NP_001393551.1 hamartin isoform 11
NM_001406623.1 NP_001393552.1 hamartin isoform 11
NM_001406624.1 NP_001393553.1 hamartin isoform 12
NM_001406625.1 NP_001393554.1 hamartin isoform 13
NM_001406626.1 NP_001393555.1 hamartin isoform 14
NM_001406627.1 NP_001393556.1 hamartin isoform 15
NM_001406628.1 NP_001393557.1 hamartin isoform 15
NM_001406629.1 NP_001393558.1 hamartin isoform 16
NM_001406630.1 NP_001393559.1 hamartin isoform 16
NM_000368.5 NP_000359.1 hamartin isoform 1
NM_001162426.2 NP_001155898.1 hamartin isoform 3
NM_001162427.2 NP_001155899.1 hamartin isoform 4
NM_001362177.2 NP_001349106.1 hamartin isoform 5
NM_001406592.1 NP_001393521.1 hamartin isoform 1
NM_001406593.1 NP_001393522.1 hamartin isoform 1
NM_001406594.1 NP_001393523.1 hamartin isoform 1
NM_001406595.1 NP_001393524.1 hamartin isoform 1
NM_001406596.1 NP_001393525.1 hamartin isoform 1
NM_001406597.1 NP_001393526.1 hamartin isoform 3
NM_001406598.1 NP_001393527.1 hamartin isoform 3
NM_001406599.1 NP_001393528.1 hamartin isoform 3
NM_001406600.1 NP_001393529.1 hamartin isoform 3
NM_001406601.1 NP_001393530.1 hamartin isoform 5
NM_001406602.1 NP_001393531.1 hamartin isoform 5
NM_001406603.1 NP_001393532.1 hamartin isoform 6
NM_001406604.1 NP_001393533.1 hamartin isoform 6
NM_001406605.1 NP_001393534.1 hamartin isoform 7
NM_001406606.1 NP_001393535.1 hamartin isoform 7
NM_001406607.1 NP_001393536.1 hamartin isoform 7
NM_001406608.1 NP_001393537.1 hamartin isoform 8
NM_001406609.1 NP_001393538.1 hamartin isoform 8
NM_001406610.1 NP_001393539.1 hamartin isoform 4
NM_001406611.1 NP_001393540.1 hamartin isoform 9
NM_001406612.1 NP_001393541.1 hamartin isoform 9
NM_001406613.1 NP_001393542.1 hamartin isoform 10
NM_001406614.1 NP_001393543.1 hamartin isoform 5
NM_001406615.1 NP_001393544.1 hamartin isoform 5
NM_001406616.1 NP_001393545.1 hamartin isoform 5
NM_001406617.1 NP_001393546.1 hamartin isoform 5
NM_001406618.1 NP_001393547.1 hamartin isoform 5
NM_001406619.1 NP_001393548.1 hamartin isoform 5
NM_001406620.1 NP_001393549.1 hamartin isoform 11
NM_001406621.1 NP_001393550.1 hamartin isoform 11
NM_001406622.1 NP_001393551.1 hamartin isoform 11
NM_001406623.1 NP_001393552.1 hamartin isoform 11
NM_001406624.1 NP_001393553.1 hamartin isoform 12
NM_001406625.1 NP_001393554.1 hamartin isoform 13
NM_001406626.1 NP_001393555.1 hamartin isoform 14
NM_001406627.1 NP_001393556.1 hamartin isoform 15
NM_001406628.1 NP_001393557.1 hamartin isoform 15
NM_001406629.1 NP_001393558.1 hamartin isoform 16
NM_001406630.1 NP_001393559.1 hamartin isoform 16
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 ATPase inhibitor activity IDA
IDA: 通过直接分析推断
29127155 GOA
enables Hsp70 protein binding IDA
IDA: 通过直接分析推断
29127155 GOA
enables Hsp90 protein binding IPI
IPI: 通过物理相互作用推断
29127155 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9580671 GOA
enables protein folding chaperone IDA
IDA: 通过直接分析推断
10585443 GOA
enables protein-folding chaperone binding IPI
IPI: 通过物理相互作用推断
10585443 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of GTPase activity IDA
IDA: 通过直接分析推断
10806479 GOA
involved in cell-matrix adhesion IMP
IMP: 通过突变表型推断
10806479 GOA
involved in cellular response to starvation IDA
IDA: 通过直接分析推断
24529379 GOA
involved in negative regulation of ATP-dependent activity IDA
IDA: 通过直接分析推断
29127155 GOA
involved in negative regulation of TOR signaling IDA
IDA: 通过直接分析推断
22795129 GOA
involved in negative regulation of TOR signaling IMP
IMP: 通过突变表型推断
17308101 GOA
involved in negative regulation of TORC1 signaling IDA
IDA: 通过直接分析推断
12172553 GOA
involved in negative regulation of cell population proliferation IMP
IMP: 通过突变表型推断
10915759 GOA
involved in negative regulation of translation IMP
IMP: 通过突变表型推断
17308101 GOA
involved in positive regulation of focal adhesion assembly IDA
IDA: 通过直接分析推断
10806479 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
11175345 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
29127155 GOA
involved in regulation of cell-matrix adhesion IMP
IMP: 通过突变表型推断
10806479 GOA
involved in regulation of stress fiber assembly IDA
IDA: 通过直接分析推断
10806479 GOA
involved in regulation of translation IDA
IDA: 通过直接分析推断
17308101 GOA
involved in response to insulin IDA
IDA: 通过直接分析推断
16996505 GOA
involved in ribosomal subunit export from nucleus IMP
IMP: 通过突变表型推断
17308101 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of TSC1-TSC2 complex EXP
EXP: 通过实验结果推断
26893383 GOA
part of TSC1-TSC2 complex IDA
IDA: 通过直接分析推断
9580671 GOA
part of TSC1-TSC2 complex IPI
IPI: 通过物理相互作用推断
22795129 GOA
colocalizes with actin filament IDA
IDA: 通过直接分析推断
10806479 GOA
located in cell cortex IDA
IDA: 通过直接分析推断
10806479 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
9580671 GOA
located in cytosol IDA
IDA: 通过直接分析推断
10585443 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
10806479 GOA
is active in lysosomal membrane IDA
IDA: 通过直接分析推断
24529379 GOA
located in membrane IDA
IDA: 通过直接分析推断
16636147 GOA
part of protein folding chaperone complex IDA
IDA: 通过直接分析推断
29127155 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
10585443 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

TSC1 蛋白结构

Hamartin

Hamartin: Hamartin protein (3 - 719)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1164 a.a.
蛋白主名 其他名称

hamartin

tuberous sclerosis 1 protein

TSC1 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
Intra TSC1 Q92574 TSC2 Homo sapiens P49815
Anti Bait CoIP
9809973
Intra TSC1 Q92574 TSC2 Homo sapiens P49815
Anti Bait CoIP
9580671
Intra TSC1 Q92574 TSC2 Homo sapiens P49815
Anti Tag CoIP
33436626
Intra TSC1 Q92574 TSC2 Homo sapiens P49815
Y2H
9580671
Intra TSC1 Q92574 TSC2 Homo sapiens P49815
Confocal
9580671
Intra TSC1 Q92574 TSC2 Homo sapiens P49815
Anti Bait CoIP
21134130
Intra TSC1 Q92574 FTH1 Homo sapiens P02794
Y2H
17355907
Intra TSC1 Q92574 MAPK14 Homo sapiens Q16539
Pull Down
20368287
Intra TSC1 Q92574 MAPK14 Homo sapiens Q16539
Y2H Pooling
20368287
Intra TSC1 Q92574 BEX3 Homo sapiens Q00994
Pull Down
17355907
Intra TSC1 Q92574 IKBKB Homo sapiens O14920
Protein Kinase Assay
17693255
Intra TSC1 Q92574 IKBKB Homo sapiens O14920
Anti Bait CoIP
17693255
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Tuberous Sclerosis 1

Tuberous Sclerosis Complex

Tuberous Sclerosis

Bourneville Syndrome

TSC1

Tuberose Sclerosis

Ts

Tuberous Sclerosis-1

Bourneville Disease

Tsc

Bourneville Phakomatosis

Cerebral Sclerosis

Sclerosis Tuberosa

Tuberous Sclerosis, Type 1

Lymphangioleiomyomatosis

Lymphangiomyomatosis

LAM

Lung Lymphangioleiomyomatosis

Pulmonary Lymphangioleiomyomatosis

Lymphangioleiomyomatosis, Somatic

Lymphangio-Myomatosis

Focal Cortical Dysplasia, Type Ii

Focal Cortical Dysplasia Of Taylor

Cortical Dysplasia Of Taylor

Cdt

Fcdt

Isolated Focal Cortical Dysplasia Type Ii

FCORD2

Fcd2

Focal Cortical Dysplasia Type 2

Cortical Dysplasia Of Taylor, Dysplasia Only

Focal Cortical Dysplasia, Type Ii, Somatic

Focal Cortical Dysplasia Type Ii

Isolated Focal Cortical Dysplasia Type Iib

Fcd Type Iib

Cortical Dysplasia, Taylor Type

Fcd Type Ii

Isolated Focal Cortical Dysplasia Type 2

Isolated Focal Cortical Dysplasia Type Iia

Fcd Type Iia

Isolated Focal Cortical Dysplasia

Epilepsy Due To Fcd

Focal Cortical Dysplasia 2

Cdtbc

Cdtd

Cortical Dysplasia Of Taylor With Balloon Cells

Cortical Dysplasia Of Taylor Without Balloon Cells

Fcd Iia

Fcd Iib

Fcord2a

Fcord2b

Focal Cortical Dysplasia, Type Iia

Focal Cortical Dysplasia, Type Iib

Focal Cortical Dysplasia Of Taylor Balloon Cell Type

FCDBC

Focal Cortical Dysplasia, Taylor Balloon Cell Type

Dysplasia, Cortical, Focal Type Ii

Focal Cortical Dysplasia Of Taylor, Type Iib

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

Tuberous Sclerosis

Tuberous Sclerosis Syndrome

Bourneville'S Disease

Epiloia

Cerebral Sclerosis

Tuberose Sclerosis

Tuberous Sclerosis 1

Bourneville Disease

Bourneville Phakomatosis

Pringle'S Disease

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

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Angiomyolipoma

Angiomyolipoma Of Kidney

Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma

Subependymal Giant Cell Astrocytoma

Sega

Astrocytoma Subependymal Giant Cell

Subependymal Giant-Cell Astrocytoma

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc

Peutz-Jeghers Syndrome

PJS

Polyposis, Hamartomatous Intestinal

Polyps-And-Spots Syndrome

Lentiginosis, Perioral

Periorificial Lentiginosis Syndrome

Hamartomatous Intestinal Polyposis

Hamartomatous Polyp

Colonic Hamartomatous Polyp

Gastric Peutz-Jeghers Polyp

Peutz Jeghers Colon Polyp

Peutz Jeghers Polyp

Peutz-Jeghers Polyp Of Small Intestine

Peutz-Jeghers Small Bowel Hamartoma

Peutz Jeghers Polyposis

Intestinal Polyposis-Cutaneous Pigmentation Syndrome

Peutz-Jeghers Polyposis

Polyposis, Intestinal, Ii

Intestinal Hamartomatous Polyposis

Peutz-Jeghers Polyp

Peutz-Jeghers Polyp Of The Stomach

Peutz Jehgers Polyp

Peutz-Jeghers Polyps Of Small Bowel

Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly

Ostravik-Lindemann-Solberg Syndrome

CHDTHP

Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome

Orstavik Lindemann Solberg Syndrome

Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome

Heart Defect, Tongue Hamartoma And Polysyndactyly

Hamartoma

Obstructive Hydrocephalus
Subependymal Glioma

Mixed Subependymoma-Ependymoma

Subependymal Astrocytoma

Who Grade I Ependymal Tumor

Glioma, Subependymal

Benign Ependymoma

Ependymoma

Epithelial Ependymoma

Who Grade Ii Ependymal Tumor

Myxopapillary Ependymoma

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

D-2-Hydroxyglutaric Aciduria 1

D-2-Hydroxyglutaric Aciduria

D2HGA1

D-2-Hga

D-2-Hydroxyglutaric Acidemia

D2ha

D2hga

Aciduria, D-2-Hydroxyglutaric, Type 1

Combined D-2- And L-2-Hydroxyglutaric Aciduria

Fibroma
Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

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

Diffuse Lipomatosis
Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Ganglioglioma

Childhood Ganglioglioma

Adult Ganglioglioma

Cns Ganglioglioma

Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components

Pneumothorax

Pneumothorax Nos

Air Leak Nos

Pleural Air Leak Nos

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

Hepatic Angiomyolipoma
Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Perivascular Epithelioid Cell Tumor

Pecoma

Perivascular Epithelioid Cell Neoplasms

Neoplasm With Perivascular Epithelioid Cell Differentiation

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

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

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Ganglioneuroma
Neurofibromatosis, Type I

Von Recklinghausen Disease

Neurofibromatosis 1

Neurofibromatosis, Type 1

NF1

Neurofibromatosis, Peripheral Type

Neurofibromatosis Type I

Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion

Familial Spinal Neurofibromatosis

Fsnf

Peripheral Neurofibromatosis

Von Recklinghausen'S Neurofibromatosis

Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion

Neurofibromatosis Peripheral Type

Von Recklinghausen Syndrome

Neurofibromatosis Type 1

Von Recklinghausen Neuropathy

Nf1 - [Neurofibromatosis Type 1]

Recklinghausen Disease

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Epithelioid Type Angiomyolipoma

Epithelioid Angiomyolipoma

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

Heart Cancer

Malignant Neoplasm Of Heart

Heart Neoplasm

Cardiac Tumor

Malignant Cardiac Tumor

Tumour Of Heart

Heart Neoplasms

Cardiac Carcinoma

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Birt-Hogg-Dube Syndrome

Hornstein-Knickenberg Syndrome

Fibrofolliculomas With Trichodiscomas And Acrochordons

BHD

Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculoma Familial

Bhd Syndrome

Birt Hogg Dube Syndrome

Hornstein-Birt-Hogg-Dubé Syndrome

Multiple Fibrofolliculomas

Liver Lipoma

Hepatic Lipoma

Lipoma Of The Liver

Hemangioma

Hemangiomas

Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1

PCLD1

Cyst

Liver Disease, Polycystic, Type 1

Polycystic Liver Disease

Uterus Perivascular Epithelioid Cell Tumor

Uterine Corpus Pecoma

Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy

Fcd

CFD

Corneal Fleck Dystrophy

Francois-Neetens Speckled Corneal Dystrophy

Corneal Dystrophy, Francois-Neetens Speckled Or Flecked

Corneal Dystrophy Francois-Neetens Speckled Or Flecked

Dystrophy, Corneal, Fleck

Kidney Cancer

Renal Cancer

Renal Carcinoma

Kidney Neoplasm

Malignant Neoplasm Of Kidney Except Pelvis

Malignant Tumour Of Kidney

Kidney Neoplasms

Cancer, Kidney

Cancer, Renal

Malignant Neoplasm Of Kidney

Renal Cell Carcinoma

Low Grade Glioma

Benign Glioma

Multilocular Clear Cell Renal Cell Carcinoma

Cystadenocarcinoma Of Kidney

Renal Cystadenocarcinoma

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Pilocytic Astrocytoma

Juvenile Pilocytic Astrocytoma

Grade I Astrocytic Tumor

Piloid Astrocytoma

Perivascular Tumor

Malignant Perivascular Cancer

Central Nervous System Benign Neoplasm

Benign Neoplasm Of The Central Nervous System

Angiolipoma
Lymphoid Interstitial Pneumonia

Lymphocytic Interstitial Pneumonia

Lip Disease

Lip Diseases

LIP

Disease Of Lips

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

Spinal Cord Disease

Spinal Cord Diseases

Myelopathy

Bone Marrow Diseases

Connective Tissue Benign Neoplasm

Soft Tissue Neoplasms

Mesenchymal Tissue Neoplasm

Neoplasm Of Soft Tissue

Neoplasm Of Soft Tissues

Soft Tissue Benign Neoplasm

Tumor Of The Soft Tissue

Soft Tissue Neoplasm

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

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

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Gallbladder Disease

Gallbladder Diseases

Gall Bladder

Gall Bladder Diseases

Abnormal Gallbladder Function

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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]

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

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

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 TSC1 VGNC VGNC:36407
Mus musculus TSC1 MGD MGI:1929183
Rattus norvegicus TSC1 RGD RGD:620124
Macaca mulatta TSC1 VGNC VGNC:78658
Felis catus TSC1 VGNC VGNC:66605
Canis familiaris TSC1 VGNC VGNC:47890