1. Gene
  2. ATM - ATM serine/threonine kinase Gene

ATM - ATM serine/threonine kinase Gene

Homo sapiens

Also known as AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1

Gene ID: 472 | Gene type: protein coding

About ATM

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:108,223,067-108,369,102 (from NCBI)

This gene has 53 transcripts (splice variants), 226 orthologues, 5 paralogues and is associated with 198 phenotypes. Ubiquitous expression in lymph node (RPKM 15.4), spleen (RPKM 9.5) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase Chk2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]

ATM Products(20)

mRNA Protein Name
XM_011542844.4 XP_011541146.1 serine-protein kinase ATM isoform X4
NM_138293.1
NM_001351834.2 NP_001338763.1 serine-protein kinase ATM isoform a
NM_001351835.2 NP_001338764.1 serine-protein kinase ATM isoform b
XM_006718845.3 XP_006718908.1 serine-protein kinase ATM isoform X5
XM_047426981.1 XP_047282937.1 serine-protein kinase ATM isoform X6
NM_138292.3
XM_047426975.1 XP_047282931.1 serine-protein kinase ATM isoform X1
XM_011542840.4 XP_011541142.1 serine-protein kinase ATM isoform X1
XM_047426976.1 XP_047282932.1 serine-protein kinase ATM isoform X1
XM_011542843.3 XP_011541145.1 serine-protein kinase ATM isoform X3
XM_047426978.1 XP_047282934.1 serine-protein kinase ATM isoform X2
XM_006718843.5 XP_006718906.1 serine-protein kinase ATM isoform X1
XM_005271562.6 XP_005271619.2 serine-protein kinase ATM isoform X1
XM_047426977.1 XP_047282933.1 serine-protein kinase ATM isoform X2
XM_047426979.1 XP_047282935.1 serine-protein kinase ATM isoform X2
XM_017017790.3 XP_016873279.1 serine-protein kinase ATM isoform X1
NM_000051.4 NP_000042.3 serine-protein kinase ATM isoform a
XM_011542842.4 XP_011541144.1 serine-protein kinase ATM isoform X2
NM_001351836.2 NP_001338765.1 serine-protein kinase ATM isoform b

ATM Protein Structure

TAN

TAN: Telomere-length maintenance and DNA damage repair (7 - 165)

FAT

FAT: FAT domain (2097 - 2488)

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (2714 - 2961)

FATC

FATC: FATC domain (3025 - 3055)

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  • 3056 a.a.
Protein Preferred Names Protein Names

serine-protein kinase ATM

A-T mutated

AT mutated

TEL1, telomere maintenance 1, homolog

ataxia telangiectasia mutated

serine/threonine kinase ATM

Related Diseases

Diseases Alias
Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma

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

Cowden Syndrome 1

Pten Hamartoma Tumor Syndrome

Bannayan-Riley-Ruvalcaba 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

Lhermitte-Duclos Syndrome

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Seckel Syndrome 1

SCKL1

Nanocephalic Dwarfism

Microcephalic Primordial Dwarfism I

Seckel-Type Dwarfism

Bird-Headed Dwarfism

Sckl

Seckel Syndrome, Type 1

Seckel Syndrome

Physical Disorder

Physical Illness

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Diabetes Mellitus, Non-Insulin-Dependent

Type 2 Diabetes

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

Aneurysm, Intracranial Berry, 12

ANIB12

Intracranial Berry Aneurysm 12

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

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

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Leukemia, Myeloid, Acute

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

T-Cell Prolymphocytic Leukemia

T Cell Prolymphocytic Leukemia

Prolymphocytic Leukemia, T-Cell Type

T-Pll

T-Cell Chronic Lymphocytic Leukemia

Lymphocytic Leukemia T-Cell Chronic

Doid:0081042

Leukemia, T-Cell, Chronic

Prolymphocytic Leukaemia Of T-Cell Type Without Mention Of Remission

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome

Mantle Cell Lymphoma

Lymphoma, Mantle Cell

Lcm

Mcl

Mantle Zone Lymphoma

Lymphoma Mantle-Cell

Lymphoma, Mantle-Cell

Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

Malignant Lymphoma - Lymphocytic, Intermediate Differentiation

Diffuse Small Cleaved-Cell Lymphoma

Diffuse Small Cleaved Cell Malignant Lymphoma

Small Cleaved Cell Non-Hodgkin Lymphoma

Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma

Malignant Lymphomatous Polyposis

Malignant Small Cell, Noncleaved, Diffuse Lymphoma

Malignant Undifferentiated Cell, Non-Burkitt Lymphoma

Cleaved Cell Lymphoma

Small Cell Mantle Cell Lymphoma

Small Cleaved Cell Malignant Lymphoma

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

Chromosome 13q14 Deletion Syndrome

Chromosome 13q Deletion Syndrome

Deletion 13q14

Chromosome 13q Deletion

13q Deletion

13q Monosomy

Deletion 13q

Monosomy 13q

Monosomy 13q14

Del(13)(Q14)

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

High Grade Glioma

Malignant Glioma

Glial Cell Tumor

Glioma, Malignant

Malignant Neuroglial Tumor

Neuroglial Tumor

Glioma

Malignant Gliomas

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Bladder

Transitional Cell Carcinoma Of The Bladder

Urinary Bladder Urothelial Carcinoma

Urothelial Bladder Carcinoma

Carcinoma Transitional Cell Bladder

Tcc - [Transitional Cell Carcinoma] Of Bladder

Polycythemia Vera

PV

Polycythemia Rubra Vera

Prv

Osler-Vaquez Disease

Chronic Erythremia

Polycythaemia Rubra Vera

Primary Polycythemia

Vaquez Disease

Polycythemia Vera, Somatic

Osler-Vaquez Syndrome

Proliferative Polycythaemia

Polycythemia Ruba Vera

Acquired Primary Erythrocytosis

Heilmeyer-Schoner Disease

Vaquez Osler Disease

Primary Polycythaemia

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Sporadic Breast Cancer

Sporadic Breast Carcinoma

Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Diffuse Gastric And Lobular Breast Cancer Syndrome

Hereditary Diffuse Gastric Cancer

HDGC

LBC

Familial Diffuse Gastric Cancer

Fdgc

Hereditary Diffuse Gastric Adenocarcinoma

Breast Cancer, Lobular

Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

DGLBC

Gastric Cancer, Hereditary Diffuse

Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

E-Cadherin-Associated Hereditary Gastric Cancer

Familial Diffuse Cancer Of Stomach

Hereditary Diffuse Cancer Of Stomach

Gastric Cancer Familial Diffuse

Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

Cancer, Gastric, Hereditary Diffuse

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Richter'S Syndrome

Richter Syndrome

Richter Transformation

Cerebellar Degeneration
Prolymphocytic Leukemia

Pll

Prolymphocytic Leukaemia

Leukemia Prolymphocytic

Leukemia, Prolymphocytic

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Peripheral Vascular Disease

Peripheral Arterial Disease

Arterial Occlusive Disease

Arterial Occlusive Diseases

Pad

Peripheral Vascular Diseases

Peripheral Occlusive Disease

Peripheral Arterial Diseases

Helicobacter Infections

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

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

Giant Cell Glioblastoma

Monstrocellular Sarcoma

Hypertrophy Of Breast

Breasts Enlarged

Large Breast

Hypertrophy Of Breast Nos

Hypertrophy Of Male Breast

Hypertrophic Breast

Excessive Development Of Breast

Macromastia

Mastoplastia

Bartholin'S Gland Adenoid Cystic Carcinoma

Bartholin Gland Adenoid Cystic Carcinoma

Hematologic Cancer

Hematologic Neoplasm

Hematologic Malignancies

Hematologic Neoplasms

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of 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

Cancer 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

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm 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

Cancer Of The Pancreas

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

Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

CMM1

Melanoma, Cutaneous Malignant

Cmm

Melanoma, Malignant

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

De Sanctis-Cacchione Syndrome

Xp

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Telangiectasis

Telangiectasia

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Autosomal Recessive Cerebellar Ataxia

Arca

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Xeroderma Pigmentosum, Complementation Group A

Xeroderma Pigmentosum Group A

Xp1

Xeroderma Pigmentosum, Group A

XPA

Xeroderma Pigmentosum I

Xeroderma Pigmentosum Complementation Group A

Xp Group A

Xp, Group A

Xeroderma Pigmentosum 1

Xeroderma Pigmentosum, Type 1

XP-A

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Dysplastic Nevus Syndrome

Familial Atypical Multiple Mole-Melanoma

Familial Atypical Multiple Mole Melanoma Syndrome

Melanoma-Pancreatic Cancer Syndrome

Famm Syndrome

B-K Mole Syndrome

Famm-Pc Syndrome

Fammm Syndrome

Familial Atypical Mole Syndrome

Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome

Familial Dysplastic Nevus Syndrome

Familial Atypical Multiple Mole Melanoma

Dysplastic Nevus

Familial Atypical Mole Melanoma Syndrome

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

Autosomal Recessive Disease

Autosomal Recessive Disorder

Meier-Gorlin Syndrome 4

MGORS4

Meier-Gorlin Syndrome, Type 4

Diffuse Gastric Cancer

Hereditary Diffuse Gastric Adenocarcinoma

Hereditary Diffuse Gastric Cancer

Signet Cell Adenocarcinoma

Signet Ring Cell Carcinoma

Signet Ring Cell Gastric Carcinoma

Signet Ring Gastric Carcinoma

Fdgc

Familial Diffuse Cancer Of Stomach

Familial Diffuse Gastric Cancer

Gastric Cancer, Familial Diffuse

Gastric Cancer, Hereditary Diffuse

Hdgc

Hereditary Diffuse Cancer Of Stomach

Diffuse Gastric Cancer Syndrome

Cancer, Gastric, Diffuse

Carcinoma, Signet Ring Cell

Gastric Signet Ring Carcinoma

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2

Aoa2

Ataxia With Oculomotor Apraxia Type 2

Scar1

SCAN2

Ataxia-Oculomotor Apraxia 2

Ataxia-Ocular Apraxia 2

Ataxia-Oculomotor Apraxia Type 2

Scan 2

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

Scar1, Formerly

Autosomal Recessive Spinocerebellar Ataxia-1

Spinocerebellar Ataxia, Autosomal Recessive, 1

Ataxia-Ocular Apraxia-2

Spinocerebellar Ataxia, Autosomal Recessive 1

B-Cell Non-Hodgkin Lymphoma

B-Cell Nhl

B-Cell Non-Hodgkins Lymphoma

Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

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

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Scan1

Spinocerebellar Ataxia With Axonal Neuropathy Type 1

Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy

Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy

Spinocerebellar Ataxia With Axonal Neuropathy

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy

Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Myeloma, Multiple

Multiple Myeloma

Kahler Disease

Myelomatosis

Plasma Cell Myeloma

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler'S Disease

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Oculomotor Apraxia
Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Plasma Cell Neoplasm

Plasma Cell Dyscrasia

Paraproteinemias

Plasma Cell Tumour

Plasmacytic Tumor

Multiple Myeloma

Plasmacytoma

Plasma Cell Tumours

Plasma Cells Dyscrasia

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Proctitis

Ulcerative Proctitis

Chronic Ulcerative Proctitis

Idiopathic Proctitis

Nonspecific Ulcerative Proctitis

Ulcerative Colitis Confined To Rectum

Ip - [Idiopathic Proctitis]

Chronic Ulcerative Proctitis Nos

Leukemia, Chronic Lymphocytic 2

Leukemia, Chronic Lymphocytic, Susceptibility To, 2

B-Cell Malignancy, Low-Grade

Clls2

Disrupted In B-Cell Malignancy

Dbm

Leukemia, Chronic Lymphocytic, B-Cell

Bcll

Lymphocytic Leukemia Chronic B-Cell

Chronic Lymphocytic Leukemia

Chronic Lymph Leukaemia

Chronic Lymphatic Leukaemia

Chronic Lymphocytic Leukaemia

Chronic Lymphoid Leukaemia

Lymphoplasmacytic Leukaemia

Neurofibroma

Neurofibromas

Neurofibromatoses

Nerve Sheath Tumors

Lynch Syndrome I

Lynch Syndrome 1

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

HNPCC1

Fcc1

Lynch Syndrome Ii

Colon Cancer, Familial Nonpolyposis, Type 1

Coca1

Familial Nonpolyposis Colon Cancer Type 1

Hereditary Nonpolyposis Colorectal Cancer Type 1

Hereditary Non-Polyposis Colorectal Cancer 1

Hereditary Non-Polyposis Colorectal Cancer 3

Hnpcc3

Lynch Cancer Family Syndrome

Lynch Syndrome

Lynch Syndrome Type I

Lynch Syndrome Type Ii

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1

Hereditary Nonpolyposis Colorectal Cancer

Colorectal Cancer, Hereditary Nonpolyposis, Type 3

Hereditary Non-Polyposis Colon Cancer Type 2

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Protection Against

Lung Cancer, Susceptibility To

Adenocarcinoma Of Lung, Somatic

Nonsmall Cell Lung Cancer

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

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

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Rhabdomyosarcoma
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

Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency Disease

Primary Immunodeficiency

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Maxillary Sinus Adenocarcinoma

Adenocarcinoma Of Maxillary Sinus

Adenocarcinoma Of The Maxillary Sinus

Bloom Syndrome

BLM

Bs

Bls

Bloom-Torre-Machacek Syndrome

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

Mgrisce1

Congenital Telangiectatic Erythema

Congenital Telangiectatic Erythema Syndrome

Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

Bloom'S Syndrome

Bsyn

Diamond-Blackfan Anemia 11

DBA11

Rpl26-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 11

Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome

Rts

RTS2

Poikiloderma Of Rothmund-Thomson

Rothmund-Thomson Syndrome Type 2

Congenital Poikiloderma

Poikiloderma Congenitale

Poikiloderma Atrophicans And Cataract

Poikiloderma Congenitale Of Rothmund-Thomson

Poikiloderma Of Rothmund-Thomson Type 2

Rothmund-Thomson Syndrome 2

Erythrokeratodermia Variabilis

Acute Anterolateral Myocardial Infarction

Acute Myocardial Infarction Of Anterolateral Wall

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

Lig4 Syndrome

Dna Ligase Iv Deficiency

Ligase 4 Syndrome

LIG4S

Blepharophimosis
Familial Ovarian Cancer

Familial Ovarian Carcinoma

Familial Ovarian Malignant Tumor

Lymphoma, Hodgkin, Classic

Hodgkin Lymphoma

Hodgkin Disease

Hodgkin'S Lymphoma

Hodgkins Lymphoma

Classic Hodgkin Lymphoma

CHL

Hodgkin Lymphoma, Susceptibility To

Hl

Hodgkin'S Sarcoma

Stage I Subdiaphragmatic Hodgkin Lymphoma

Stage Ii Subdiaphragmatic Hodgkin Lymphoma

Lymphoma, Hodgkin'S

Classic Hodgkin Disease

Hodgkin'S Disease

Lymphoma, Hodgkin, Susceptibility To

Hodgkin'S Disease Of Intrapelvic Lymph Nodes

Hodgkin'S Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb

Malignant Lymphogranuloma

Malignant Lymphogranulomatosis

Malignant Hodgkin Lymphoma

Classical Hodgkin Lymphoma, Type Not Specified

Endometrial Serous Adenocarcinoma

Uterine Corpus Serous Adenocarcinoma

Uterine Papillary Serous Carcinoma

Uterine Serous Carcinoma

Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia

Aoa1

Ataxia-Telangiectasia-Like Disorder

EAOH

Eoca-Ha

Ataxia With Oculomotor Apraxia Type 1

Ataxia-Oculomotor Apraxia 1

Ataxia-Oculomotor Apraxia Syndrome

AOA

Ataxia-Telangiectasia-Like Syndrome

Ataxia-Oculomotor Apraxia Type 1

Ataxia With Oculomotor Apraxia

Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia

Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia

Early-Onset Cerebellar Ataxia With Hypoalbuminemia

Adult Onset Ataxia With Oculomotor Apraxia

Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia

Scan2

Scar1

Spinocerebellar Ataxia With Axonal Neuropathy Type 2

Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

Atld

Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia

Cerebellar Ataxia Early-Onset With Hypoalbuminemia

Ataxia-Oculomotor Apraxia

Spinocerebellar Ataxia, Autosomal Recessive 1

Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos

Bilateral Breast Cancer

Bilateral Breast Carcinoma

Mediastinum Liposarcoma

Liposarcoma Of Mediastinum

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Mismatch Repair Cancer Syndrome

Turcot Syndrome

Brain Tumor-Polyposis Syndrome 1

Btp1 Syndrome

Btps1

Childhood Cancer Syndrome

Cmmr-D Syndrome

Cmmrds

Constitutional Mismatch Repair Deficiency Syndrome

Mmr Deficiency

Cancer Syndrome, Mismatch Repair

Malignant Childhood Neoplasm

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Uterine Corpus Endometrial Carcinoma
Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

Severe Combined Immunodeficiency, Athabascan Type

Severe Combined Immunodeficiency Due To Dclre1c Deficiency

Rs-Scid

Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation

Scid Due To Artemis Deficiency

Scid Due To Dclre1c Deficiency

Scid, Athabascan Type

Scid, Athabaskan Type

Severe Combined Immunodeficiency Due To Artemis Deficiency

Severe Combined Immunodeficiency, Athabaskan Type

SCIDA

Severe Combined Immunodeficiency, Athabascan-Type

Artemis Deficiency

Severe Combined Immunodeficiency Athabaskan Type

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation

RSSCID

Athabascan Scid

Immunodeficiency, Severe Combined, Athabascan Type

Severe Combined Immunodeficiency, Athabaskan-Type

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Common Variable Immunodeficiency

Cvid

Common Variable Agammaglobulinemia

Acquired Hypogammaglobulinemia

Common Variable Immune Deficiency

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

Autosomal Genetic Disease

Autosomal Hereditary Disorder

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

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

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Desmoplastic/Nodular Medulloblastoma

Medulloblastoma With Extensive Nodularity

Desmoplastic Medulloblastoma

Medulloblastoma, Somatic

Medulloblastoma, Desmoplastic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Mben

Medulloblastoma Desmoplastic

Neuroectodermal Tumors, Primitive

Medulloblastomas

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Synchronous Bilateral Breast Carcinoma
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

Tumor Predisposition Syndrome

TPDS

Tumor Predisposition

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Mus musculus ATM MGD MGI:107202
Felis catus ATM VGNC VGNC:68536
Bos taurus ATM VGNC VGNC:26268
Canis familiaris ATM VGNC VGNC:38233
Macaca mulatta ATM VGNC VGNC:70173
Rattus norvegicus ATM RGD RGD:1593265