ATM - ATM serine/threonine kinase Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 472

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 1-phosphatidylinositol-3-kinase activity	IMP IMP: Inferred from mutant phenotype	11375976	GOA
enables DNA-dependent protein kinase activity	IDA IDA: Inferred from direct assay	15790808	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	15790808	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9168117	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	9733515	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	15790808	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage checkpoint signaling	IDA IDA: Inferred from direct assay	30886146	GOA
involved in DNA damage response	IDA IDA: Inferred from direct assay	9733515	GOA
acts upstream of or within DNA damage response	IMP IMP: Inferred from mutant phenotype	24550317	GOA
involved in DNA damage response	IMP IMP: Inferred from mutant phenotype	15790808	GOA
involved in DNA double-strand break processing	IDA IDA: Inferred from direct assay	10802669	GOA
involved in cellular response to X-ray	IDA IDA: Inferred from direct assay	26323318	GOA
involved in cellular response to gamma radiation	IDA IDA: Inferred from direct assay	9925639	GOA
involved in cellular response to nitrosative stress	IDA IDA: Inferred from direct assay	23878245	GOA
involved in cellular response to reactive oxygen species	IDA IDA: Inferred from direct assay	26344566	GOA
involved in cellular response to stress	IDA IDA: Inferred from direct assay	37943659	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	26240375	GOA
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	10802669	GOA
involved in establishment of RNA localization to telomere	IMP IMP: Inferred from mutant phenotype	26586433	GOA
involved in establishment of protein-containing complex localization to telomere	IMP IMP: Inferred from mutant phenotype	26586433	GOA
involved in histone mRNA catabolic process	IDA IDA: Inferred from direct assay	16086026	GOA
involved in mitotic G2 DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	15149599	GOA
involved in mitotic spindle assembly checkpoint signaling	IMP IMP: Inferred from mutant phenotype	11943150	GOA
involved in negative regulation of B cell proliferation	IMP IMP: Inferred from mutant phenotype	17875758	GOA
involved in negative regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	23878245	GOA
involved in negative regulation of telomere capping	IMP IMP: Inferred from mutant phenotype	17694070	GOA
acts upstream of or within peptidyl-serine autophosphorylation	IMP IMP: Inferred from mutant phenotype	24550317	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	9733515	GOA
involved in pexophagy	IDA IDA: Inferred from direct assay	26344566	GOA
involved in positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP IMP: Inferred from mutant phenotype	9733515	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17875758	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	28344092	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	28344092	GOA
involved in positive regulation of telomerase catalytic core complex assembly	IMP IMP: Inferred from mutant phenotype	26586433	GOA
involved in positive regulation of telomere maintenance via telomere lengthening	IMP IMP: Inferred from mutant phenotype	17694070	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	9733515	GOA
involved in protein autophosphorylation	IMP IMP: Inferred from mutant phenotype	27664052	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	15448695	GOA
involved in protein phosphorylation	IMP IMP: Inferred from mutant phenotype	17694070	GOA
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	23878245	GOA
involved in regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	15149599	GOA
involved in regulation of telomere maintenance via telomerase	IGI IGI: Inferred from genetic interaction	26586433	GOA
involved in replicative senescence	IMP IMP: Inferred from mutant phenotype	15149599	GOA
involved in response to ionizing radiation	IDA IDA: Inferred from direct assay	9733515	GOA
involved in signal transduction in response to DNA damage	IDA IDA: Inferred from direct assay	26774286	GOA
involved in signal transduction in response to DNA damage	IMP IMP: Inferred from mutant phenotype	27664052	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of DNA repair complex	IDA IDA: Inferred from direct assay	24217620	GOA
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	15149599	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	27829214	GOA
located in nucleus	IDA IDA: Inferred from direct assay	26323318	GOA
is active in peroxisomal matrix	IDA IDA: Inferred from direct assay	26344566	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	26240375	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATM Protein Structure

TAN

FAT

PI3_PI4_kinase

FATC

0
500
1000
1500
2000
2500
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

ATM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATM	Q13315	TELO2	Homo sapiens	Q9Y4R8	Pull Down	18160036
Intra	ATM	Q13315	TTI1	Homo sapiens	O43156	Anti Bait CoIP	20810650
Intra	ATM	Q13315	NABP2	Homo sapiens	Q9BQ15	Protein Kinase Assay	18449195
Intra	ATM	Q13315	NABP2	Homo sapiens	Q9BQ15	Anti Bait CoIP	18449195
Intra	ATM	Q13315	NSD3	Homo sapiens	Q9BZ95	Y2H Array	25640309
Intra	ATM	Q13315	AATF	Homo sapiens	Q9NY61	Protein Kinase Assay	17157788
Intra	ATM	Q13315	ABL1	Homo sapiens	P00519	Anti Bait CoIP	9168117
Intra	ATM	Q13315	ABL1	Homo sapiens	P00519	Y2H	9168117
Intra	ATM	Q13315	ABL1	Homo sapiens	P00519	Pull Down	9168117
Intra	ATM	Q13315	IL24	Homo sapiens	Q13007	Anti Bait CoIP	25640309
Intra	ATM	Q13315	IL24	Homo sapiens	Q13007	Y2H Array	25640309
Intra	ATM	Q13315	NBN	Homo sapiens	O60934	Anti Bait CoIP	25895060
Intra	ATM	Q13315	NOTCH1	Homo sapiens	P46531	Anti Bait CoIP	25895060
Intra	ATM	Q13315	TERF2	Homo sapiens	Q15554	Anti Bait CoIP	15314656
Intra	ATM	Q13315	TERF2	Homo sapiens	Q15554	Pull Down	15314656
Intra	ATM	Q13315	TERF1	Homo sapiens	P54274	Anti Bait CoIP	11375976
Intra	ATM	Q13315	TERF1	Homo sapiens	P54274	Pull Down	15314656
Intra	ATM	Q13315	TERF1	Homo sapiens	P54274-2	Anti Bait CoIP	11375976
Intra	ATM	Q13315	ATMIN	Homo sapiens	O43313	Imaging	17525732
Intra	ATM	Q13315	ATMIN	Homo sapiens	O43313	Anti Tag CoIP	17525732
Intra	ATM	Q13315	ATMIN	Homo sapiens	O43313	Anti Bait CoIP	17525732
Intra	ATM	Q13315	IKBKG	Homo sapiens	Q9Y6K9	Anti Tag CoIP	18583959
Intra	ATM	Q13315	RRM2B	Homo sapiens	Q7LG56	Anti Bait CoIP	19015526
Cross	ATM	Q13315	P27958-PRO_0000037577	Hepatitis C virus	P27958-PRO_0000037577	Anti Bait CoIP	18667510
Cross	ATM	Q13315	P27958-PRO_0000037577	Hepatitis C virus	P27958-PRO_0000037577	Anti Tag CoIP	18667510
Cross	ATM	Q13315	P27958-PRO_0000037577	Hepatitis C virus	P27958-PRO_0000037577	Confocal	18667510

Cross: Cross-species interaction Intra: Intraspecies interaction

ATM Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80023	ATM Antibody (YA597)	WB, ICC/IF, IHC-P	Human
HY-P80453	Phospho-ATM (S1981) Antibody (YA223)	WB, ICC/IF, IHC-P, IP	Human
HY-P83436	Phospho-ATM (Ser1981) Antibody (YA3181)	WB, IHC-P, ICC/IF, IP	Human
HY-P84535	ATM Antibody (YA4232)	IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Monkey, Rat
HY-P84535A	ATM Antibody (YA4232)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Monkey, Rat
HY-P85049	ATM Antibody (YA4741)	WB, ELISA	Human
HY-P86109	ATM Antibody (YA5801)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat

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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Phase
HY-111783	AZD-7648	Inhibitor	99.86%	Phase 2
HY-13902	Berzosertib	Inhibitor	99.67%	Phase 2
HY-139609	Camonsertib	Inhibitor	99.99%	Phase 2
HY-150617	Lartesertib	Inhibitor	99.94%	Phase 2
HY-109566	AZD1390	Inhibitor	99.22%	Phase 1
HY-100016	AZD0156	Inhibitor	99.83%	Phase 1

Pre-clinical Phase

Bioactive Molecules (26)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12016	KU-55933	Inhibitor	99.92%	Unkown
HY-14731	VE-821	Inhibitor	99.67%	Unkown
HY-12061	KU-60019	Inhibitor	99.43%	Unkown
HY-15520	CGK733	Inhibitor	99.71%	Unkown
HY-15521	ETP-46464	Inhibitor	99.54%	Unkown
HY-103241	Ro 90-7501	Inhibitor	98.50%	Unkown
HY-11002	CP-466722	Inhibitor	99.74%	Unkown
HY-112198	AZ31	Inhibitor	98.22%	Unkown
HY-112305	AZ32	Inhibitor	99.81%	Unkown
HY-158345	PROTAC ATM degrader-1	Degrader	98.01%	Unkown
HY-112614	ATM Inhibitor-1	Inhibitor	/	Unkown
HY-174828	ATR/PARP1-IN-1	Inhibitor	/	Unkown
HY-144686	ATM Inhibitor-3	Inhibitor	/	Unkown
HY-169310	ATM Inhibitor-11	Inhibitor	/	Unkown
HY-172247	ATR-IN-31	Inhibitor	/	Unkown
HY-144687	ATM Inhibitor-4	Inhibitor	/	Unkown
HY-13902A	Berzosertib hydrochloride	Inhibitor	98.77%	Unkown
HY-144685	ATM Inhibitor-2	Inhibitor	/	Unkown
HY-147567	ATR-IN-15	Inhibitor	/	Unkown
HY-111783G	AZD-7648 (GMP)	Inhibitor	/	Unkown
HY-174989	ATM-IN-2	Inhibitor	/	Unkown
HY-149291	ATM Inhibitor-7	Inhibitor	/	Unkown
HY-141478	Antitumor agent-28	Inhibitor	/	Unkown
HY-151915	ATR-IN-20	Inhibitor	/	Unkown
HY-185575	ATM ligand-1	Ligand	/	Unkown
HY-N18301	Americanin A	Activator	/	Unkown

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
Others	ATM	NCBI