KDM4C - lysine demethylase 4C Gene

Also Known as GASC1; JHDM3C; JMJD2C; TDRD14C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23081

About KDM4C

Cytogenetic location: 9p24.1 Genomic coordinates (GRCh38): 9:6,720,863-7,175,648 (from NCBI)

This gene has 15 transcripts (splice variants), 304 orthologues and 10 paralogues. Ubiquitous expression in lymph node (RPKM 3.4), bone marrow (RPKM 3.3) and 25 other tissues.

Summary

This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

KDM4C Products (11)

mRNA	Protein	Name
NM_001146695.4	NP_001140167.1	lysine-specific demethylase 4C isoform 3
NM_001146696.2	NP_001140168.1	lysine-specific demethylase 4C isoform 4
NM_001304339.4	NP_001291268.1	lysine-specific demethylase 4C isoform 5
NM_001304340.4	NP_001291269.1	lysine-specific demethylase 4C isoform 6
NM_001304341.4	NP_001291270.1	lysine-specific demethylase 4C isoform 7
NM_001353997.3	NP_001340926.1	lysine-specific demethylase 4C isoform 8
NM_001353998.3	NP_001340927.1	lysine-specific demethylase 4C isoform 9
NM_001353999.3	NP_001340928.1	lysine-specific demethylase 4C isoform 10
NM_001354000.3	NP_001340929.1	lysine-specific demethylase 4C isoform 11
NM_001354001.3	NP_001340930.1	lysine-specific demethylase 4C isoform 11
NM_015061.6	NP_055876.2	lysine-specific demethylase 4C isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	17277772	GOA
enables histone H3K36 demethylase activity	IDA IDA: Inferred from direct assay	21914792	GOA
enables histone H3K9 demethylase activity	IDA IDA: Inferred from direct assay	18066052	GOA
enables histone H3K9 demethylase activity	IMP IMP: Inferred from mutant phenotype	28262558	GOA
enables histone H3K9me2/H3K9me3 demethylase activity	IDA IDA: Inferred from direct assay	21914792	GOA
contributes to histone H3K9me2/H3K9me3 demethylase activity	IMP IMP: Inferred from mutant phenotype	17277772	GOA
enables histone demethylase activity	EXP EXP: Inferred from Experiment	18066052	GOA
enables nuclear androgen receptor binding	IPI IPI: Inferred from physical interaction	17277772	GOA
enables nuclear receptor coactivator activity	IGI IGI: Inferred from genetic interaction	17277772	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	21914792	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in androgen receptor signaling pathway	IDA IDA: Inferred from direct assay	17277772	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	17277772	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17277772	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in chromatin	IDA IDA: Inferred from direct assay	17277772	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

KDM4C Protein Structure

JmjN

JmjC

PHD_2

zf-HC5HC2H_2

0
200
400
600
800
1000
1056 a.a.

Protein Preferred Names	Protein Names
lysine-specific demethylase 4C	JmjC domain-containing histone demethylation protein 3C

Related Diseases

Diseases	Alias
Primary Mediastinal B-Cell Lymphoma	Large Cell Lymphoma Of The Mediastinum Mediastinal Diffuse Large-Cell Lymphoma With Sclerosis Primary Mediastinal Clear Cell Lymphoma Of B-Cell Type
Lung Sarcomatoid Carcinoma	Sarcomatoid Carcinoma Of The Lung Pulmonary Sarcomatoid Carcinoma
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Spermatogenic Failure 8	SPGF8
Adult Medulloblastoma	Adult Brain Medulloblastoma Medulloblastoma, Adult
Sarcomatoid Squamous Cell Skin Carcinoma	Spindle Cell Squamous Cell Carcinoma Spindle Cell Squamous Cell Carcinoma Spindle Cell Squamous Cell Skin Carcinoma Spindle Cell Squamous Carcinoma Of Skin Squamous Cell Carcinoma, Sarcomatoid
Hyperoxaluria, Primary, Type I	Primary Hyperoxaluria Type 1 HP1 Glycolic Aciduria Alanine-Glyoxylate Aminotransferase Deficiency Hepatic Agt Deficiency Oxalosis I Primary Hyperoxaluria, Type I Serine:Pyruvate Aminotransferase Deficiency Hyperoxaluria, Primary, Type 1 Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency Serine Pyruvate Aminotransferase Deficiency Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Oxalosis 1 Hyperoxaluria Primary 1 Hyperoxaluria Primary Type I Ph1 Primary Hyperoxaluria Type I Oxalosis Type 1 2-Oxoglutarate Glyoxylate Carboligase Deficiency
Hodgkin'S Lymphoma, Nodular Sclerosis	Classical Hodgkin Lymphoma, Nodular Sclerosis Classic Hodgkin Lymphoma, Nodular Sclerosis Type Nodular Sclerosis Hodgkin Lymphoma Hodgkin'S Disease, Nodular Sclerosis Hodgkin Disease, Nodular Sclerosis Hodgkin Lymphoma, Nodular Sclerosis Hodgkin Nodular Sclerosis
Idh-Mutant Anaplastic Astrocytoma
Nasal Type Extranodal Nk/T-Cell Lymphoma	Extranodal Nasal Nk/T Cell Lymphoma Angiocentric T-Cell Lymphoma Lethal Midline Granuloma Nk/T-Cell Lymphoma Nktcl Nasal T/Natural Killer-Cell Lymphoma Granuloma, Lethal Midline Nasal And Nasal-Type Nk/T-Cell Lymphoma
Marginal Zone B-Cell Lymphoma	Marginal Zone Lymphoma Mzl Mucosa-Associated Lymphoid Tissue Lymphoma
Primary Hyperoxaluria	Hyperoxaluria Hyperoxaluria, Primary Oxalosis Primary Oxalosis Congenital Oxaluria D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Hepatic Agt Deficiency Oxaluria, Primary Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Primary Oxaluria Hyperoxaluria Primary Primary Hyperoxaluria Type 2 Primary Hyperoxaluria, Type I
Sotos Syndrome 3	Sotos3 Sotos Syndrome, Type 3
D-2-Hydroxyglutaric Aciduria 1	D-2-Hydroxyglutaric Aciduria D2HGA1 D-2-Hga D-2-Hydroxyglutaric Acidemia D2ha D2hga Aciduria, D-2-Hydroxyglutaric, Type 1 Combined D-2- And L-2-Hydroxyglutaric Aciduria
Ornithosis	Psittacosis Chlamydial Pneumonia Chlamydia Psittaci Infection Chlamydia Psittaci
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Facioscapulohumeral Muscular Dystrophy 2 FSHD2 Fshd1b Facioscapulohumeral Muscular Dystrophy 1b Fshd2, Digenic Muscular Dystrophy, Facioscapulohumeral, Type 2 Muscular Dystrophy, Facioscapulohumeral, Type 1b Fascioscapulohumeral Muscular Dystrophy 2, Digenic Facioscapulohumeral Muscular Dystrophy Type 2 Digenic Facioscapulohumeral Muscular Dystrophy Digenic Fshd2 Facioscapulohumeral Muscular Dystrophy Type 1b Dystrophy, Muscular, Facioscapulohumeral, Type 2
Fetal Alcohol Spectrum Disorder	Fetal Alcohol Spectrum Disorders Fetal Alcohol Syndrome
Squamous Cell Carcinoma	Epidermoid Carcinoma Squamous Cell Cancer Carcinoma, Squamous Cell Squamous Cell Skin Cancer Malignant Squamous Cell Tumor Squamous Carcinoma Squamous Cell Epithelioma Carcinoma Squamous Cell Neoplasms, Squamous Cell Squamous Cell Carcinoma - Category Malignant Squamous Cell Neoplasm Squamous Cell Carcinoma Of Skin
Central Nervous System Cancer	Central Nervous System Tumor Central Nervous System Tumors Cns Neoplasm Malignant Neoplasm Of Central Nervous System Malignant Tumor Of Cns Neoplasm Of Central Nervous System Malignant Neoplasm Of The Central Nervous System Neoplasm Of The Central Nervous System Central Nervous System Neoplasms Central Nervous System Neoplasm
2-Hydroxyglutaric Aciduria	2-Hga 2-Hydroxyglutaric Acidemia 2-Hydroxyglutaricaciduria Combined D-2- And L-2-Hydroxyglutaric Aciduria
Syndromic X-Linked Intellectual Disability Claes-Jensen Type	Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type Mrxscj Mrxsj Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation Syndromic X-Linked Mental Retardation Jarid1c-Related
Male Reproductive Organ Cancer	Genital Neoplasms, Male Male Genital Cancer Male Genital Neoplasm Male Reproductive System Neoplasm Malignant Neoplasm Of Male Genital Organ Malignant Neoplasm Of Male Genital Organ Or Tract Malignant Neoplasm Of Male Genital Organs Malignant Tumor Of Male Genital Organ Malignant Tumor Of Male Reproductive System Neoplasm Of Male Genital Organ Tumor Of Male Reproductive System
Male Reproductive System Disease	Genital Diseases, Male Disorder Of Male Reproductive System
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Mrxs13 Lindsay-Burn Syndrome Ppm-X Ppm-X Syndrome Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism Mental Retardation, X-Linked, Syndromic 13 X-Linked Mental Retardation 79 X-Linked Mental Retardation With Spasticity Intellectual Deficit, X-Linked - Psychosis - Macroorchidism Intellectual Disability Psychosis Macroorchidism Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism Intellectual Disability, X-Linked, Syndromic 13 Ppmx X-Linked Mental Retardation, Syndromic 13
Composite Lymphoma	Composite Hodgkin And Non-Hodgkin Lymphoma
Brachydactyly, Type E1	Brachydactyly Type E1 Brachydactyly Type E BDE1 Brachydactyly, Type E Bde Type E Brachydactyly Brachydactyly E1 Brachydactyly Syndrome Type E
Laurin-Sandrow Syndrome	Sandrow Syndrome Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly Mirror Hands And Feet With Nasal Defects Tmip LSS Mip Mirror Hands And Feets-Nasal Defects Syndrome Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius Miccor Hands And Feet With Nasal Defects Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius Fibula Ulna Duplication Tibia Radius Absence Laurin Sandrow Syndrome Duplication Of Fibula And Ulna With Absence Of Tibia And Radius Segmental Laurin-Sandrow Syndrome Laurin-Sandrow Syndrome, Segmental
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Bone Marrow Cancer	Malignant Neoplasm Of Bone Marrow Bone Marrow Neoplasm Bone Marrow Tumor Malignant Bone Marrow Tumor Myeloproliferative Disorders Bone Marrow Neoplasms Myeloproliferative Disease Chronic Myeloproliferative Disorder
Orofaciodigital Syndrome Viii	Edwards Syndrome Trisomy 18 Complete Trisomy 18 Syndrome OFD8 Orofaciodigital Syndrome 8 Trisomy 18 Syndrome Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis E3 Trisomy Oral-Facial-Digital Syndrome Type 8 Orofaciodigital Syndrome Type 8 Ofds Viii Oral-Facial-Digital Syndrome, Type Viii Ofd Syndrome 8 Ofds 8 Oral Facial Digital Syndrome 8 Oral Facial Digital Syndrome Type 8 18 Trisomy Chromosome 18 Trisomy Trisomy 16-18 Trisomy E Trisomy E Syndrome Chromosome 18 Duplication Oral-Facial-Digital Syndrome, Edwards Type Orofaciodigital Syndrome, Edwards Type Chromosome 18, Trisomy Cleft Lip/Palate With Abnormal Thumbs And Microcephaly Trisomy 18 Chromosome Abnormal Autosomes 18
Specific Developmental Disorder
Mature T-Cell And Nk-Cell Lymphoma	Mature T-Cell And Natural Killer Cell Lymphoma Nk-T Cell Lymphoma
Nephronophthisis 4	NPHP4 Juvenile Nephronophthisis 4 Nephronophthisis 4, Juvenile Nephronophthisis, Type 4
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Retinal Cancer	Malignant Neoplasm Of Retina Retinal Neoplasms Malignant Retinal Neoplasm Malignant Tumor Of Retina Neoplasm Of Retina Retinal Tumor Retinal Neoplasm Cancer Of The Retina Malignant Retinal Tumour Malignant Tumour Of Retina Primary Malignant Neoplasm Of Retina
Chromosome 16p13.3 Deletion Syndrome, Proximal	Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Chromosome 16p13.3 Deletion Syndrome Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion Rubinstein Syndrome Broad Thumbs-Halluces Syndrome Rsts Rubinstein-Taybi Deletion Syndrome Rsts Deletion Syndrome Proximal Chromosome 16p13.3 Deletion Syndrome 16p13.3 Deletion Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability Rts
Esophageal Disease	Esophageal Diseases Esophageal Ulcer Esophageal Disorder Ulcer Of Esophagus
Combined D-2- And L-2-Hydroxyglutaric Aciduria	D,L-2-Hydroxyglutaric Aciduria D2L2AD Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria D,L-2-Hga D,L-2-Hydroxyglutaric Acidemia Combined D,L-2-Hydroxyglutaric Aciduria
Thoracic Cancer	Thoracic Tumor Thorax Cancer Thorax Neoplasm Tumor Of Thorax Thoracic Neoplasms
Lymphatic System Cancer
Sotos Syndrome 2	Sotos2 Sotos Syndrome, Type 2
Lymphatic System Disease	Lymphatic Diseases Adenopathy Lymphatic Disease Disease Of Lympoid System Disorder Of Lymph Node And Lymphatics Disorder Of Lymphatic System Disorder Of Lymphoid System Lymphangiopathy Lymphatic Disorder Lympoid System Disease Abnormality Of The Lymphatic System
White-Sutton Syndrome	WHSUS Mrd37 Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome Mental Retardation, Autosomal Dominant 37 Autosomal Dominant Mental Retardation 37 Pogz-Related Intellectual Disability Syndrome
Serine Deficiency
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Autonomic Nervous System Neoplasm	Tumor Of Autonomic Nervous System
Peripheral Nervous System Neoplasm	Peripheral Nervous System Neoplasms Nerve Sheath Neoplasm Neoplasm Of Peripheral Nerve Tumor Of Pns Nerve Sheath Neoplasms Nerve Sheath Tumors
Digenic Disease
Central Nervous System Benign Neoplasm	Benign Neoplasm Of The Central Nervous System
Angioimmunoblastic T-Cell Lymphoma	Immunoblastic Lymphadenopathy Lymphogranulomatosis X T-Cell Lymphoma, Aild Type Aitl Ailt Angioimmunoblastic Lymphadenopathy Aild - [Angioimmunoblastic Lymphadenopathy With Dysproteinaemia] Angioimmunoblastic Lymphoma
Brain Stem Cancer	Brain Stem Neoplasms Malignant Neoplasm Of Brain Stem Malignant Neoplasm Of Brainstem Neoplasm Of Adult Brain Stem Neoplasm Of Brain Stem Primary Brain Stem Neoplasm Primary Brain Stem Tumor Brain Stem Neoplasm Brain Stem--Cancer Brain Stem Neoplasms, Primary
Connective Tissue Cancer	Neoplasms, Connective Tissue Connective Tissue Neoplasm Mesenchymal Tissue Malignant Neoplasm Neoplasm Of Connective Tissues Tumour Of Connective Tissue
Diffuse Astrocytoma	Diffuse Astrocytoma, Low Grade Who Grade Ii Astrocytoma Fibrillary Astrocytoma Gemistocytic Astrocytoma Low-Grade Diffuse Astrocytoma Protoplasmic Astrocytoma
Multiple Enchondromatosis, Maffucci Type	Maffucci Syndrome Chondrodysplasia With Hemangioma Chondroplasia Angiomatosis Enchondromatosis With Hemangiomata Hemangiomatosis Chondrodystrophica Kast Syndrome Multiple Angiomas And Endochondromas Dyschondrodysplasia With Hemangiomas Enchondromatosis Type Ii Enchondromatosis With Multiple Cavernous Hemangiomas Dyschondroplasia And Cavernous Hemangioma Hemangiomata With Dyschondroplasia
Retinitis Pigmentosa 1	RP1 Retinitis Pigmentosa-1 Retinitis Pigmentosa, Type 1
Low Grade Glioma	Benign Glioma
Leukocyte Disease	Leukocyte Disorders
Acute Erythroid Leukemia	Acute Erythroleukemia Di Guglielmo'S Syndrome Aml M6 Acute Myeloid Leukemia Fab-M6 Acute Myeloid Leukemia M6 Erythroleukemia Aml-M6 Acute Erythroleukemia M6a Subtype Acute Erythroleukemia M6b Subtype Di Guglielmo Syndrome Acute Myeloid Leukemia, M6 Type Acute Erythroblastic Leukemia Acute Erythroleukemia - M6a Subtype Acute Erythroleukemia - M6b Subtype Acute Erythraemia And Erythroleukaemia Acute Erythroid Leukaemia Without Mention Of Remission Erythraemia Erythraemic Myelosis Erythroleukaemia Acute Erythraemic Myelosis Acute Erythraemia
Malignant Astrocytoma	Astrocytic Tumor Astrocytoma Of Brain Astrocytoma Of Cerebrum Astroglioma Cerebral Astrocytoma Astrocytoma
Spinal Disease	Spinal Disorder Spinal Diseases
Syndromic X-Linked Intellectual Disability Siderius Type	Mrxssd Siderius-Hamel Syndrome Siderius X-Linked Mental Retardation Syndrome
Sotos Syndrome 1	Sotos1 Sotos Syndrome, Type 1 Sotos' Syndrome
Autoimmune Vasculitis
Disease Of Mental Health	Mental Health Mental Disorders
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
Melanoma In Congenital Melanocytic Nevus	Malignant Melanoma In Congenital Melanocytic Nevus Melanocytic Nevi Nevi Melanocytic
Reproductive System Disease	Abnormality Of The Genital System Genital System Disease Reproductive System Disorder
Estrogen-Receptor Positive Breast Cancer
Lymphoma, Mucosa-Associated Lymphoid Type	Malt Lymphoma Gastric Lymphoma, Primary Lymphoma, Malt, Somatic Mucosa-Associated Lymphoid Tissue Lymphoma Extranodal Marginal Zone B-Cell Lymphoma MALTOMA Marginal Zone B-Cell Lymphoma Mucosa-Associated Lymphatic Tissue Lymphoma Primary Gastric Lymphoma Gastric Lymphoma Familial Primary Gastric Lymphoma
Bone Sarcoma
Bardet-Biedl Syndrome 3	BBS3 Bardet-Biedl Syndrome, Type 3
Ocular Cancer	Eye Neoplasm Eye Carcinoma Eye Cancer Eye Neoplasms Malignant Eye Neoplasm Neoplasm Of Eye Neoplasm Of Eye Proper Ocular Tumor Carcinoma Of Eye Ocular Carcinoma Malignant Tumor Of Eye
Prostate Disease	Prostatic Diseases Prostate Diseases
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2
Intrahepatic Cholangiocarcinoma	Cholangiocarcinoma Intrahepatic Bile Duct Carcinoma Peripheral Cholangiocarcinoma Peripheral Intrahepatic Cholangiocarcinoma Adenocarcinoma Of Intra-Hepatic Bile Ducts Cholangiocarcinoma, Unspecified Site Cholangiocarcinoma Of Liver
Immune System Disease	Abnormality Of The Immune System Immune System And Disorders Immune System Diseases
Retinitis Pigmentosa 11	RP11 Retinitis Pigmentosa-11 Retinitis Pigmentosa, Type 11
Adult T-Cell Leukemia/Lymphoma	Adult T-Cell Leukemia Atll Adult T-Cell Leukaemia Adult T-Cell Leukaemia/Lymphoma Adult T-Cell Lymphoma T Cell Leukemia Lymphoma Adult Leukemia-Lymphoma, Adult T-Cell Leukemia, T-Cell Adult T-Cell Lymphoma/Leukemia
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
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
Fetal Alcohol Syndrome	Fetal Alcohol Spectrum Disorders Arbd Arnd Alcohol-Related Birth Defects Alcohol-Related Neurodevelopmental Disorder Fas Fasd Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk Alcohol Related Birth Defect Alcohol Related Neurodevelopmental Disorder Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk Dysmorphism Due To Alcohol Fetal Etoh Syndrome
Enchondromatosis, Multiple, Ollier Type	Ollier Disease Enchondromatosis Dyschondroplasia Osteochondromatosis Multiple Cartilaginous Enchondroses Multiple Enchondromatosis Enchondromatosis With Haemangiomata Enchondromatosis, Multiple Kast'S Syndrome Ollier'S Syndrome Enchondromatosis Multiple ENCHOM Maffucci Disease Olliers Disease Hereditary Multiple Exostoses Chondromatosis
Brain Stem Glioma	Brainstem Glioma Brainstem Neuroglial Tumor Glioma Of Brainstem
Bone Cancer	Malignant Bone Neoplasm Bone Carcinoma Bone Neoplasms Bone Neoplasm Bone Tumour Ca - Bone Cancer Malignant Bone Tumour Malignant Neoplasm Of Bone Malignant Osseous Tumor Neoplasm Of Bone Osseous Tumor Osteosarcoma Of Bone Osteogenic Neoplasm
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Chondroblastoma	Chondroblastoma Of Bone
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Skin Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Skin Epidermoid Skin Carcinoma Squamous Cell Carcinoma Of The Skin Squamous Cell Epithelioma Of Skin Cutaneous Squamous Cell Carcinoma Scc - [Squamous Cell Carcinoma] Of Skin
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Breast Disease	Breast Diseases
Gliomatosis Cerebri	Astrocytosis Cerebri Neoplasms, Neuroepithelial
Nodal Marginal Zone Lymphoma	Mucosa-Associated Lymphoid Tissue Lymphoma Monocytoid B-Cell Lymphoma
Childhood Medulloblastoma	Medulloblastoma, Childhood Pediatric Medulloblastoma Medulloblastoma Childhood
Hematologic Cancer	Hematologic Neoplasm Hematologic Neoplasms Hematologic Malignancies Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Gray Zone Lymphoma	B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma
Sensory System Disease
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Mature B-Cell Neoplasm	Mature B-Cell Lymphocytic Neoplasm Neoplasm Of Mature B-Cells Mature B-Cell Non-Hodgkin Neoplasm With Leukaemic Behaviour
Brain Glioma	Lower Grade Glioma Intracranial Glioma Glioma Nos
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
Germ Cell Cancer	Malignant Germ Cell Tumor Neoplasms, Germ Cell And Embryonal Germ Cell Neoplasm Germ Cell Tumour Malignant Tumor Of The Germ Cell Neoplasms Germ Cell Malignant Germ Cell Neoplasm
Carbohydrate Metabolic Disorder	Inborn Errors Of Carbohydrate Metabolism Disorder Of Carbohydrate Metabolism Carbohydrate Metabolism, Inborn Errors Disorder Of Carbohydrate Transport And Metabolism Inborn Carbohydrate Metabolism Disorder Inborn Carbohydrate Metabolic Disorder Carbohydrate Metabolism Disorder Carbohydrate Metabolism Disorders Disorders Of Carbohydrate Metabolism Congenital Disorders Of Carbohydrate Metabolism Inherited Disorders Of Carbohydrate Metabolism
Leiomyomatosis
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
Bile Duct Adenocarcinoma
Colonic Disease	Colonic Diseases Colon Disorder
Inherited Metabolic Disorder	Inborn Errors Of Metabolism Inborn Metabolic Disorder Inborn Metabolism Disorder Metabolic Hereditary Disorder Inborn Error Of Metabolism Metabolism, Inborn Errors
Suppression Of Tumorigenicity 12	Prostate Adenocarcinoma Adenocarcinoma Of Prostate ST12 Prostate Adenocarcinoma 1 Pac1
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Chronic Leukemia	Adult Chronic Leukemia Cll Cml
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Potocki-Lupski Syndrome	PTLS Chromosome 17p11.2 Duplication Syndrome 17p11.2 Microduplication Syndrome Duplication 17p11.2 Syndrome Trisomy 17p11.2 Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2)) 17p11.2 Duplication Syndrome Dup(17)(P11.2p11.2) Pls Chromosome 17, Trisomy 17p11 2
Central Nervous System Disease	Cns Disorder CNS Cns Diseases Central Nervous System Diseases
Chromosomal Duplication Syndrome
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
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
Urinary System Disease	Abnormality Of The Urinary System Non-Neoplastic Urinary Tract Disease Urinary Tract Disease Urinary Tract Diseases Urinary Tract Anomaly Urologic Diseases Non-Neoplastic Urinary System Disorder Congenital Malformation Of The Urinary System
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
Cardiomyopathy, Dilated, 1e	Left Ventricular Noncompaction 9 Left Ventricular Noncompaction 5 Dilated Cardiomyopathy 1e Dilated Cardiomyopathy 1s CMD1E Cdcd2 Cardiomyopathy, Dilated, 1y CMD1Y Cardiomyopathy, Dilated, 1s CMD1S Dilated Cardiomyopathy 1y Dilated Cardiomyopathy With Conduction Defect 2 Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Defect 2 Cardiomyopathy Dilated With Conduction Defect Type 2 Cardiomyopathy, Dilated 1e Cardiomyopathy, Dilated 1s Cardiomyopathy, Dilated 1y Left Ventricular Non-Compaction 5 LVNC5 Left Ventricular Non-Compaction 9 LVNC9 Cardiomyopathy, Dilated, Type 1e Cardiomyopathy, Dilated, Type 1s Cardiomyopathy, Dilated, Type 1y
Cartilage-Hair Hypoplasia	Metaphyseal Chondrodysplasia, Mckusick Type CHH Mckusick Type Metaphyseal Chondrodysplasia Metaphyseal Dysplasia Without Hypotrichosis Cartilage Hair Hypoplasia Like Syndrome Metaphyseal Chondrodysplasia Mckusick Type Chhv Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency Cartilage-Hair Syndrome Mckusick'S Metaphyseal Chondrodysplasia Syndrome Metaphyseal Chondrodysplasia, Recessive Type Autosomal Recessive Metaphyseal Chondrodysplasia
Peripheral T-Cell Lymphoma	Lymphoma T-Cell Peripheral
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Ganglioneuroblastoma
Bladder Disease	Bladder Diseases Urinary Bladder Diseases Urinary Bladder Disease
Cell Type Benign Neoplasm
Central Nervous System Hematologic Cancer	Cns Hematopoietic Tumor Hematopoietic Neoplasm Of Central Nervous System Central Nervous System Hematopoietic Neoplasm
Central Nervous System Lymphoma	Microglioma Primary Cns Lymphoma Cns Lymphoma Primary Central Nervous System Lymphoma
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Endocrine Organ Benign Neoplasm
Muscular Disease
Anaplastic Oligodendroglioma
Primary Cutaneous T-Cell Non-Hodgkin Lymphoma	Cutaneous T-Cell Lymphoma Cutaneous T Cell Lymphoma Lymphoma, T-Cell, Cutaneous Ctcl Lymphoma T-Cell Cutaneous
Diffuse Large B-Cell Lymphoma	Dlbcl Diffuse Large B-Cell Lymphoma, Not Otherwise Specified Large B-Cell Diffuse Lymphoma Lymphoma, Large B-Cell, Diffuse Dlbcl - [Diffuse Large B-Cell Lymphoma] Diffuse Large Beta Cell Lymphoma
Malignant Exocrine Pancreas Neoplasm	Malignant Neoplasm Of The Exocrine Pancreas Malignant Tumor Of Exocrine Pancreas Malignant Tumour Of Exocrine Pancreas
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Nut Midline Carcinoma	Nuclear Protein In Testis Midline Carcinoma Nmc
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
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Physical Disorder	Physical Illness
Large Intestine Cancer
Respiratory System Cancer
Chronic Myelomonocytic Leukemia	Leukemia, Myelomonocytic, Chronic Cmml Leukemia Myelomonocytic Chronic Cmml - [Chronic Myelomonocytic Leukaemia] Chronic Myelomonocytic Leukaemia Without Mention Of Remission Chronic Monocytic Leukaemia Chronic Monocytoid Leukaemia
Intestinal Disease	Intestinal Diseases
Gastrointestinal System Cancer	Digestive System Neoplasms Gastrointestinal Neoplasms Digestive System Cancer Gastrointestinal Tract Cancer Gi Tumor Digestive System Neoplasm Digestive System Carcinoma Malignant Neoplasm Of Gastrointestinal Tract Cancer Of Digestive System
Bile Duct Disease	Bile Duct Diseases Bile Duct Disorder Disorder Of Bile Duct
Chromosomal Deletion Syndrome
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
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 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
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer 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
Anaplastic Astrocytoma	Grade Iii Astrocytoma Astrocytoma, Anaplastic Grade Iii Astrocytic Tumor
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Alcohol Use Disorder	Alcohol Abuse Alcoholism Ethanol Abuse Alcohol Addiction Alcohol Dependence Alcoholic Intoxication, Chronic Alcohol-Related Disorders
Biliary Tract Disease	Biliary Tract Diseases Biliary Tract Abnormality
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Biliary Tract Cancer	Malignant Tumour Of Biliary Tract Biliary Tract Neoplasms Biliary Tract Neoplasm
Gastrointestinal System Disease	Gastrointestinal Disease Gastrointestinal Diseases Alimentary System Disease Digestive System Disorder Gastroenteropathy Gastrointestinal Disorder Git Disease Digestive System Diseases Gastrointestinal Disorders Digestive System Disease Digestive System Disorders
Childhood Leukemia
Testicular Disease	Testicular Dysfunction Testicular Diseases Disorder Of Testis Testis Disorder Testicular Disorders
Respiratory System Disease	Abnormality Of The Respiratory System Respiration Disorders Respiratory Tract Diseases
Acute Biphenotypic Leukemia	Mixed Phenotype Acute Leukemia Acute Leukemia Of Ambiguous Lineage Acute Undifferentiated Leukemia Acute Leukemia Of Indeterminate Lineage Hybrid Acute Leukemia Mixed Lineage Acute Leukemia All With Myeloid Markers Aml With Lymphoid Markers Acute Leukemia Of Undetermined Lineage Bal Biphenotypic Acute Leukemia Undifferentiated Acute Leukemia Mpal Acute Myeloid Leukemia, Minimal Differentiation, Fab M0 Leukemia, Biphenotypic, Acute
Endocrine System Disease	Abnormality Of The Endocrine System Disorder Of Endocrine System Endocrine System Diseases
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Skin Melanoma	Cutaneous Melanoma Malignant Ear Melanoma Malignant Lip Melanoma Malignant Lower Limb Melanoma Malignant Melanoma Of Ear And/Or External Auricular Canal Malignant Melanoma Of Skin Of Lower Limb Malignant Melanoma Of Skin Of Trunk Except Scrotum Malignant Melanoma Of Skin Of Upper Limb Malignant Neck Melanoma Malignant Scalp Melanoma Malignant Trunk Melanoma Malignant Upper Limb Melanoma Melanoma, Cutaneous Malignant Melanoma Malignant Melanoma Of Skin Melanoma Nos Malignant Mole, Meaning Melanoma Of Unspecified Site Melanoma Of Unspecified Site Cutaneous Malignant Melanoma Mm - [Malignant Melanoma]
Muscle Tissue Disease
Integumentary System Disease
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
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
High Grade Glioma	Malignant Glioma Glial Cell Tumor Glioma, Malignant Malignant Neuroglial Tumor Neuroglial Tumor Glioma Malignant Gliomas
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Pancreatic Ductal Adenocarcinoma	Ductal Adenocarcinoma Of The Pancreas
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Acquired Metabolic Disease
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Head And Neck Cancer	Head And Neck Neoplasm Head And Neck Tumours Head/Neck Neoplasm Tumor Of Head And Neck Head And Neck Neoplasms Hnc Cancer, Head/Neck
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
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
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
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
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
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple 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]
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Orofacial Cleft	Cleft, Orofacial
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Myopathy	Muscular Diseases Myopathies
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
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (15)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-12304	IOX1	Inhibitor	99.89%	Unkown
HY-104048	QC6352	Inhibitor	99.13%	Unkown
HY-116761	GSK467	Inhibitor	99.34%	Unkown
HY-148807	Zavondemstat		99.29%	Unkown
HY-107573	KDM2/7-IN-1	Inhibitor	99.9%	Unkown
HY-146148	KDM4C-IN-1	Inhibitor	98.13%	Unkown
HY-120766	NCDM-32B	Inhibitor	97.0%	Unkown
HY-148807A	Zavondemstat L-lysine		/	Unkown
HY-RS07215	KDM4C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-173135	PROTAC KDM4 degrader-1		/	Unkown
HY-116796	KDM4C-IN-2	Inhibitor	97.31%	Unkown
HY-148807C	Zavondemstat sodium		/	Unkown
HY-183928	EPZ020809	Inhibitor	/	Unkown
HY-RS17833	Kdm4c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24301	Kdm4c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KDM4C	VGNC	VGNC:73843
Bos taurus	KDM4C	VGNC	VGNC:30529
Rattus norvegicus	KDM4C	RGD	RGD:1307528
Felis catus	KDM4C	VGNC	VGNC:97473
Canis familiaris	KDM4C	VGNC	VGNC:42326
Mus musculus	KDM4C	MGD	MGI:1924054
Others	KDM4C	NCBI