Diffuse Midline Glioma, H3 K27m-Mutant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DIPG MCID: DFF039 MIFTS: 57	Diffuse Midline Glioma, H3 K27m-Mutant (DIPG) Categories: Cancer diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Diffuse Midline Glioma, H3 K27m-Mutant

MalaCards integrated aliases for Diffuse Midline Glioma, H3 K27m-Mutant:

IMPROVED

Name: Diffuse Midline Glioma, H3 K27m-Mutant ¹¹ ¹⁴

Diffuse Intrinsic Pontine Glioma ¹¹ ¹⁹ ⁵⁸ ⁵ ¹⁶ ⁷¹ ⁷⁵

Dipg ¹⁹ ⁵⁸

Infiltrative Brainstem Glioma ¹⁹

Characteristics:

Prevelance:

Diffuse Intrinsic Pontine Glioma: <1/1000000 (Netherlands) ⁵⁸

Age Of Onset:

Diffuse Intrinsic Pontine Glioma: All ages ⁵⁸

Age Of Death:

Diffuse Intrinsic Pontine Glioma: any age ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹¹ DOID:0080684

NCIt ⁴⁹ C129309

Orphanet ⁵⁸ ORPHA497188

EFO ¹⁶ EFO_1000026

UMLS ⁷¹ C2986658

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Summaries for Diffuse Midline Glioma, H3 K27m-Mutant

Orphanet: ⁵⁸ A rare glial tumor characterized by a highly aggressive, diffusely infiltrative pontine lesion generally occurring in children, affecting local nerve fiber tracts and spreading contiguously to involve adjacent structures, but also metastasizing within the central nervous system. Patients mostly present with a short history of symptoms, typically including the classic triad of multiple cranial neuropathies, long tract signs, and ataxia. Signs and symptoms of increased intracranial pressure may present due to obstructive hydrocephalus. Prognosis is poor and not related to histological grade.

MalaCards based summary: Diffuse Midline Glioma, H3 K27m-Mutant, also known as diffuse intrinsic pontine glioma, is related to glioblastoma and brain stem glioma. An important gene associated with Diffuse Midline Glioma, H3 K27m-Mutant is CHEK2 (Checkpoint Kinase 2), and among its related pathways/superpathways are Gene expression (Transcription) and Metabolism of proteins. The drugs Prednisone and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and pons, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology: ¹¹ A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.

GARD: ¹⁹ A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.

Wikipedia: ⁷⁵ A diffuse intrinsic pontine glioma (DIPG) is a tumour located in the pons (middle) of the brain stem.... more...

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Related Diseases for Diffuse Midline Glioma, H3 K27m-Mutant

Diseases related to Diffuse Midline Glioma, H3 K27m-Mutant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 168)

#	Related Disease	Score	Top Affiliating Genes
1	glioblastoma	31.2	PDGFRA H3C4 H3C1 H3-3B H3-3A BRCA2
2	brain stem glioma	31.0	H3C6 H3C4 H3C3 H3C2 H3C12 H3C11
3	juvenile pilocytic astrocytoma	30.9	H3C6 H3C4 H3C3 H3-3B H3-3A
4	fibrillary astrocytoma	30.7	H3-3B H3-3A
5	nijmegen breakage syndrome	30.7	H2AC18 CHEK2 BRCA2
6	anaplastic astrocytoma	30.4	PDGFRA H3C6 H3C4 H3C3 H3C2 H3C11
7	brain stem astrocytic neoplasm	30.4	H3-3B ATRX
8	diffuse astrocytoma	30.3	PDGFRA H3C6 H3C4 H3C3 H3C2 H3C12
9	pilocytic astrocytoma	30.0	PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
10	low grade glioma	29.6	PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
11	brain cancer	11.0
12	glioma susceptibility 1	10.8
13	glioma	10.8
14	glial tumor	10.8
15	factor vii deficiency	10.6
16	brain tumor, childhood	10.5
17	hydrocephalus	10.5
18	mismatch repair cancer syndrome 1	10.4
19	neutropenia	10.4
20	central nervous system cancer	10.4
21	cranial nerve palsy	10.4
22	hereditary breast cancer	10.4	CHEK2 BRCA2
23	bone giant cell sarcoma	10.4	H3-3B H3-3A
24	fanconi anemia, complementation group n	10.4	BRIP1 BRCA2
25	tracheoesophageal fistula with or without esophageal atresia	10.4	BRIP1 BRCA2
26	periosteal osteogenic sarcoma	10.4	H3-3B H3-3A
27	malignant giant cell tumor	10.4	H3-3B H3-3A
28	breast-ovarian cancer, familial 1	10.4	BRIP1 BRCA2
29	ovarian cancer 1	10.4	BRIP1 BRCA2
30	telangiectatic osteogenic sarcoma	10.4	H3-3B H3-3A
31	autosomal recessive cerebellar ataxia	10.4	H2AC18 CHEK2 BRCA2
32	retinoblastoma	10.4
33	thrombocytopenia	10.4
34	bone giant cell tumor	10.4	H3-3B H3-3A H2AC18
35	chondroblastic osteosarcoma	10.4	H3-3B H3-3A
36	alpha-thalassemia/mental retardation syndrome, x-linked	10.4
37	high grade glioma	10.4
38	paraplegia	10.4
39	chondroblastoma	10.4	H3-3B H3-3A H2AC18
40	connective tissue benign neoplasm	10.4	H3-3B H3-3A H2AC18
41	ovarian carcinosarcoma	10.4	H2AC18 BRCA2
42	sporadic breast cancer	10.4	H2AC18 CHEK2 BRIP1 BRCA2
43	oculoectodermal syndrome	10.4	H3-3B H3-3A
44	adult brain stem glioma	10.3	H3-3B H3-3A ATRX
45	idh-wildtype anaplastic astrocytoma	10.3	H3-3B H3-3A ATRX
46	adult oligodendroglioma	10.3	H3-3B H3-3A ATRX
47	childhood oligodendroglioma	10.3	H3-3B H3-3A ATRX
48	gliomatosis cerebri	10.3	H3-3B H3-3A ATRX
49	dysembryoplastic neuroepithelial tumor	10.3	H3-3B H3-3A ATRX
50	seckel syndrome	10.3	H2AC18 CHEK2 BRIP1 BRCA2

Graphical network of the top 20 diseases related to Diffuse Midline Glioma, H3 K27m-Mutant:

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Symptoms & Phenotypes for Diffuse Midline Glioma, H3 K27m-Mutant

GenomeRNAi Phenotypes related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

²⁵ (show all 33)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-1	10.04	CHEK2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	10.04	H3C10
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.04	BRIP1 H3C1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-112	10.04	CHEK2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-114	10.04	CHEK2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	10.04	ACVR1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	10.04	H3C10
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	10.04	CHEK2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	10.04	BRIP1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	10.04	CHEK2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	10.04	ACVR1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	10.04	BRIP1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	10.04	H3C10
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-142	10.04	CHEK2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-160	10.04	ACVR1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	10.04	H3C10
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	10.04	H3C1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-193	10.04	H3C1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	10.04	BRIP1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	10.04	ACVR1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	10.04	H3C1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-40	10.04	H3C1
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	10.04	H3C10
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	10.04	H3C1
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	10.04	ACVR1 H3C1 CHEK2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-66	10.04	ACVR1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	10.04	BRIP1
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	10.04	ACVR1
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	10.04	H2AC18
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	10.04	ACVR1 CHEK2
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-9	10.04	ACVR1
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-96	10.04	H3C10
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-99	10.04	H2AC18

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Drugs & Therapeutics for Diffuse Midline Glioma, H3 K27m-Mutant

Drugs for Diffuse Midline Glioma, H3 K27m-Mutant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 128)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Prednisone

Approved, Vet_approved

Phase 3

53-03-2

5865

Levoleucovorin

Approved, Experimental, Investigational

Phase 3

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Cisplatin

Approved

Phase 3

15663-27-1

2767 5702198 441203

Methotrexate

Approved

Phase 3

1959-05-2, 59-05-2

4112 126941

Ifosfamide

Approved

Phase 3

3778-73-2

3690

Valproic acid

Approved, Investigational

Phase 3

99-66-1

3121

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Palifosfamide

Investigational

Phase 3

31645-39-3

100427

Nimotuzumab

Investigational

Phase 3

780758-10-3

Dermatologic Agents

Phase 3

glucocorticoids

Phase 3

Antineoplastic Agents, Hormonal

Phase 3

Folic Acid Antagonists

Phase 3

Folate

Phase 3

Calcium, Dietary

Phase 3

Hormones

Phase 3

Hormone Antagonists

Phase 3

Vitamin B9

Phase 3

Anti-Inflammatory Agents

Phase 3

Vitamin B Complex

Phase 3

Neurotransmitter Agents

Phase 3

Anticonvulsants

Phase 3

Psychotropic Drugs

Phase 3

Pharmaceutical Solutions

Phase 3

Calcium

Nutraceutical

Phase 3

7440-70-2

271

Vorinostat

Approved, Investigational

Phase 1, Phase 2

149647-78-9

5311

Peginterferon alfa-2b

Approved

Phase 2

215647-85-1, 99210-65-8

Benzocaine

Approved, Investigational

Phase 2

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 2

1401-55-4

16129878 16129778

Dopamine

Approved

Phase 2

62-31-7, 51-61-6

681

Irinotecan

Approved, Investigational

Phase 2

97682-44-5, 100286-90-6

60838

Lomustine

Approved, Investigational

Phase 2

13010-47-4

3950

Etoposide

Approved

Phase 2

33419-42-0

36462

Vincristine

Approved, Investigational

Phase 1, Phase 2

2068-78-2, 57-22-7

5978

Cemiplimab

Approved, Investigational

Phase 1, Phase 2

1801342-60-8

Topotecan

Approved, Investigational

Phase 2

123948-87-8, 119413-54-6

60699 60700

Palbociclib

Approved, Investigational

Phase 2

571190-30-2

5330286

Vinorelbine

Approved, Investigational

Phase 2

71486-22-1

44424639 60780

Carboplatin

Approved

Phase 1, Phase 2

41575-94-4

10339178 38904

Sodium citrate

Approved, Investigational

Phase 1, Phase 2

68-04-2

23431961

Mebendazole

Approved, Vet_approved

Phase 1, Phase 2

31431-39-7

4030

Piperazine

Approved, Vet_approved

Phase 1, Phase 2

110-85-0

4837

Eflornithine

Approved, Withdrawn

Phase 1, Phase 2

70052-12-9

3009

Nivolumab

Approved

Phase 1, Phase 2

946414-94-4

Somatostatin

Approved, Investigational

Phase 1, Phase 2

38916-34-6, 51110-01-1

53481605 16129706

Lutetium Lu 177 dotatate

Approved, Investigational

Phase 1, Phase 2

437608-50-9

76966897

Bevacizumab

Approved, Investigational

Phase 2

216974-75-3

135329020

Temozolomide

Approved, Investigational

Phase 2

85622-93-1

5394

Erlotinib

Approved, Investigational

Phase 2

183319-69-9, 183321-74-6

176870

Doxorubicin

Approved, Investigational

Phase 2

23214-92-8

31703

Interventional clinical trials:

(show top 50) (show all 104)

#	Name	Status	NCT ID	Phase	Drugs
1	Treatment of Children and Adolescents With Diffuse Intrinsic Pontine Glioma and High Grade Glioma	Unknown status	NCT00278278	Phase 3	cisplatin;etoposide;ifosfamide;lomustine;methotrexate;prednisone;vincristine sulfate
2	Biological Medicine for Diffuse Intrinsic Pontine Glioma (DIPG) Eradication	Recruiting	NCT05476939	Phase 3	Everolimus;ONC201
3	International Cooperative Phase III Trial of the HIT-HGG Study Group for the Treatment of High Grade Glioma, Diffuse Intrinsic Pontine Glioma, and Gliomatosis Cerebri in Children and Adolescents < 18 Years.(HIT-HGG-2013)	Recruiting	NCT03243461	Phase 3	Temozolomide + Valproic Acid
4	A Multicenter, Prospective, Open and Single Arm Clinical Study of Nimotuzumab Combined With Concurrent Radiochemotherapy in the Treatment of Newly Diagnosed Diffuse Intrinsic Pontine Glioma (DIPG) in Children	Recruiting	NCT04532229	Phase 3	Nimotuzumab+CRT(concurrent IMRT and TMZ)
5	Biological Medicine for Diffuse Intrinsic Pontine Glioma (DIPG) Eradication	Unknown status	NCT02233049	Phase 2	Erlotinib;Everolimus;Dasatinib
6	A Phase I/ II Clinical Trial of MDV9300 (Pidilizumab) in Diffuse Intrinsic Pontine Glioma	Unknown status	NCT01952769	Phase 1, Phase 2
7	An Open Label Single Arm Phase I/II Study of MTX110 Delivered by Convection-enhanced Delivery (CED) in Patients With Diffuse Intrinsic Pontine Glioma (DIPG) Previously Treated With External Beam Radiation Therapy	Completed	NCT03566199	Phase 1, Phase 2	Panobinostat Nanoparticle Formulation MTX110;Convection-Enhanced Delivery (CED)
8	Phase 2 Study of Safety and Efficacy of Nimotuzumab (TheraCIM®) in Pediatric Patients With Recurrent Diffuse Intrinsic Pontine Glioma	Completed	NCT00600054	Phase 2
9	Palliative Re-irradiation for Progressive Diffuse Intrinsic Pontine Glioma (DIPG) in Children	Completed	NCT01777633	Phase 1, Phase 2
10	A Phase 1/2 Study of Suberoylanilide Hydroxamic Acid (SAHA, Vorinostat) and Local Irradiation, Followed by Maintenance SAHA in Children With Newly Diagnosed Diffuse Intrinsic Pontine Gliomas (DIPG)	Completed	NCT01189266	Phase 1, Phase 2	Vorinostat
11	A Phase II Study of Pegylated Interferon Alfa-2b (Peg-Intron (TM)) in Children With Diffuse Pontine Gliomas	Completed	NCT00036569	Phase 2
12	A Phase 2 Study of Valproic Acid and Radiation, Followed by Maintenance Valproic Acid and Bevacizumab in Children With Newly Diagnosed High-grade Gliomas or Brainstem Gliomas	Completed	NCT00879437	Phase 2	Valproic acid;Bevacizumab
13	A Phase 1/2 Study of DSP-7888 in Pediatric Patients With Relapsed or Refractory High Grade Gliomas	Completed	NCT02750891	Phase 1, Phase 2	DSP-7888
14	Phase I/II Study of Reirradiation of Recurrent or Progressive Brainstem Glioma	Completed	NCT01469247	Phase 1, Phase 2
15	A Phase I/II Study of ABT-888, An Oral Poly(ADP-ribose) Polymerase Inhibitor, and Concurrent Radiation Therapy, Followed by ABT-888 and Temozolomide, in Children With Newly Diagnosed Diffuse Pontine Gliomas (DIPG)	Completed	NCT01514201	Phase 1, Phase 2	Temozolomide;Veliparib
16	A Combination Therapy Trial Using an Adaptive Platform Design for Children and Young Adults With Diffuse Midline Gliomas (DMGs) Including Diffuse Intrinsic Pontine Gliomas (DIPGs) at Initial Diagnosis, Post-Radiation Therapy and at Time of Progression	Recruiting	NCT05009992	Phase 2	ONC201;Paxalisib
17	Phase IB Clinical Trial to Assess the Safety, Tolerability, and Preliminary Efficacy of AloCELYVIR (Mesenchymal Allogenic Cells + ICOVIR-5) in Children, Adolescent and Young Adults With Newly Diagnosed Diffuse Intrinsic Pontine Glioma (DIPG) in Combination With Radiotherapy or Medulloblastoma in Relapse/Progression in Monotherapy	Recruiting	NCT04758533	Phase 1, Phase 2
18	A Phase 1/2 Trial of Selinexor (KPT-330) and Radiation Therapy in Newly-Diagnosed Pediatric Diffuse Intrinsic Pontine Glioma (DIPG) and High-Grade Glioma (HGG)	Recruiting	NCT05099003	Phase 1, Phase 2	Selinexor
19	A Study of Low Dose Bevacizumab With Conventional Radiotherapy Alone in Diffuse Intrinsic Pontine Glioma	Recruiting	NCT04250064	Phase 2	Bevacizumab Injection
20	A Safety and Pharmacokinetic Study of Single Agent REGN2810 in Pediatric Patients With Relapsed or Refractory Solid or Central Nervous System (CNS) Tumors and a Safety and Efficacy Trial of REGN2810 in Combination With Radiotherapy in Pediatric Patients With Newly Diagnosed Diffuse Intrinsic Pontine Glioma, Newly Diagnosed High-Grade Glioma, or Recurrent High-Grade Glioma	Recruiting	NCT03690869	Phase 1, Phase 2	cemiplimab (monotherapy);cemiplimab (maintenance)
21	Adjuvant Dendritic Cell Immunotherapy Complementing Conventional Therapy for Pediatric Patients With High-grade Glioma and Diffuse Intrinsic Pontine Glioma	Recruiting	NCT04911621	Phase 1, Phase 2
22	A Dose-escalation Study Examining the Safety, Pharmacokinetics, and Preliminary Efficacy of Ascending Drug and Energy Dose Combinations for Sonodynamic Therapy Using SONALA-001 in Combination With Exablate 4000 Type-2 MR-Guided Focused Ultrasound in Subjects With Diffuse Intrinsic Pontine Glioma	Recruiting	NCT05123534	Phase 2
23	PHASE 1/2 STUDY TO EVALUATE PALBOCICLIB (IBRANCE®) IN COMBINATION WITH IRINOTECAN AND TEMOZOLOMIDE OR IN COMBINATION WITH TOPOTECAN AND CYCLOPHOSPHAMIDE IN PEDIATRIC PATIENTS WITH RECURRENT OR REFRACTORY SOLID TUMORS	Recruiting	NCT03709680	Phase 2	Palbociclib;Temozolomide;Irinotecan;Topotecan;Cyclophosphamide
24	Phase 2 Trial of Indoximod With Chemotherapy and Radiation for Children With Progressive Brain Tumors or Newly Diagnosed DIPG	Recruiting	NCT04049669	Phase 2	Indoximod;Temozolomide;Cyclophosphamide;Etoposide;Lomustine
25	Phase 2 Randomized Study of RT and Reirradiation at Relapse vs Multiple Elective RT Courses With Same Concomitant CT for Newly Diagnosed	Recruiting	NCT03620032	Phase 2	Nimotuzumab;Vinorelbine
26	A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas	Recruiting	NCT01837862	Phase 1, Phase 2	Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
27	A Phase 1B/2A Study of the Safety, Tolerability and Initial Efficacy of Oral AMXT 1501 Dicaprate and Intravenous Difluoromethylornithine (DFMO) in Patients With Cancer	Recruiting	NCT05500508	Phase 1, Phase 2	AMXT1501;DFMO
28	Stereotactic Biopsy Split-Course Radiation Therapy - Diffuse Midline Glioma (SPORT-DMG)	Recruiting	NCT05077735	Phase 2
29	H3.3K27M Specific Peptide Vaccine Combined With Poly-ICLC With and Without PD-1 Inhibition Using Nivolumab for the Treatment of Newly Diagnosed HLA-A2 (02:01)+ H3.3K27M Positive Diffuse Intrinsic Pontine Glioma (DIPG) and Newly Diagnosed HLA-A2 (02:01)+ H3.3K27M Positive Gliomas	Active, not recruiting	NCT02960230	Phase 1, Phase 2	Nivolumab
30	A Phase 1/2 Trial of CBL0137 (NSC# 825802) in Patients With Relapsed or Refractory Solid Tumors, Including CNS Tumors and Lymphoma	Active, not recruiting	NCT04870944	Phase 1, Phase 2	FACT Complex-targeting Curaxin CBL0137
31	Phase I/II Study of Lutathera in Pediatric and Young Adult Patients With Recurrent and/or Progressive High-Grade Central Nervous System Tumors and Meningiomas That Express Somatostatin Type2A Receptors and Demonstrate Uptake on DOTATATE PET	Not yet recruiting	NCT05278208	Phase 1, Phase 2	LUTATHERA® (Lutetium Lu 177 dotatate)
32	Phase 2 Trial of a Novel Peptide Vaccine (PEP-CMV) Targeting CMV Antigen for Newly Diagnosed Pediatric High-grade Glioma and Diffuse Intrinsic Pontine Glioma and Recurrent Medulloblastoma	Not yet recruiting	NCT05096481	Phase 2	Temozolomide
33	A Phase 2 Study of Atengenal (A-10) and Astugenal (AS2-1) in Diffuse, Intrinsic Pontine Glioma (DIPG)	Suspended	NCT02742883	Phase 2	Antineoplaston therapy (Atengenal + Astugenal)
34	An Open-label, Single-arm, Phase II Study to Evaluate Safety and Efficacy of Doxorubicin in Combination With Radiotherapy, Temozolomide and Valproic Acid in Patients With Glioblastoma Multiforme (GBM) and Diffuse Intrinsic Pontine Glioma (DIPG)	Terminated	NCT02758366	Phase 2	Doxorubicin
35	A Molecular Biology and Phase II Study of Imetelstat (GRN163L) in Children With Recurrent High-Grade Glioma, Ependymoma and Diffuse Intrinsic Pontine Glioma	Terminated	NCT01836549	Phase 2	imetelstat sodium
36	A Phase I/II Study of Ribociclib, a CDK4/6 Inhibitor, Following Radiation Therapy in Children With Newly Diagnosed Non-biopsied Diffuse Pontine Gliomas (DIPG) and RB+ Biopsied DIPG and High Grade Gliomas (HGG)	Terminated	NCT02607124	Phase 1, Phase 2	Ribociclib
37	A Phase I/II Study of Ad-RTS-hIL-12, an Inducible Adenoviral Vector Engineered to Express hIL-12 in the Presence of the Activator Ligand Veledimex in Pediatric Brain Tumor Subjects	Terminated	NCT03330197	Phase 1, Phase 2	Oral Veledimex - Arm 1 (Pediatric Brain Tumor);Oral Veledimex - Arm 2 (DIPG)
38	Phase II Trial of Molecularly Determined Treatment of Children and Young Adults With Newly Diagnosed Diffuse Intrinsic Pontine Gliomas	Terminated	NCT01182350	Phase 2	Bevacizumab;Erlotinib;Temozolomide
39	Phase I/II Trial Of Super-Selective Intraarterial Infusion Of Erbitux (Cetuximab) And Avastin (Bevacizumab)For Treatment Of Relapsed/Refractory Intracranial Glioma In Patients Under 22 Years Of Age	Terminated	NCT01884740	Phase 1, Phase 2	SIACI of Erbitux and Bevacizumab
40	Cilengitide and Metronomic Temozolomide for Relapsed or Refractory High Grade Gliomas or Diffuse Intrinsic Pontine Gliomas in Children and Adolescents - A Phase II Study HIT-HGG-CilMetro - A Clinical Phase II Trial of the HIT-HGG Study Group -	Terminated	NCT01517776	Phase 2	Cilengitide;Temozolomide
41	A Phase 2 Study of Panobinostat in Combination With Everolimus for Children and Young Adults With Gliomas Harboring H3.3 or H3.1 K27M Mutation	Withdrawn	NCT03632317	Phase 2	Panobinostat;Everolimus
42	Phase Ib Clinical Trial on the Safety of Immunotherapy With Autologous Dendritic Cells Primed With Lysate Allogeneic Tumor Lines in Patients With Diffuse Intrinsic Pontine Glioma (DIPG)	Unknown status	NCT02840123	Phase 1
43	Phase I Trial of DNX-2401 for Diffuse Intrinsic Pontine Glioma Newly Diagnosed in Pediatric Patients.	Unknown status	NCT03178032	Phase 1
44	Platelet Derived Growth Factor Receptor (PDGFR) Inhibitor Crenolanib in Children and Young Adults With Newly Diagnosed Diffuse Intrinsic Pontine Glioma or Recurrent High-Grade Glioma Including Diffuse Intrinsic Pontine Glioma	Completed	NCT01393912	Phase 1	Crenolanib
45	A Phase I and Surgical Study of Ribociclib and Everolimus (RAD001) in Children With Recurrent or Refractory Malignant Brain Tumors	Completed	NCT03387020	Phase 1	Everolimus;Ribociclib
46	A Phase I and Early Efficacy Study of Convection Enhanced Delivery of Irinotecan Liposome Injection Using Real Time Imaging With Gadolinium in Children With Diffuse Intrinsic Pontine Glioma	Completed	NCT03086616	Phase 1	Convection Enhanced Delivery (CED) of Nanoliposomal irinotecan (nal-IRI)
47	Cilengitide (EMD121974) in Combination With Irradiation in Children and Young Adults With Newly Diagnosed Diffuse Intrinsic Pontine Glioma: Phase I Study	Completed	NCT01165333	Phase 1	Cilengitide dose escalation;Cilengitide
48	Phase I Study of the Combination of Vandetanib and Dasatinib Administered During and After Radiation Therapy in Children With Diffuse Intrinsic Pontine Glioma	Completed	NCT00996723	Phase 1	vandetanib and dasatinib
49	Intra-arterial Chemotherapy for the Treatment of Progressive Diffuse Intrinsic Pontine Gliomas (DIPG).	Completed	NCT01688401	Phase 1	Melphalan hydrochloride
50	A Phase I Trial of Lenalidomide and Radiotherapy in Children With Diffuse Intrinsic Pontine Gliomas and High-grade Gliomas	Completed	NCT01222754	Phase 1	Lenalidomide

Search NIH Clinical Center for Diffuse Midline Glioma, H3 K27m-Mutant

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Genetic Tests for Diffuse Midline Glioma, H3 K27m-Mutant

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Anatomical Context for Diffuse Midline Glioma, H3 K27m-Mutant

Organs/tissues related to Diffuse Midline Glioma, H3 K27m-Mutant:

MalaCards : Spinal Cord, Brain, Pons, T Cells, Eye, Hypothalamus, Pineal

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Publications for Diffuse Midline Glioma, H3 K27m-Mutant

Articles related to Diffuse Midline Glioma, H3 K27m-Mutant:

(show top 50) (show all 761)

#	Title	Authors	PMID	Year
1	Comparison of Sonication Patterns and Microbubble Administration Strategies for Focused Ultrasound-Mediated Large-Volume Drug Delivery. ⁶²	Gong Y...Chen H	35476579	2022
2	5-ALA fluorescence in randomly selected pediatric brain tumors assessed by spectroscopy and surgical microscope. ⁶²	Milos P...Wardell K	36242636	2022
3	Intraventricular B7-H3 CAR T cells for diffuse intrinsic pontine glioma: preliminary first-in-human bioactivity and safety. ⁶²	Vitanza NA...Park JR	36259971	2022
4	H3F3A K27M Mutation Promotes the Infiltrative Growth of High-Grade Glioma in Adults by Activating β-Catenin/USP1 Signaling. ⁶²	Sun Z...Shi H	36230759	2022
5	Biopsy of paediatric brainstem intrinsic tumours: Experience from a Singapore Children's Hospital. ⁶²	Lim YG...Low SY	36228504	2022
6	Tasadenoturev active in DIPG. ⁶²	Sidaway P	35869159	2022
7	A microRNA Prognostic Signature in Patients with Diffuse Intrinsic Pontine Gliomas through Non-Invasive Liquid Biopsy. ⁶²	Ianno MF...De Cecco L	36077842	2022
8	DIPG- Very Long-Term Survivors - are There Factors Which May Predict a Better Outcome? ⁶²	Stock A...Wiegering VA	36162411	2022
9	Volumetric endpoints in diffuse intrinsic pontine glioma: comparison to cross-sectional measures and outcome correlations in the International DIPG/DMG Registry. ⁶²	Lazow MA...Leach JL	35148393	2022
10	No wrong decisions in an all-wrong situation. A qualitative study on the lived experiences of families of children with diffuse intrinsic pontine glioma. ⁶²	De Clercq E...Streuli J	35652529	2022
11	Oncolytic Viral Therapy Is Feasible in Diffuse Intrinsic Pontine Glioma. ⁶²		35801932	2022
12	The intrinsic and microenvironmental features of diffuse midline glioma: Implications for the development of effective immunotherapeutic treatment strategies. ⁶²	Persson ML...Dun MD	35481923	2022
13	Context-dependent tumor-suppressive BMP signaling in diffuse intrinsic pontine glioma regulates stemness through epigenetic regulation of CXXC5. ⁶²	Sun Y...Xi Q	35915262	2022
14	Infusion-related side-effects during convection enhanced delivery for brainstem-diffuse midline glioma/diffuse intrinsic pontine glioma. ⁶²	Hollingworth M...Zacharoulis S	35933568	2022
15	Upfront Biology-Guided Therapy in Diffuse Intrinsic Pontine Glioma: Therapeutic, Molecular, and Biomarker Outcomes from PNOC003. ⁶²	Kline C...Mueller S	35852795	2022
16	PRC2-indepdendent actions of H3.3K27M in embryonic stem cell differentiation. ⁶²	Cohen LRZ...Meshorer E	36156096	2022
17	Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting. ⁶²	Nagar G...Singh IK	36003055	2022
18	Leptomeningeal and subependymal seeding of diffuse intrinsic pontine glioma: a case report. ⁶²	Parenrengi MA...Suryaningtyas W	35290487	2022
19	Immunogenic Cell Death Enhances Immunotherapy of Diffuse Intrinsic Pontine Glioma: From Preclinical to Clinical Studies. ⁶²	Liu G...Guo D	36145510	2022
20	Single-cell epigenetic analysis reveals principles of chromatin states in H3.3-K27M gliomas. ⁶²	Harpaz N...Shema E	35716669	2022
21	Enhancing GD2 CAR T-cell therapy with IGF-1R blockade: Are DIPG CAR T cells ready for combinatorial therapy? ⁶²	Franson A...Koschmann C	35323961	2022
22	Treatment Limitations for Pediatric Diffuse Intrinsic Pontine Gliomas in a Middle-Income Country. ⁶²	Baquero-Herrera PE...Ordonez-Rubiano EG	35945995	2022
23	The Novel Monooxygenase Gene dipD in the dip Gene Cluster of Alcaligenes faecalis JQ135 Is Essential for the Initial Catabolism of Dipicolinic Acid. ⁶²	Mu Y...Qiu J	35766505	2022
24	Dual IGF1R/IR inhibitors in combination with GD2-CAR T-cells display a potent anti-tumor activity in diffuse midline glioma H3K27M-mutant. ⁶²	de Billy E...Vinci M	34964902	2022
25	Discovery of Novel Pyrazolopyrimidines as Potent, Selective, and Orally Bioavailable Inhibitors of ALK2. ⁶²	Nguyen MH...Yao W	35859885	2022
26	Functionalized Macrophage Exosomes with Panobinostat and PPM1D-siRNA for Diffuse Intrinsic Pontine Gliomas Therapy. ⁶²	Shan S...Liang XJ	35585670	2022
27	A practical solution to estimate the sample size required for clinical prediction models generated from observational research on data. ⁶²	Baeza-Delgado C...Marti-Bonmati L	35641659	2022
28	Radiomic Features Based on MRI Predict Progression-Free Survival in Pediatric Diffuse Midline Glioma/Diffuse Intrinsic Pontine Glioma. ⁶²	Wagner MW...Ertl-Wagner BB	35768942	2022
29	Oncolytic DNX-2401 Virus for Pediatric Diffuse Intrinsic Pontine Glioma. ⁶²	Gallego Perez-Larraya J...Alonso MM	35767439	2022
30	Diffuse Midline Gliomas With Histone H3 K27M Mutation in Adults and Children: A Retrospective Series of 164 Cases. ⁶²	Zheng L...Chen N	35416795	2022
31	Hypofractionated Radiation Therapy For Diffuse Intrinsic Pontine Glioma: A Noninferiority Randomized Study Including 253 Children. ⁶²	Zaghloul MS...Eldebawy E	35150788	2022
32	A homogeneous treatment for non-DIPG diffuse midline glioma. ⁶²	Schiavello E...Massimino M	35708347	2022
33	Coping with Diffuse Intrinsic Pontine Glioma in Children - Findings from an Interview Study on Bereaved Parents. ⁶²	Radlanski K...Kordes U	35654395	2022
34	Characteristics of Children ≤36 Months of Age with Diffuse Intrinsic Pontine Glioma (DIPG): A Report from the International DIPG Registry. ⁶²	Bartlett A...Fouladi M	35552452	2022
35	Quantitative Sodium (23Na) MRI in Pediatric Gliomas: Initial Experience. ⁶²	Bhatia A...Panigrahy A	35626378	2022
36	Palliative and end-of-life symptoms management for children with diffuse intrinsic pontine glioma. ⁶²	Elhemaly A...Zaghloul MS	35193393	2022
37	Histone H3.3 K27M chromatin functions implicate a network of neurodevelopmental factors including ASCL1 and NEUROD1 in DIPG. ⁶²	Lewis NA...Knoepfler PS	35590427	2022
38	Diffuse Intrinsic Pontine Glioma: Molecular Landscape, Evolving Treatment Strategies and Emerging Clinical Trials. ⁶²	Damodharan S...Dey M	35629262	2022
39	Mechanistic Insights into Deregulated TGF-β Family Signalling in Human Disease. ⁶²	Hill CS...Jones C	35554739	2022
40	Accuracy of central neuro-imaging review of DIPG compared with histopathology in the International DIPG Registry. ⁶²	Lazow MA...Leach JL	34668975	2022
41	The H3K27M mutation alters stem cell growth, epigenetic regulation, and differentiation potential. ⁶²	Kfoury-Beaumont N...Kroll KL	35637482	2022
42	Exploiting 4-1BB immune checkpoint to enhance the efficacy of oncolytic virotherapy for diffuse intrinsic pontine gliomas. ⁶²	Laspidea V...Alonso MM	35393952	2022
43	Advances in Chimeric Antigen Receptor (CAR) T-Cell Therapies for the Treatment of Primary Brain Tumors. ⁶²	Mount CW...Gonzalez Castro LN	35645204	2022
44	Phase I/II trial of vorinostat and radiation and maintenance vorinostat in children with diffuse intrinsic pontine glioma: A Children's Oncology Group report. ⁶²	Su JM...Fouladi M	34347089	2022
45	Adult diffuse intrinsic pontine glioma: clinical, radiological, pathological, molecular features, and treatments of 96 patients. ⁶²	Wang Y...Zhang L	35395636	2022
46	Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations. ⁶²	Lazow MA...Fuller C	33974582	2022
47	Focused Ultrasound for Pediatric Diseases. ⁶²	Janwadkar R...Sharma K	35229123	2022
48	The effects of glycols on molecular mobility, structure, and permeability in stratum corneum. ⁶²	Kis N...Sparr E	35150813	2022
49	DIPG Harbors Alterations Targetable by MEK Inhibitors, with Acquired Resistance Mechanisms Overcome by Combinatorial Inhibition. ⁶²	Izquierdo E...Jones C	34737188	2022
50	Diffuse intrinsic pontine gliomas in adults: A retrospective study. ⁶²	Kandregula S...Santosh V	35532623	2022

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Genes for Diffuse Midline Glioma, H3 K27m-Mutant

Genes related to Diffuse Midline Glioma, H3 K27m-Mutant (2 elite genes):

(show all 42)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CHEK2	Checkpoint Kinase 2	Protein Coding	404.05	Pathogenic ⁵ DISEASES inferred ¹⁴
2	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	403.78	Pathogenic ⁵ DISEASES inferred ¹⁴
3	BRIP1	BRCA1 Interacting Helicase 1	Protein Coding	25	Likely pathogenic ⁵
4	H2AC18	H2A Clustered Histone 18	Protein Coding	10.71	DISEASES inferred ¹⁴ ¹⁴
5	H3C6	H3 Clustered Histone 6	Protein Coding	8.84	DISEASES inferred ¹⁴
6	H3C3	H3 Clustered Histone 3	Protein Coding	8.84	DISEASES inferred ¹⁴
7	H3C4	H3 Clustered Histone 4	Protein Coding	8.84	DISEASES inferred ¹⁴
8	H3-3A	H3.3 Histone A	Protein Coding	8.83	DISEASES inferred ¹⁴
9	H3-3B	H3.3 Histone B	Protein Coding	8.82	DISEASES inferred ¹⁴
10	H3C2	H3 Clustered Histone 2	Protein Coding	8.42	DISEASES inferred ¹⁴
11	H3C11	H3 Clustered Histone 11	Protein Coding	8.39	DISEASES inferred ¹⁴
12	H3C10	H3 Clustered Histone 10	Protein Coding	8.38	DISEASES inferred ¹⁴
13	H3C12	H3 Clustered Histone 12	Protein Coding	8.38	DISEASES inferred ¹⁴
14	H3C1	H3 Clustered Histone 1	Protein Coding	8.38	DISEASES inferred ¹⁴
15	H3C8	H3 Clustered Histone 8	Protein Coding	8.38	DISEASES inferred ¹⁴
16	H3C7	H3 Clustered Histone 7	Protein Coding	8.38	DISEASES inferred ¹⁴
17	ACVR1	Activin A Receptor Type 1	Protein Coding	8.07	DISEASES inferred ¹⁴
18	H3-7	H3.7 Histone (Putative)	Protein Coding	7.39	DISEASES inferred ¹⁴
19	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	7.3	DISEASES inferred ¹⁴
20	ATRX	ATRX Chromatin Remodeler	Protein Coding	7.24	DISEASES inferred ¹⁴
21	IDH1	Isocitrate Dehydrogenase (NADP(+)) 1	Protein Coding	6.9	DISEASES inferred ¹⁴
22	H3C14	H3 Clustered Histone 14	Protein Coding	6.78	DISEASES inferred ¹⁴
23	H3C15	H3 Clustered Histone 15	Protein Coding	6.78	DISEASES inferred ¹⁴
24	H3C13	H3 Clustered Histone 13	Protein Coding	6.78	DISEASES inferred ¹⁴
25	EZH2	Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit	Protein Coding	6.74	DISEASES inferred ¹⁴
26	OLIG2	Oligodendrocyte Transcription Factor 2	Protein Coding	6.67	DISEASES inferred ¹⁴
27	TP53	Tumor Protein P53	Protein Coding	6.59	DISEASES inferred ¹⁴
28	MGMT	O-6-Methylguanine-DNA Methyltransferase	Protein Coding	6.54	DISEASES inferred ¹⁴
29	PPM1D	Protein Phosphatase, Mg2+/Mn2+ Dependent 1D	Protein Coding	6.49	DISEASES inferred ¹⁴
30	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	6.48	DISEASES inferred ¹⁴
31	KDM6B	Lysine Demethylase 6B	Protein Coding	6.42	DISEASES inferred ¹⁴
32	RAB6C	RAB6C, Member RAS Oncogene Family	Protein Coding	6.42	DISEASES inferred ¹⁴
33	KIAA1549	KIAA1549	Protein Coding	6.35	DISEASES inferred ¹⁴
34	EGFR	Epidermal Growth Factor Receptor	Protein Coding	6.26	DISEASES inferred ¹⁴
35	NES	Nestin	Protein Coding	6.18	DISEASES inferred ¹⁴
36	DAXX	Death Domain Associated Protein	Protein Coding	6.16	DISEASES inferred ¹⁴
37	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	6.1	DISEASES inferred ¹⁴
38	NF1	Neurofibromin 1	Protein Coding	5.98	DISEASES inferred ¹⁴
39	IDH2	Isocitrate Dehydrogenase (NADP(+)) 2	Protein Coding	5.97	DISEASES inferred ¹⁴
40	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	5.91	DISEASES inferred ¹⁴
41	SETD2	SET Domain Containing 2, Histone Lysine Methyltransferase	Protein Coding	5.89	DISEASES inferred ¹⁴
42	LCOR	Ligand Dependent Nuclear Receptor Corepressor	Protein Coding	5.88	DISEASES inferred ¹⁴ ¹⁴

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Variations for Diffuse Midline Glioma, H3 K27m-Mutant

ClinVar genetic disease variations for Diffuse Midline Glioma, H3 K27m-Mutant:

IMPROVED

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ACVR1	NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val)	SNV	Other	376363	rs387906589	GRCh37: 2:158622516-158622516 GRCh38: 2:157766004-157766004
2	BRCA2	NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)	MICROSAT	Pathogenic	51653	rs80359454	GRCh37: 13:32912965-32912968 GRCh38: 13:32338828-32338831
3	CHEK2	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	DEL	Pathogenic	128042	rs555607708	GRCh37: 22:29091857-29091857 GRCh38: 22:28695869-28695869
4	BRIP1	NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	SNV	Likely Pathogenic	30535	rs149364097	GRCh37: 17:59878709-59878709 GRCh38: 17:61801348-61801348
5	NF1	NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)	SNV	Uncertain Significance	220148	rs751795238	GRCh37: 17:29552155-29552155 GRCh38: 17:31225137-31225137

Cosmic variations for Diffuse Midline Glioma, H3 K27m-Mutant:

⁸ (show top 50) (show all 20001)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM85192834	ZW10	central nervous system,brain,glioma,NS	c.2140C>T	p.P714S	11:113736699-113736699	8
2	COSM86922763	ZSWIM4	central nervous system,brain,glioma,NS	c.266C>T	p.P89L	19:13799832-13799832	8
3	COSM88263742	ZRSR2	central nervous system,brain,glioma,NS	c.340C>T	p.Q114*	23:15804138-15804138	8
4	COSM88261602	ZRSR2	central nervous system,brain,glioma,NS	c.961C>T	p.P321S	23:15822754-15822754	8
5	COSM88263021	ZRSR2	central nervous system,brain,glioma,NS	c.260G>A	p.R87K	23:15803744-15803744	8
6	COSM88261596	ZRSR2	central nervous system,brain,glioma,NS	c.271G>A	p.E91K	23:15803755-15803755	8
7	COSM88262556	ZRSR2	central nervous system,brain,glioma,NS	c.220G>A	p.E74K	23:15803704-15803704	8
8	COSM87830624	ZPLD1	central nervous system,brain,glioma,NS	c.393A>T	p.G131=	3:102456210-102456210	8
9	COSM119316158	ZPLD1	central nervous system,brain,glioma,NS	c.345A>T	p.G115=	3:102456210-102456210	8
10	COSM116178212	ZPLD1	central nervous system,brain,glioma,NS	c.345A>T	p.G115=	3:102456210-102456210	8
11	COSM106156998	ZNF697	central nervous system,brain,glioma,NS	c.1550G>A	p.G517D	1:119622793-119622793	8
12	COSM93171584	ZNF687	central nervous system,brain,glioma,NS	c.3651C>T	p.T1217=	1:151291146-151291146	8
13	COSM93173649	ZNF687	central nervous system,brain,glioma,NS	c.2044T>A	p.C682S	1:151288335-151288335	8
14	COSM93173639	ZNF687	central nervous system,brain,glioma,NS	c.2043G>C	p.Q681H	1:151288334-151288334	8
15	COSM92762364	ZNF507	central nervous system,brain,glioma,NS	c.1517G>C	p.R506T	19:32354347-32354347	8
16	COSM91851905	ZNF507	central nervous system,brain,glioma,NS	c.1517G>C	p.R506T	19:32354347-32354347	8
17	COSM130988554	ZNF507	central nervous system,brain,glioma,NS	c.1517G>C	p.R506T	19:32354347-32354347	8
18	COSM141250987	ZNF473	central nervous system,brain,glioma,NS	c.42C>T	p.D14=	19:50039193-50039193	8
19	COSM84172269	ZNF473	central nervous system,brain,glioma,NS	c.42C>T	p.D14=	19:50039193-50039193	8
20	COSM141790125	ZNF473	central nervous system,brain,glioma,NS	c.42C>T	p.D14=	19:50039193-50039193	8
21	COSM99924035	ZNF473	central nervous system,brain,glioma,NS	c.42C>T	p.D14=	19:50039193-50039193	8
22	COSM111538647	ZNF473	central nervous system,brain,glioma,NS	c.6C>T	p.D2=	19:50039193-50039193	8
23	COSM84507966	ZNF276	central nervous system,brain,glioma,NS	c.*664G>A	p.?	16:89738910-89738910	8
24	COSM102909520	ZMYND8	central nervous system,brain,glioma,NS	c.2116G>A	p.D706N	20:47246116-47246116	8
25	COSM116582422	ZMYND8	central nervous system,brain,glioma,NS	c.2176G>A	p.D726N	20:47246116-47246116	8
26	COSM92864918	ZMYND8	central nervous system,brain,glioma,NS	c.2102T>G	p.V701G	20:47246130-47246130	8
27	COSM111370233	ZMYND8	central nervous system,brain,glioma,NS	c.2116G>A	p.D706N	20:47246116-47246116	8
28	COSM91410147	ZMYND8	central nervous system,brain,glioma,NS	c.2116G>A	p.D706N	20:47246116-47246116	8
29	COSM97055096	ZMYND8	central nervous system,brain,glioma,NS	c.1913T>G	p.V638G	20:47246130-47246130	8
30	COSM112970642	ZMYND8	central nervous system,brain,glioma,NS	c.2176G>A	p.D726N	20:47246116-47246116	8
31	COSM92871777	ZMYND8	central nervous system,brain,glioma,NS	c.2116G>A	p.D706N	20:47246116-47246116	8
32	COSM85475347	ZMYND8	central nervous system,brain,glioma,NS	c.2102T>G	p.V701G	20:47246130-47246130	8
33	COSM143801239	ZMYND8	central nervous system,brain,glioma,NS	c.2041G>A	p.D681N	20:47246116-47246116	8
34	COSM114834078	ZMYND8	central nervous system,brain,glioma,NS	c.2087T>G	p.V696G	20:47246130-47246130	8
35	COSM114839982	ZMYND8	central nervous system,brain,glioma,NS	c.2101G>A	p.D701N	20:47246116-47246116	8
36	COSM91535436	ZMYND8	central nervous system,brain,glioma,NS	c.2176G>A	p.D726N	20:47246116-47246116	8
37	COSM91528627	ZMYND8	central nervous system,brain,glioma,NS	c.2162T>G	p.V721G	20:47246130-47246130	8
38	COSM133275210	ZMYND8	central nervous system,brain,glioma,NS	c.1960G>A	p.D654N	20:47246116-47246116	8
39	COSM143618110	ZMYND8	central nervous system,brain,glioma,NS	c.2116G>A	p.D706N	20:47246116-47246116	8
40	COSM111362863	ZMYND8	central nervous system,brain,glioma,NS	c.2102T>G	p.V701G	20:47246130-47246130	8
41	COSM91401933	ZMYND8	central nervous system,brain,glioma,NS	c.2102T>G	p.V701G	20:47246130-47246130	8
42	COSM130874736	ZMYND8	central nervous system,brain,glioma,NS	c.2197G>A	p.D733N	20:47246116-47246116	8
43	COSM116576154	ZMYND8	central nervous system,brain,glioma,NS	c.2162T>G	p.V721G	20:47246130-47246130	8
44	COSM143862983	ZMYND8	central nervous system,brain,glioma,NS	c.2101G>A	p.D701N	20:47246116-47246116	8
45	COSM143796197	ZMYND8	central nervous system,brain,glioma,NS	c.2027T>G	p.V676G	20:47246130-47246130	8
46	COSM102902986	ZMYND8	central nervous system,brain,glioma,NS	c.2102T>G	p.V701G	20:47246130-47246130	8
47	COSM133265728	ZMYND8	central nervous system,brain,glioma,NS	c.1946T>G	p.V649G	20:47246130-47246130	8
48	COSM85483642	ZMYND8	central nervous system,brain,glioma,NS	c.2116G>A	p.D706N	20:47246116-47246116	8
49	COSM112964306	ZMYND8	central nervous system,brain,glioma,NS	c.2162T>G	p.V721G	20:47246130-47246130	8
50	COSM143856741	ZMYND8	central nervous system,brain,glioma,NS	c.2087T>G	p.V696G	20:47246130-47246130	8

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Expression for Diffuse Midline Glioma, H3 K27m-Mutant

Search GEO for disease gene expression data for Diffuse Midline Glioma, H3 K27m-Mutant.

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Pathways for Diffuse Midline Glioma, H3 K27m-Mutant

Pathways related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

(show all 37)

#	Super pathways	Score	Top Affiliating Genes
1	Gene expression (Transcription) ⁶⁶ Show member pathways Generic Transcription Pathway ⁶⁶ RNA Polymerase II Transcription ⁶⁶	14.14	BRIP1 CHEK2 H2AC18 H3-3A H3-3B H3C1
2	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	14	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
3	Apoptotic Pathways in Synovial Fibroblasts ⁶⁴ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶⁴ Cellular Apoptosis Pathway ⁶⁴ DHA Signaling ⁶⁴ eIF2 Pathway ⁶⁴ ERK5 Signaling ⁶⁴ Glioma Invasiveness ⁶⁴ Mitochondrial Apoptosis ⁶⁴ Nuclear Receptor Activation by Vitamin-A ⁶⁴ p53 Mediated Apoptosis ⁶⁴ PPAR Pathway ⁶⁴ Rac1 Pathway ⁶⁴ Rap1 Pathway ⁶⁴ Telomerase Components in Cell Signaling ⁶⁴	13.95	PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
4	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.94	ACVR1 CHEK2 H3-3A H3-3B H3C1 H3C10
5	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.92	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
6	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.92	ATRX BRCA2 BRIP1 H2AC18 H3-3A H3-3B
7	Signal Transduction ⁶⁶	13.89	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
8	RNA Polymerase I Promoter Opening ⁶⁶ Show member pathways "TET1,2,3 and TDG demethylate DNA" ⁶⁶ Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 ⁶⁶ Activation of anterior HOX genes in hindbrain development during early embryogenesis ⁶⁶ Activation of HOX genes during differentiation ⁶⁶ Amyloid fiber formation ⁶⁶ Assembly of the ORC complex at the origin of replication ⁶⁶ Binding of TCF/LEF:CTNNB1 to target gene promoters ⁶⁶ B-WICH complex positively regulates rRNA expression ⁶⁶ Condensation of Prophase Chromosomes ⁶⁶ Defective pyroptosis ⁶⁶ Diseases of programmed cell death ⁶⁶ DNA methylation ⁶⁶ Epigenetic regulation of gene expression ⁶⁶ ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression ⁶⁶ Formation of the beta-catenin:TCF transactivating complex ⁶⁶ HDACs deacetylate histones ⁶⁶ HDMs demethylate histones ⁶⁶ Negative epigenetic regulation of rRNA expression ⁶⁶ NoRC negatively regulates rRNA expression ⁶⁶ Positive epigenetic regulation of rRNA expression ⁶⁶ PRC2 methylates histones and DNA ⁶⁶ RHO GTPases activate PKNs ⁶⁶ RMTs methylate histone arginines ⁶⁶ RNA Polymerase I Promoter Clearance ⁶⁶ RNA Polymerase I Promoter Escape ⁶⁶ RNA Polymerase I Transcription ⁶⁶ RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function ⁶⁶ SIRT1 negatively regulates rRNA expression ⁶⁶ Transcriptional regulation of granulopoiesis ⁶⁶	13.87	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
9	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.81	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
10	Signaling by Rho GTPases ⁶⁶ Show member pathways "Signaling by Rho GTPases, Miro GTPases and RHOBTB3" ⁶⁶ RHO GTPase cycle ⁶⁶ RHO GTPase Effectors ⁶⁶	13.79	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
11	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.69	H3-3A H3-3B H3C1 H3C10 H3C11 H3C12
12	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.67	PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
13	Cellular responses to stimuli ⁶⁶ Show member pathways Cellular responses to stress ⁶⁶	13.62	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
14	Prolactin Signaling ⁶⁴ Show member pathways "EGFR Inhibitor Pathway, Pharmacodynamics" ⁶⁰ Development Prolactin receptor signaling ²² EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.62	PDGFRA H3C8 H3C7 H3C6 H3C4 H3C3
15	"Cell Cycle, Mitotic" ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	13.61	ATRX BRCA2 BRIP1 CHEK2 H2AC18 H3-3A
16	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways "Platelet activation, signaling and aggregation" ⁶⁶ Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet degranulation ⁶⁶	13.44	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
17	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.43	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
18	Assembly of the pre-replicative complex ⁶⁶ Show member pathways DNA Replication ⁶⁶ DNA Replication Pre-Initiation ⁶⁶ RUNX1 regulates transcription of genes involved in differentiation of HSCs ⁶⁶ Transcriptional regulation by RUNX1 ⁶⁶	13.29	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
19	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Factors involved in megakaryocyte development and platelet production ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶ MHC class II antigen presentation ⁶⁶	13.25	H3-3A H3-3B H3C1 H3C10 H3C11 H3C12
20	RNA Polymerase II Transcription Initiation And Promoter Clearance ⁶⁶ Show member pathways Assembly of RNA Polymerase-II Initiation Complex ⁶⁴ Crosstalk Between CARM1 and ESRs ⁶⁴ Eukaryotic transcription initiation ⁷⁴ HIV Transcription Initiation ⁶⁶ Protein Acetylation and Deacetylation ⁶⁴ RNA Polymerase II HIV Promoter Escape ⁶⁶ RNA Polymerase II Promoter Escape ⁶⁶ RNA Polymerase II Transcription Initiation ⁶⁶ RNA Polymerase II Transcription Pre-Initiation And Promoter Opening ⁶⁶ Transcription Ligand-Dependent Transcription of Retinoid-Target genes ²² Transcription of mRNA ⁶⁴	13.18	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
21	Chromatin organization ⁶⁶ Show member pathways Chromatin modifying enzymes ⁶⁶ HATs acetylate histones ⁶⁶	13.17	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
22	ESR-mediated signaling ⁶⁶ Show member pathways Estrogen-dependent gene expression ⁶⁶ RUNX1 regulates estrogen receptor mediated transcription ⁶⁶ Signaling by Nuclear Receptors ⁶⁶	13.15	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
23	Cellular Senescence ⁶⁶ Show member pathways Oxidative Stress Induced Senescence ⁶⁶ Senescence-Associated Secretory Phenotype (SASP) ⁶⁶	12.97	H3C6 H3C7 H3C8 H2AC18 H3-3A H3-3B
24	Pre-NOTCH Expression and Processing ⁶⁶ Show member pathways Defective LFNG causes SCDO3 ⁶⁶ Pre-NOTCH Processing in Golgi ⁶⁶ Pre-NOTCH Processing in the Endoplasmic Reticulum ⁶⁶ Pre-NOTCH Transcription and Translation ⁶⁶ Signaling by NOTCH ⁶⁶	12.96	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
25	Gene Silencing by RNA ⁶⁶ Show member pathways "tRNA-derived small RNA (tsRNA or tRNA-related fragment, tRF) biogenesis" ⁶⁶ Golgi Cisternae Pericentriolar Stack Reorganization ⁶⁶ MASTL Facilitates Mitotic Progression ⁶⁶ Mitotic Prophase ⁶⁶ RNAi Pathway ⁶⁴ Small interfering RNA (siRNA) biogenesis ⁶⁶ Transcriptional regulation by small RNAs ⁶⁶	12.94	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
26	Meiosis ⁶⁶ Show member pathways Meiotic recombination ⁶⁶ Meiotic synapsis ⁶⁶ Reproduction ⁶⁶	12.91	BRCA2 H2AC18 H3-3A H3-3B H3C1 H3C10
27	HCMV Infection ⁶⁶ Show member pathways HCMV Early Events ⁶⁶ HCMV Late Events ⁶⁶	12.89	H2AC18 H3C1 H3C10 H3C11 H3C12 H3C2
28	Signaling by WNT ⁶⁶ Show member pathways TCF dependent signaling in response to WNT ⁶⁶	12.72	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
29	DNA Damage ³	12.44	H3C1 CHEK2 BRIP1 BRCA2
30	Chromosome Maintenance ⁶⁶ Show member pathways Telomere Maintenance ⁶⁶	12.37	H3-3B H3-3A H2AC18 ATRX
31	PKMTs methylate histone lysines ⁶⁶ Show member pathways Histone modifications ⁷⁴	12.32	H3C10 H3C11 H3C12 H3C2 H3C3 H3C4
32	DNA IR-damage and cellular response via ATR ⁷⁴	11.75	CHEK2 BRIP1 BRCA2
33	Transcription_Transcription factor Tubby signaling pathways ²²	11.56	H3-3A H3-3B H3C1 H3C10 H3C11 H3C12
34	FBXL10 enhancement of MAP/ERK signaling in diffuse large B-cell lymphoma ⁷⁴	11.54	H3-3A H3-3B H3C1 H3C10 H3C11 H3C12
35	Interleukin-7 signaling ⁶⁶	11.51	H3C1 H3C10 H3C11 H3C12 H3C2 H3C3
36	Interferon Pathway ⁶⁴	11.36	H3-3A H3-3B H3C1 H3C10 H3C11 H3C12
37	Effect of progerin on genes involved in Hutchinson-Gilford progeria syndrome ⁷⁴	11.3	H3-3A H3-3B H3C1 H3C10 H3C11 H3C12

Sources

GO Terms for Diffuse Midline Glioma, H3 K27m-Mutant

Cellular components related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.68	ATRX BRCA2 BRIP1 CHEK2 H2AC18 H3-3A
2	nucleoplasm	GO:0005654	10.55	ATRX BRCA2 BRIP1 CHEK2 H3-3A H3-3B
3	extracellular region	GO:0005576	10.54	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
4	extracellular exosome	GO:0070062	10.48	H2AC18 H3-3A H3-3B H3C1 H3C10 H3C11
5	protein-containing complex	GO:0032991	10.3	BRCA2 H3-3A H3-3B H3C1 H3C10 H3C11
6	chromosome, telomeric region	GO:0000781	10.13	ATRX BRCA2 CHEK2 H3-3A H3-3B
7	chromatin	GO:0000785	10.07	H3-3A H3-3B H3-7 H3C1 H3C10 H3C11
8	chromosome	GO:0005694	9.86	ATRX BRCA2 H2AC18 H3-3A H3-3B H3-7
9	nucleosome	GO:0000786	9.77	H2AC18 H3-3A H3-3B H3-7 H3C1 H3C10

Biological processes related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleosome assembly	GO:0006334	10.27	ATRX H3-3A H3-3B H3C1 H3C10 H3C11
2	telomere organization	GO:0032200	10.03	H3-3A H3-3B H3C1 H3C10 H3C11 H3C12
3	epigenetic regulation of gene expression	GO:0040029	9.62	H3C1 H3C10 H3C11 H3C12 H3C2 H3C3

Molecular functions related to Diffuse Midline Glioma, H3 K27m-Mutant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	10.33	ATRX BRCA2 BRIP1 H2AC18 H3-3A H3-3B
2	cadherin binding	GO:0045296	10.3	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
3	structural constituent of chromatin	GO:0030527	10.1	H3C8 H3C7 H3C6 H3C4 H3C3 H3C2
4	protein heterodimerization activity	GO:0046982	9.77	H2AC18 H3-3A H3-3B H3-7 H3C1 H3C10