1. Gene
  2. NF2 - NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor Gene

NF2 - NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor Gene

中文名称:NF2,moesin-ezrin-radixin 样 (MERLIN) 肿瘤抑制因子

种属: Homo sapiens

同用名: ACN; SCH; BANF; merlin-1

基因 ID: 4771 | 基因类型: protein coding

关于 NF2

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,603,556-29,698,600 (from NCBI)

This gene has 15 transcripts (splice variants), 205 orthologues, 6 paralogues and is associated with 128 phenotypes. Ubiquitous expression in testis (RPKM 5.3), brain (RPKM 5.2) and 25 other tissues.

功能概要

该基因编码的蛋白质类似于 ERM (ezrin、radixin、moesin) 蛋白质家族的一些成员,这些蛋白质将细胞骨架成分与细胞膜中的蛋白质联系起来。编码的蛋白质参与调节细胞增殖的接触依赖性抑制,并在细胞间粘附和跨膜信号传导中发挥作用。编码的蛋白质已被证明与细胞表面蛋白质、参与细胞骨架动力学的蛋白质以及参与调节离子传输的蛋白质相互作用。这种蛋白质功能的破坏与肿瘤发生和转移有关。该基因的突变与 II 型神经纤维瘤病有关,其特征是神经系统和皮肤肿瘤以及眼部异常。[RefSeq 提供,2022 年 5 月]

This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that link cytoskeletal components with proteins in the cell membrane. The encoded protein is involved in regulation of contact-dependent inhibition of cell proliferation and functions in cell-cell adhesion and transmembrane signaling. The encoded protein has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics, and proteins involved in regulating ion transport. Disruption of this protein's function has been implicated in tumorigenesis and metastasis. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. [provided by RefSeq, May 2022]

NF2 基因产物(23)

mRNA Protein Name
NM_000268.4 NP_000259.1 merlin isoform 1
NM_001407053.1 NP_001393982.1 merlin isoform 9
NM_001407054.1 NP_001393983.1 merlin isoform 10
NM_001407055.1 NP_001393984.1 merlin isoform 11
NM_001407056.1 NP_001393985.1 merlin isoform 12
NM_001407057.1 NP_001393986.1 merlin isoform 13
NM_001407058.1 NP_001393987.1 merlin isoform 6
NM_001407059.1 NP_001393988.1 merlin isoform 14
NM_001407060.1 NP_001393989.1 merlin isoform 15
NM_001407062.1 NP_001393991.1 merlin isoform 17
NM_001407063.1 NP_001393992.1 merlin isoform 7
NM_001407064.1 NP_001393993.1 merlin isoform 18
NM_001407065.1 NP_001393994.1 merlin isoform 19
NM_001407066.1 NP_001393995.1 merlin isoform 2
NM_001407067.1 NP_001393996.1 merlin isoform 16
NM_016418.5 NP_057502.2 merlin isoform 2
NM_181825.3 NP_861546.1 merlin isoform 2
NM_181828.3 NP_861966.1 merlin isoform 5
NM_181829.3 NP_861967.1 merlin isoform 6
NM_181830.3 NP_861968.1 merlin isoform 7
NM_181831.3 NP_861969.1 merlin isoform 7
NM_181832.3 NP_861970.1 merlin isoform 2
NM_181833.3 NP_861971.1 merlin isoform 8
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 protein binding IPI
IPI: 通过物理相互作用推断
9430655 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Schwann cell proliferation IMP
IMP: 通过突变表型推断
17353411 GOA
involved in actin cytoskeleton organization IMP
IMP: 通过突变表型推断
9537418 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
12444102 GOA
involved in negative regulation of cell population proliferation IMP
IMP: 通过突变表型推断
17210637 GOA
involved in negative regulation of cell-cell adhesion IDA
IDA: 通过直接分析推断
17210637 GOA
involved in negative regulation of receptor signaling pathway via JAK-STAT IDA
IDA: 通过直接分析推断
12444102 GOA
involved in positive regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
9537418 GOA
involved in regulation of apoptotic process IMP
IMP: 通过突变表型推断
21167305 GOA
involved in regulation of cell cycle IMP
IMP: 通过突变表型推断
21167305 GOA
involved in regulation of hippo signaling IMP
IMP: 通过突变表型推断
20159598 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
9537418 GOA
located in early endosome IDA
IDA: 通过直接分析推断
10861283 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
9537418 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10401006 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
17210637 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10401006 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

NF2 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (29 - 102)

FERM_M

FERM_M: FERM central domain (109 - 222)

FERM_C

FERM_C: FERM C-terminal PH-like domain (226 - 315)

ERM

ERM: Ezrin/radixin/moesin family (347 - 595)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 595 a.a.
蛋白主名 其他名称

merlin

bilateral acoustic neurofibromatosis

关联疾病

疾病名称 别名
Neurofibromatosis, Type Ii

Neurofibromatosis 2

Neurofibromatosis, Type 2

NF2

Neurofibromatosis Type Ii

Bilateral Acoustic Neurofibromatosis

Banf

Acn

Central Neurofibromatosis

Neurofibromatosis, Central Type

Acoustic Schwannomas, Bilateral

Acoustic Neurinoma, Bilateral

Bilateral Acoustic Neurinoma

Bilateral Acoustic Schwannomas

Familial Acoustic Neuromas

Acoustic Neuroma

Neurofibromatosis Type 2

Vestibular Schwannoma

Acoustic Neurinoma

Bilateral Acoustic Neurofibromatosis

Nf2

Acoustic Neurilemoma

Cerebellopontine Angle Tumor

Neurofibromatosis Central Type

Neurofibromatosis Type Ii

Vestibular Neurilemmoma

Acoustic Tumor

Neurinoma Of The Acoustic Nerve

Acoustic Neurinoma Bilateral

Acoustic Schwannomas Bilateral

Banf

Central Neurofibromatosis

Familial Acoustic Neuromas

Neurofibromatosis 2

Neurofibromatosis Type 2 Merlin

Schwannoma, Acoustic, Bilateral

Neuroma Acoustic

Neuroma, Acoustic

Familial Acoustic Neuroma

Familial Vestibular Schwannoma

Neurofibromatosis, Central Type

Nf2 - [Neurofibromatosis Type 2]

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

Schwannomatosis 1

SWNTS1

Schwannomatosis-1, Susceptibility To

Schwannomatosis, Somatic

Neurilemmomatosis, Congenital Cutaneous

Schwannomatosis-1

Congenital Cutaneous Neurilemmomatosis

Schwannomatosis

Neurilemmomatosis

Schwannomatosis

Neurofibromatosis Type 3

Nf3

Neurilemmomatosis Congenital Cutaneous

Neurinomatosis

Congenital Cutaneous Neurilemmomatosis

Multiple Neurilemmomas

Multiple Schwannomas

Neurilemmomatosis, Congenital Cutaneous

Schwannomatosis 1

Neurofibromatosis 3

Mixed Central And Peripheral Neurofibromatosis

Nf3 - [Neurofibromatosis Type 3]

Spindle Cell Sarcoma

Sarcoma

Sarcoma Spindle Cell

Sarcoma, Spindle Cell

Sarcoma - Category

Neurofibromatosis

Neurofibromatoses

Acoustic Neurofibromatosis

Central Neurofibromatosis

Peripheral Neurofibromatosis

Recklinghausen'S Neurofibromatosis

Von Reklinghausen Disease

Neurofibromatosis Type 1

Benign Meningioma

Meningioma, Benign

Tanycytic Ependymoma
Clear Cell Ependymoma

Cellular Ependymoma

Papillary Ependymoma

Ependymoma Papillary

Malignant Peripheral Nerve Sheath Tumor

Mpnst

Malignant Neurilemmoma

Neurofibrosarcoma

Malignant Neurofibroma

Malignant Schwannoma

Neurogenic Sarcoma

Schwannoma, Malignant

Malignant Neoplasm Of The Peripheral Nerve Sheath

Malignant Peripheral Nerve Sheath Tumors

Neurofibroma

Neurofibromas

Neurofibromatoses

Nerve Sheath Tumors

High Grade Ependymoma

Ependymal Neoplasm

Ependymal Tumors

Malignant Ependymoma

Ependymal Tumor

Anaplastic Ependymoma

Experimental Organism Malignant Ependymoma

Ependymoma Of Brain

Cellular Ependymoma

Ependymoma

Classic Ependymoma

Papillary Ependymoma

Tanycytic Ependymoma

Clear Cell Ependymoma

Ependymoma, Familial

Epithelial Ependymoma

Who Grade Ii Ependymal Neoplasm

Transitional Meningioma

Transitional Meningioma

Neurilemmoma

Schwannoma

Benign Schwannoma

Neurilemoma

Peripheral Fibroblastoma

Psammomatous Schwannoma

Neurolemmoma

Schwannomas

Fibrous Meningioma

Fibroblastic Meningioma

Spinal Cord Ependymoma

Ependymal Neoplasm Of The Spinal Cord

Spinal Ependymoma

Ependymoma Of Spinal Cord

Neuroma
Neurofibrosarcoma

Neurosarcoma

Malignant Peripheral Nerve Sheath Tumor

Anaplastic Ependymoma

Ependymoma, Anaplastic

Undifferentiated Ependymoma

Meningothelial Meningioma

Meningotheliomatous Meningioma

Neurilemmoma Of The Fifth Cranial Nerve

Trigeminal Schwannoma

Trigeminal Neurilemmoma

Trigeminal Nerve Neoplasm

Neoplasm Of Trigeminal Nerve

Tumor Of Trigeminal Nerve

Optic Nerve Sheath Meningioma

Meningioma Of Optic Nerve Sheath

Mesothelioma, Malignant

Malignant Mesothelioma

Pleural Mesothelioma

MESOM

Mesothelioma, Somatic

Advanced Malignant Mesothelioma

Asbestos-Related Malignant Mesothelioma

Diffuse Malignant Mesothelioma

Malignant Tumor Of Mesothelium

Malignant Mesothelioma, Susceptibility To

Mesothelioma Diffuse Malignant

Mesothelioma

Malignant Pleural Mesothelioma

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

Malignant Pleural Mesothelioma

Malignant Mesothelioma Of Pleura

Pleural Malignant Mesothelioma

Spinal Cord Glioma

Glial Tumor Of Spinal Cord

Glial Neoplasm Spinal Cord

Glioma Of Spinal Cord

Schwannoma Of Twelfth Cranial Nerve

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve

Hypoglossal Nerve Disease

Hypoglossal Nerve Diseases

Disorder Of 12th Nerve

Disorder Of Hypoglossal [12th] Nerve

Disorder Of Hypoglossal Nerve

Disorder Of Xii Nerve

Disorders Of The Twelfth Cranial Nerve

Disorders Of 12th Cranial Nerve

Cerebellopontine Angle Tumor

Cerebellopontine Angle Tumour

Neoplasm Of The Cerebellopontine Angle

Brain Meningioma

Intracranial Meningioma

Intraventricular Meningioma
Chordoid Meningioma

Meningioma, Chordoid

Cerebral Convexity Meningioma

Cerebral Hemispheric Convexity Meningioma

Intraorbital Meningioma
Parasagittal Meningioma
Psammomatous Meningioma
Sphenoorbital Meningioma
Spinal Cancer

Spinal Cord Neoplasm

Spinal Cord Neoplasms

Spinal Neoplasms

Intraspinal Tumor

Malignant Tumor Of The Spinal Cord

Spinal Cord Cancer

Spinal Neoplasm

Tumor Of The Spinal Cord

Tumors Spinal Cord

Intraspinal Neoplasm

Spinal Cord--Cancer

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Childhood Meningioma

Pediatric Meningioma

Plexiform Schwannoma

Plexiform Neurilemmoma

Plexiform Neurinoma

Supratentorial Meningioma
Osteoblastoma
Skull Base Cancer

Tumors Of Skull Base

Skull Base Neoplasms

Skull Base Meningioma

Meningioma Of The Skull Base

Peripheral Nerve Schwannoma
Clear Cell Meningioma
Optic Nerve Neoplasm

Optic Nerve Neoplasms

Neoplasm Of Optic Nerve

Tumor Of Second Cranial Nerve

Tumour Of Optic Nerve

Intracranial Meningioma

Meningioma

Anterior Cranial Fossa Meningioma

Meningioma Of The Anterior Fossa

Olfactory Groove Meningioma

Meningioma Of The Olfactory Groove

Angiomatous Meningioma
Central Nervous System Fibrosarcoma

Fibrosarcoma Of The Cns

Foramen Magnum Meningioma

Meningioma Of The Foramen Magnum

Benign Mesothelioma

Mesothelioma

Benign Tumor Of Mesothelium

Adenomatoid Tumor

Cerebral Falx Meningioma

Falcine Meningioma

Falx Cerebri Meningioma

Cellular Schwannoma

Cellular Neurinoma

Glossopharyngeal Nerve Disease

Ninth Cranial Nerve Disease

Glossopharyngeal Nerve Diseases

Disorders Of The Ninth Cranial Nerve

Disorders Of 9th Cranial Nerve

Plexiform Neurofibroma

Neurofibroma Plexiform

Neurofibroma, Plexiform

Suprasellar Meningioma
Cranial Nerve Malignant Neoplasm

Cranial Nerve Neoplasms

Malignant Neoplasm Of Cranial Nerve

Malignant Tumor Of Cranial Nerve

Malignant Tumor Of The Cranial Nerve

Intraneural Perineurioma
Cavernous Sinus Meningioma

Meningioma Of The Cavernous Sinus

Purulent Labyrinthitis

Suppurative Labyrinthitis

Acute Suppurative Labyrinthitis

Bacterial Labyrinthitis

Optic Nerve Glioma

Glioma Of The Optic Nerve

Facial Paralysis

Facial Palsy

Bell Palsy

Facial Nerve Disease

Facial Nerve Disorder

Facial Nerve Diseases

Neuropathy Of Facial Nerve

Disorders Of 7th Cranial Nerve

Disorders Of The Seventh Cranial Nerve

Lung Meningioma

Lung Primary Meningioma

Primary Pulmonary Meningioma

Pulmonary Meningioma

Primary Lung Meningioma

Small Intestine Leiomyoma

Leiomyoma, Small Bowel

Leiomyoma Of Small Intestine

Secretory Meningioma

Meningioma

Epidural Spinal Canal Neoplasm

Extradural Tumor

Epidural Neoplasms

Epidural Neoplasm

Rhabdoid Meningioma

Papillary Meningioma

Meningioma, Rhabdoid

Peritoneal Mesothelioma

Malignant Mesothelioma Of Peritoneum

Advanced Malignant Mesothelioma Of Peritoneum

Advanced Malignant Peritoneal Mesothelioma

Advanced Peritoneal Malignant Mesothelioma

Microcystic Meningioma
Tuberous Sclerosis

Tuberous Sclerosis Syndrome

Bourneville'S Disease

Epiloia

Cerebral Sclerosis

Tuberose Sclerosis

Tuberous Sclerosis 1

Bourneville Disease

Bourneville Phakomatosis

Pringle'S Disease

Cerebrum Cancer

Cerebral Cancer

Neoplasm Of Cerebrum

Tumor Of Cerebrum

Malignant Neoplasm Of Cerebrum

Cerebral Ventricle Cancer

Cerebral Ventricle Neoplasms

Cerebral Ventricle Neoplasm

Intraventricular Tumor Of Brain

Cerebral Meningioma

Meningioma Of Cerebrum

Tuberculum Sellae Meningioma

Meningioma Of The Tuberculum Sellae

Sella Turcica Neoplasm

Tumor Of Sella Turcica

Peritoneum Cancer

Peritoneal Neoplasm

Cancer Of Peritoneum

Malignant Tumor Of Peritoneum

Peritoneal Neoplasms

Melanotic Neurilemmoma

Melanotic Schwannoma

Pigmented Neurilemmoma

Pigmented Schwannoma

Myxopapillary Ependymoma

Ependymoma Myxopapillary

Supratentorial Cancer

Supratentorial Neoplasms

Brain Neoplasm, Supratentorial

Malignant Supratentorial Tumor

Cancer, Supratentorial

Epithelioid Neurofibroma
Orbital Cancer

Malignant Neoplasm Of Orbit

Orbital Tumor

Orbital Neoplasms

Neoplasm Of Orbit Proper

Orbit Cancer

Primary Malignant Neoplasm Of Orbit

Intraorbital Cancer

Sarcomatoid Renal Cell Carcinoma

Renal Cell Carcinoma, Spindle Cell

Frontal Convexity Meningioma
Cerebellopontine Angle Meningioma

Meningioma Of The Cerebellar Pontine Angle

Posterior Pituitary Gland Neoplasm

Posterior Pituitary Tumor

Neoplasm Of The Posterior Pituitary

Benign Ependymoma

Ependymoma

Epithelial Ependymoma

Who Grade Ii Ependymal Tumor

Myxopapillary Ependymoma

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

Perineurioma

Soft Tissue Perineurioma

Meninges Hemangiopericytoma

Hemangiopericytoma Of Meninges

Meningeal Hemangiopericytoma

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

Atypical Neurofibroma
Pleural Cancer

Pleural Neoplasms

Neoplasm Of Pleura

Pleural Tumor

Malignant Tumor Of Pleura

Pleural Cavity Cancer

Primary Malignant Neoplasm Of Parietal Pleura

Primary Malignant Neoplasm Of Pleura

Primary Malignant Neoplasm Of Visceral Pleura

Sarcomatoid Mesothelioma

Malignant Fibrous Mesothelioma

Spindled Mesothelioma

Pineal Region Meningioma

Pineal Meningioma

Sveinsson Chorioretinal Atrophy

SCRA

Atrophia Areata

Helicoid Peripapillary Chorioretinal Degeneration

Hpcd

Aa

Peripapillary Chorioretinal Degeneration, Icelandic Type

Helicoidal Peripapillary Chorioretinal Degeneration

Atrophy, Chorioretinal, Sveinsson

Spinal Cord Astrocytoma

Astrocytoma Of Spinal Cord

Spinal Astrocytoma

Tinea Capitis

Dermatophytosis Of Scalp

Scalp Ringworm

Dermatophytosis Of Scalp Or Beard

Tinea Capitis Due To Trichophyton Rubrum

Trichophyton Rubrum Tinea Capitis

Petroclival Meningioma
Labyrinthitis

Labyrinthine Disorder

Inner Ear Inflammation

Otitis Interna

Labyrinth Hyperaemia

Supratentorial Ependymoma
Cranial Nerve Palsy

Cranial Nerve Paralysis

Cranial Nerve Diseases

Cranial Nerve Palsies

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Atypical Teratoid Rhabdoid Tumor

Rhabdoid Tumor Predisposition Syndrome

Rtps

Atypical Teratoid/Rhabdoid Tumor

Rhabdoid Predisposition Syndrome

Familial Posterior Fossa Brain Tumor Of Infancy

Familial Rhabdoid Tumor

At/Rt

Atypical Teratoid Rhabdoid Tumour

Atypical Teratoid/Rhabdoid Tumour

Rhabdoid Tumor Of The Cns

Rhabdoid Tumour Of The Cns

Familial Posterior Fossa Brain Tumor Syndrome

Hereditary Swi/Snf Deficiency Syndrome

Atrt

Sturge-Weber Syndrome

SWS

Encephalotrigeminal Angiomatosis

Encephalofacial Angiomatosis

Sturge-Weber-Dimitri Syndrome

Sturge-Weber-Krabbe Syndrome

Fourth Phacomatosis

Leptomeningeal Angiomatosis

Meningeal Capillary Angiomatosis

Sturge-Weber-Krabbe Angiomatosis

Sturge-Weber Syndrome, Somatic, Mosaic

Sws Type I - Facial And Leptomeningeal Angiomas

Sws Type Ii - Facial Angioma Alone, No Cns Involvement

Sws Type Iii - Isolated Leptomeningeal Angiomas

Sturge Weber Syndrome

Angiomatosis Aculoorbital-Thalamic Syndrome

Encephalofacial Hemangiomatosis

Encephalofacial Hemangiomatosis Syndrome

Meningo-Oculo-Facial Angiomatosis

Meningofacial Angiomatosis-Cerebral Calcification Syndrome

Neuroretinoangiomatosis

Phakomatosis, Sturge-Weber

Weber-Sturge-Dimitri Syndrome

Obstructive Hydrocephalus
Rete Ovarii Benign Neoplasm
Rete Ovarii Adenoma

Adenoma Of Rete Ovarii

Central Nervous System Benign Neoplasm

Benign Neoplasm Of The Central Nervous System

Polyp Of Corpus Uteri

Endometrial/Uterine Polyp

Polyp Of Endometrium

Polyp Of The Uterus

Polyp, Uterus

Pleural Disease

Pleural Diseases

Disorder Of Pleura

Non-Neoplastic Pleural Disease

Pleural Disorders

Non-Neoplastic Pleural Disorder

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

Peripheral Nervous System Neoplasm

Peripheral Nervous System Neoplasms

Nerve Sheath Neoplasm

Neoplasm Of Peripheral Nerve

Tumor Of Pns

Nerve Sheath Neoplasms

Nerve Sheath Tumors

Spinal Cord Disease

Spinal Cord Diseases

Myelopathy

Bone Marrow Diseases

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome

Sarcoid Meningitis

Meningitis In Sarcoidosis

Intellectual Developmental Disorder, Autosomal Dominant 1

MRD1

Autosomal Dominant Non-Syndromic Intellectual Disability 1

Mental Retardation, Autosomal Dominant 1

Autosomal Dominant Intellectual Developmental Disorder 1

Petrous Apex Meningioma

Meningioma Of The Petrous Ridge

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Salpingitis Isthmica Nodosa
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

Otosclerosis

Otospongiosis

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

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

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Rattus norvegicus NF2 RGD RGD:3169
Macaca mulatta NF2 VGNC VGNC:75324
Bos taurus NF2 VGNC VGNC:32026
Felis catus NF2 VGNC VGNC:80460
Canis familiaris NF2 VGNC VGNC:43762
Mus musculus NF2 MGD MGI:97307
Macaca fascicularis NF2 NCBI NCBI:102139594
Others NF2 NCBI