1. Gene
  2. CASR - calcium sensing receptor Gene

CASR - calcium sensing receptor Gene

中文名称:钙敏感受体

种属: Homo sapiens

同用名: CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; hCasR; GPRC2A; HYPOC1

基因 ID: 846 | 基因类型: protein coding

关于 CASR

Cytogenetic location: 3q13.33-q21.1 Genomic coordinates (GRCh38): 3:122,183,668-122,291,629 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues, 4 paralogues and is associated with 8 phenotypes. Biased expression in kidney (RPKM 8.6), gall bladder (RPKM 2.1) and 2 other tissues.

功能概要

该基因编码的蛋白质是质膜 G 蛋白偶联受体,可感知循环钙浓度的微小变化。编码的蛋白质将此信息耦合到细胞内信号通路,从而改变甲状旁腺激素分泌或肾阳离子处理,因此该蛋白质在维持矿物质离子稳态方面起着重要作用。该基因的突变是家族性低尿钙性高钙血症、新生儿严重甲状旁腺功能亢进症和常染色体显性低钙血症的原因。[RefSeq 提供,2017 年 8 月]

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]

CASR 基因产物(6)

mRNA Protein Name
XM_047449065.1 XP_047305021.1 extracellular calcium-sensing receptor isoform X2
XM_017007325.2 XP_016862814.1 extracellular calcium-sensing receptor isoform X1
NM_000388.4 NP_000379.3 extracellular calcium-sensing receptor isoform 2 precursor
XM_017007324.2 XP_016862813.1 extracellular calcium-sensing receptor isoform X1
NM_001178065.2 NP_001171536.2 extracellular calcium-sensing receptor isoform 1 precursor
XM_006713789.4 XP_006713852.1 extracellular calcium-sensing receptor isoform X1
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 G protein-coupled receptor activity IDA
IDA: 通过直接分析推断
27434672 GOA
enables amino acid binding IDA
IDA: 通过直接分析推断
27434672 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
27434672 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
34194040 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20361938 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16740594 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
27434672 GOA
involved in G protein-coupled receptor signaling pathway IMP
IMP: 通过突变表型推断
8636323 GOA
involved in calcium ion import IDA
IDA: 通过直接分析推断
20846291 GOA
involved in detection of calcium ion IDA
IDA: 通过直接分析推断
27434672 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: 通过直接分析推断
27434672 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
8702647 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

CASR 蛋白结构

ANF_receptor

ANF_receptor: Receptor family ligand binding region (69 - 495)

NCD3G

NCD3G: Nine Cysteines Domain of family 3 GPCR (538 - 591)

7tm_3

7tm_3: 7 transmembrane sweet-taste receptor of 3 GCPR (622 - 860)

  • 0
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  • 1078 a.a.
蛋白主名 其他名称

extracellular calcium-sensing receptor

parathyroid Ca(2+)-sensing receptor 1

parathyroid cell calcium-sensing receptor 1

重组 CASR 蛋白

目录号 产品名 蛋白编号 纯度
HY-P79408 Calcium-sensing R/CaSR Protein, Human (HEK293, His) P41180-1 (Y20-K601) ≥95%

关联疾病

疾病名称 别名
Hypoparathyroidism

Hypoparathyroidism, Idiopathic

Parathyroid, Underactivity Of

Syndrome With Hypoparathyroidism

Deficiency Of Parathyroid Hormone

Parathyroid Gland Insufficiency

Parathyroid Insufficiency

Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion

Hyperparathyroidism

Hyperparathyroidism And Other Disorders Of Parathyroid Gland

Parathyroid Hyperfunction

Hpth - [Hyperparathyroidism]

Parathyroid Gland Hyperfunction

Parathyroid Glandular Hyperfunction

Insulinoma

Islet Cell Adenoma

Insulin-Producing Tumor Of Islet Cells

Adenoma Islet Cell

Islet Cell Tumor

Experimental Organism Islet Cell Adenoma Neoplasm

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

Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Sanjad-Sakati Syndrome

Hrd Syndrome

HRDS

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome

Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome

Richardson-Kirk Syndrome

Sss

Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay

Hypoparathyroidism With Short Stature, Mental Retardation And Seizures

Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures

Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay

Gastrinoma

Gastrin Cell Tumour

Gastrin Secreting Tumor

Malignant Gastrinoma

Gastrinoma, Malignant

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

17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency

17-Ksr Deficiency

Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency

Pseudohermaphroditism, Male, With Gynecomastia

17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency

Testosterone 17-Beta-Dehydrogenase Deficiency

17-Ketosteroid Reductase Deficiency Of Testis

17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

17-Ketoreductase Deficiency

17-Ketosteroidreductase Deficiency

46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

Male Pseudohermaphroditism With Gynecomastia

17 Alpha Ksr Deficiency

17 Alpha Ketosteroid Reductase Deficiency Of Testis

17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency

Male Pseudoherma-Phroditism With Gynecomastia

Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency

Male Pseudohermaphrodism With Gynecomastia

MPH

17-Hydroxysteroid Dehydrogenase Deficiency

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders

Disorder Of Phosphorus Metabolism

Phosphorus Disorder

Phosphorus Metabolism Disorder

Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

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

Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia

APS1

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Apeced

Pga I

Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis

Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia

Polyglandular Autoimmune Syndrome, Type 1

Autoimmune Polyglandular Syndrome Type 1

Autoimmune Polyendocrine Syndrome Type 1

Autoimmune Polyendocrinopathy Syndrome Type 1

Whitaker Syndrome

Aps Type 1

Polyglandular Type I Autoimmune Syndrome

Aps I

Autoimmune Polyglandular Syndrome, Type I

Polyglandular Autoimmune Syndrome, Type I

Aps 1

Autoimmune Polyglandular Syndrome Type I

Pga 1

Pga-I

Polyglandular Autoimmune Syndrome Type 1

Type I Polyglandular Autoimmune Syndrome

Aire Deficiency

Autoimmune Polyendocrinopathy With Candidiasis And Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome, Type 1

Autoimmune Polyendocrinopathy Type 1

Apeced Syndrome

Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome

Ham Syndrome

Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome

Medac Syndrome

Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome

Autoimmune Polyendocrine Syndrome 1, With Or Without Reversible Metaphyseal Dysplasia

Aps-1

Autoimmune Polyendocrine Syndrome Type I

Autoimmune Polyendocrinopathy Syndrome Type I

Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

Polyglandular Autoimmune Syndrome Type I

Polyglandular Deficiency Syndrome Persian-Jewish Type

Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

Polyendocrinopathy Autoimmune, Type 1, With/Without Reversible Metaphyseal Dysplasia

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Hyperparathyroidism, Neonatal Severe

NSHPT

Neonatal Severe Primary Hyperparathyroidism

Nsph

Nhpt

Hyperparathyroidism, Neonatal

Hyperparathyroidism, Neonatal Severe Primary

Neonatal Severe Hyperparathyroidism

Hyperparathyroidism, Severe, Neonatal

Neonatal Hyperparathyroidism

Parathyroid Adenoma

Adenoma Of Parathyroid

Adenoma Of The Parathyroid Gland

Parathyroid Gland Adenoma

Hypercalcemia, Infantile, 1

HCINF1

Hypercalcemia, Idiopathic, Of Infancy

Hypercalcemia Infantile

Idiopathic Hypercalcemia Of Infancy

Infantile Hypercalcemia

Hypercalcemia, Infantile

Hypercalcemia, Infantile, Type 1

Hypercalcemia

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism

Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus

Pancreatitis

Mumps Pancreatitis

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

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

Bartter Disease

Bartter Syndrome

Bartter'S Syndrome

Aldosteronism With Hyperplasia Of The Adrenal Cortex

Hypokalemic Alkalosis With Hypercalciuria

Potassium Wasting

Juxtaglomerular Hyperplasia With Secondary Aldosteronism

Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

Salt-Losing Tubular Disorder, Henle'S Loop Type

Salt-Wasting Tubulopathy, Henle'S Loop Type

Bartters Syndrome

Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3

Familial Hypocalciuric Hypercalcemia 3

Fbh3

Familial Hypocalciuric Hypercalcemia Type 3

Hypercalcemia, Familial Benign, Oklahoma Type

Hypocalciuric Hypercalcemia, Type Iii

Fhh Type 3

Hypocalciuric Hypercalcemia Type Iii

Familial Benign Hypercalcemia, Type Iii

Hypercalcemia, Familial Benign, Type Iii

Fbhok

Familial Benign Hypercalcemia, Oklahoma Variant

Familial Benign Hypercalcemia, Type 3

Hypercalcemia, Familial Benign, Type 3

Hypocalciuric Hypercalcemia, Familial, Type 3

Hypocalciuric Hypercalcemia, Familial 3

Familial Benign Hypercalcemia 3

Familial Benign Hypercalcemia Oklahoma Type

Familial Benign Hypocalciuric Hypercalcemia 3

Fbhh3

Fhh3

Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia

Autosomal Dominant Hypocalcemia 1

HYPOC1

Hypocalcemia, Autosomal Dominant

Hypercalciuric Hypocalcemia

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

Familial Hypocalcemia

Hypocalcemia, Familial

Hypoc

Adh

Autosomal Dominant Hypoparathyroidism

Familial Hypercalciuric Hypocalcemia

Ad Hypocalcemia

Autosomal Dominant Hypocalcemia With Bartter Syndrome

Hypoparathyroidism - Autosomal Dominant

Hypocalcemia

Hypercalciuria, Absorptive, 2

HCA2

Hypercalciuria, Absorptive, Susceptibility To

Hypercalciuria, Absorptive

Familial Idiopathic Hypercalciuria

Hypercalciuria, Familial Idiopathic

Hypercalciuria Absorptive 2

Hypercalciuria Familial Idiopathic

Hypercalciuria, Absorptive, Type 2

Hypercalciuria

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Parathyroid Gland Disease

Parathyroid Diseases

Disease Of Parathyroid Glands

Parathyroid Disease

Familial Isolated Hypoparathyroidism

Fih

Urolithiasis
Secondary Hyperparathyroidism

Hyperparathyroidism Secondary

Hyperparathyroidism, Secondary

Secondary Hyperparathyroidism Nec

Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Renal Osteodystrophy

Renal Rickets

Chronic Kidney Disease-Mineral And Bone Disorder

Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia

Fbh

Fbhh

Fhh

Familial Benign Hypocalciuric Hypercalcemia

Hypocalciuric Hypercalcemia, Familial, Type 1

Hyperparathyroidism 2 With Jaw Tumors

Hyperparathyroidism-Jaw Tumor Syndrome

Hpt-Jt

HRPT2

Familial Primary Hyperparathyroidism With Multiple Ossifying Jaw Fibromas

Parathyroid Adenoma With Cystic Changes

Hereditary Hyperparathyroidism-Jaw Tumor Syndrome

Hyperparathyroidism 2

Hyperparathyroidism, Familial Primary, With Multiple Ossifying Jaw Fibromas

Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary

Familial Cystic Parathyroid Adenomatosis

Hyperparathyroidism-Jaw Tumor Syndrome, Type 2

Parathyroid Adenomatosis, Familial Cystic

Autoimmune Polyendocrine Syndrome Type 1

Whitaker Syndrome

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome I

Polyglandular Type I Autoimmune Syndrome

Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia

Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria

Potassium And Magnesium Depletion

GTLMNS

Gitelman'S Syndrome

Gs

Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria

Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria

Bartter Syndrome Gitelman Variant

Bartter Syndrome Hypocalciuric Variant

Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Diabetes Insipidus
Inflammatory Diarrhea
Epilepsy, Idiopathic Generalized 8

Epilepsy, Idiopathic Generalized, Susceptibility To, 8

EIG8

Epilepsy Idiopathic Generalized, Susceptibility To, 8

Epilepsy Idiopathic Generalized 8

Idiopathic Generalized Epilepsy 8

Susceptibility To Idiopathic Generalized Epilepsy 8

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 8

Hyperphosphatemia
Bartter Syndrome, Type 3

Bartter Disease Type 3

BARTS3

Bartter Syndrome Type 3

Bartter Syndrome, Classic

Classic Bartter Syndrome

Bartter Syndrome Classic

Bartter Syndrome Type Iii

Bartter Syndrome 3

Rickets

Vitamin D Deficiency

Active Rickets

Hypovitaminosis D

Nutritional Rickets

Vitamin D Deficiency Disease

Vitamin-D Deficiency Rickets

Vitamin D

Vitamin D-Dependent Rickets

Avitaminosis D

Infantile Osteomalacia

Juvenile Osteomalacia

Uremia

Uremia Of Renal Origin

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

Parathyroid Carcinoma

Parathyroid Cancer

Parathyroid Neoplasms

Malignant Tumor Of Parathyroid Gland

PRTC

Carcinoma Of Parathyroid Gland

Malignant Neoplasm Of Parathyroid Gland

Parathyroid Gland Adenocarcinoma

Parathyroid Gland Cancer

Parathyroid Neoplasm

Parathyroid Gland Carcinoma

Malignant Neoplasm Of The Parathyroid

Neoplasm Of Parathyroid Gland

Parathyroid Gland Neoplasm

Cancer Of The Parathyroid

Cancer Of The Parathyroid Gland

Malignant Neoplasm Of Parathyroid

Malignant Parathyroid Gland Neoplasm

Malignant Parathyroid Gland Tumor

Malignant Parathyroid Neoplasm

Malignant Parathyroid Tumor

Malignant Tumor Of Parathyroid

Parathyroid Adenocarcinoma

Neoplasm Of The Parathyroid Gland

Carcinoma, Parathyroid

Hypocalciuric Hypercalcemia, Familial, Type Ii

HHC2

Familial Hypocalciuric Hypercalcemia 2

Fbh2

Familial Hypocalciuric Hypercalcemia Type 2

Hypocalciuric Hypercalcemia, Type Ii

Fhh Type 2

Familial Benign Hypercalcemia, Type Ii

Hypercalcemia, Familial Benign, Type Ii

Hypocalciuric Hypercalcemia Type Ii

Familial Benign Hypercalcemia, Type 2

Hypercalcemia, Familial Benign Type 2

Hypocalciuric Hypercalcemia, Familial, Type 2

Hypocalciuric Hypercalcemia, Familial 2

Familial Benign Hypercalcemia Type Ii

Hypocalciuric Hypercalcemia-2

Primary Hyperparathyroidism

Familial Primary Hyperparathyroidism

Hyperparathyroidism, Primary

Hyperparathyroidism Primary

Hypocalciuric Hypercalcemia, Familial, Type 1

Familial Benign Hypercalcemia

Familial Hyperparathyroidism

Parathyroid Enlargement

Pancreatitis, Hereditary

Hereditary Pancreatitis

Chronic Pancreatitis

Hereditary Chronic Pancreatitis

Hp

Pancreatitis, Chronic, Susceptibility To

PCTT

Hpc

Pancreatitis, Chronic

Pancreatitis, Chronic, Protection Against

Autosomal Dominant Hereditary Pancreatitis

Familial Pancreatitis

Cp

Pancreatitis Hereditary

Osteitis Fibrosa

Osteitis Fibrosa Cystica

Hyperparathyroid Bone Disease

Osteitis Fibrosa Cystica Generalisata

Von Recklinghausen'S Bone Disease

Osteitis Fibrosa Disseminata

Calciphylaxis

Idiopathic Calciphylaxis

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy, Hypertrophic, Familial

Familial Hypertrophic Cardiomyopathy

Cardiomyopathy Hypertrophic Obstructive

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Kenny-Caffey Syndrome

Kenny Syndrome

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

Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease

Sialolithiasis

Sialolith

Stone Of Salivary Gland Or Duct

Salivary Gland Calculi

Salivary Gland Stone

Calculus Of Salivary Gland Or Duct

Calculus Of Salivary Gland

Salivary Calculus

Salivary Gland Calculus

Salivary Stone

Salivary Duct Calculi

Sialodocholithiasis

Hypoparathyroidism-Deafness-Renal Disease Syndrome

Barakat Syndrome

Hypoparathyroidism, Deafness, Renal Disease Syndrome

Hdr Syndrome

Hypoparathyroidism, Sensorineural Deafness, And Renal Disease

Autoimmune Polyendocrine Syndrome

Autoimmune Polyendocrinopathy

Autoimmune Polyglandular Failure

Autoimmune Polyglandular Syndrome

Polyendocrinopathies, Autoimmune

Lloyd'S Syndrome

Aps

Polyendocrinopathies Autoimmune

Polyendocrine Autoimmunity Syndrome

Lloyd Syndrome

Polyglandular Autoimmune Deficiency

Progressive Pluriglandular Insufficiency

Pluriglandular Autoimmune Atrophy

Pluriglandular Autoimmune Syndrome

Thyroid-Adrenocortical Insufficiency Syndrome

Diarrhea 1, Secretory Chloride, Congenital

DIAR1

Chloride Diarrhea, Congenital, Finnish Type

Congenital Secretory Chloride Diarrhea 1

Congenital Chloride Diarrhea Finnish Type

Congenital Chloride Diarrhea

Chloridorrhea, Congenital

Congenital Chloride Diarrhoea Finnish Type

Congenital Chloridorrhea

Congenital Secretory Chloride Diarrhoea 1

Chloridorrhea Congenital

Cld

Diarrhea 1 Secretory Chloride Congenital

Diarrhea, Type 1, Chloride, Secretory, Congenital

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Bartter Syndrome, Type 2, Antenatal

Bartter Disease Type 2

BARTS2

Hyperprostaglandin E Syndrome 2

Bartter Syndrome, Type 2

Bartter Syndrome Type 2

Hypokalemic Alkalosis With Hypercalciuria Antenatal 2

Hypokalemic Alkalosis With Hypercalciuria 2, Antenatal

Bartter Syndrome Type 2 Antenatal

Hypokalemic Alkalosis With Hypercalciuria 2 Antenatal

Bartter Syndrome Antenatal Type 2

Bartter Syndrome Type Ii

Bartter Syndrome 2, Antenatal

Abs2

Antenatal Bartter Syndrome 2

Bartter Syndrome 2

Bs2

Hyperprostanglandin E Syndrome 2

Bartter Syndrome, Antenatal , Type 2

Antley-Bixler Syndrome, Autosomal Dominant

Hypocalciuric Hypercalcemia, Familial, Type I

HHC1

Familial Hypocalciuric Hypercalcemia 1

Fhh1

Familial Benign Hypercalcemia 1

Fbh1

Hypocalciuric Hypercalcemia, Type I

Fhh Type 1

Hhc

Fhh

Hypercalcemia, Familial Benign

Hypocalciuric Hypercalcemia Type I

Familial Hypocalciuric Hypercalcemia Type 1

Hypocalciuric Hypercalcemia, Familial, Type 1

Familial Hypocalciuric Hypercalcemia Type I

Familial Benign Hypercalcemia Type 1

Hypercalcemia, Familial Benign Type 1

Hypocalciuric Hypercalcemia, Familial 1

Familial Benign Hypocalciuric Hypercalcemia 1

Fbhh1

Osteomalacia

Adult Rickets

Diabetes Mellitus

Diabetes

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Sensorineural Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Conn'S Syndrome

Cushing Syndrome

Hyperaldosteronism

Primary Hyperaldosteronism

Hypercortisolism

Primary Aldosteronism

Cushing'S Syndrome

Adrenal Gland Hyperfunction

Conn Syndrome

Hyperadrenalism

Ectopic Acth Syndrome

Hyperadrenocorticism

Cushing Disease

Adrenal Cortex Adenoma

Corticotroph Pituitary Adenoma

Cushing'S Disease

Pituitary Corticotroph Micro-Adenoma

Pituitary-Dependent Cushing Syndrome

Pituitary Acth Hypersecretion

Acth Syndrome, Ectopic

Acth-Secreting Pituitary Adenoma

Adrenal Hyperfunction Resulting From Pituitary Acth Excess

Ectopic Adrenocorticotropic Hormone Syndrome

Nodular Primary Adrenocortical Dysplasia

Pituitary Dependent Cushing Syndrome

Pituitary Cushing Syndrome

Pituitary-Dependant Cushing Syndrome

Pituitary-Dependant Hypercortisolism

Pituitary-Dependant Hypercortisolism Disorder

Aldosteronism Primary

Acth Syndrome Ectopic

Adrenal Cushing'S Syndrome

Adrenal Cortical Adenoma

Cushing Syndrome Nos

Cortisol Hypersecretion

Corticoadrenal Hypersecretion

Cushing Syndrome Secondary To Ectopic Acth-Secretion

Ectopic Cushing Syndrome

Hypercortisolism Due To Nonpituitary Tumour

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

Idiopathic Aldosteronism

Aldosteronism

Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

Primary Aldosteronism Due To Adrenal Hyperplasia

Nephrolithiasis, Calcium Oxalate

Kidney Stones

Calculus Of Kidney

Kidney Calculi

Nephrolithiasis

Renal Calculi

Calcium Oxalate Urolithiasis

CAON

Urolithiasis, Calcium Oxalate

Calcium Oxalate Nephrolithiasis

Kidney Stone

Nephrolith

Renal Calculus

Urinary Stones

Renal Stone

Calculus, Kidney

Calculus, Renal

Renal Lithiasis

Renal Stones

Urolithiasis

Renal Calculus Or Stone

Stone In Kidney

Nephritic Calculus

Multiple Kidney Calculi

Multiple Kidney Calculus

Nephrolithiasis Nos

Pelvic Nephrolithiasis

Pelviolithiasis

Pelvis Nephrolithiasis

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia

Nephrocalcinosis

Hypercalcemic Nephropathy

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 CASR VGNC VGNC:26788
Rattus norvegicus CASR RGD RGD:2277
Felis catus CASR VGNC VGNC:60388
Canis familiaris CASR VGNC VGNC:38740
Mus musculus CASR MGD MGI:1351351
Macaca mulatta CASR VGNC VGNC:70550
Others CASR NCBI