Teratoma

Summary

Teratoma (MONDO:0002601) is a disease (an umbrella term covering 13 Mondo subtypes) with 26 cohort genes and 18 clinical trials. Top therapeutic interventions include cisplatin, bleomycin sulfate, and 2-mercaptoethanesulfonic acid.

At a glance

• Umbrella term: 13 Mondo subtypes
• Cohort genes: 26
• ClinVar variants: 27
• Clinical trials: 18

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	teratoma
Mondo ID	MONDO:0002601
MeSH	D013724
DOID	DOID:3307
NCIT	C3403
SNOMED CT	36591000119102
UMLS	C0039538
MedGen	21097
GARD	0023184
Is cancer (heuristic)	no

Also known as: teratoma

Data availability: 27 ClinVar variants · 1 cell line.

Disease family

An umbrella term covering 13 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › germ cell tumor › nongerminomatous germ cell tumor › teratoma

Related subtypes (2): malignant non-dysgerminomatous germ cell tumor of ovary, extragonadal non-dysgerminomatous germ cell tumor

Subtypes (13): cystic teratoma, central nervous system teratoma, gastric teratoma, malignant teratoma, fallopian tube teratoma, adult teratoma, mature teratoma, mediastinum teratoma, gonadal teratoma, teratoma with malignant transformation, nasopharyngeal teratoma, immature teratoma, sacrococcygeal teratoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

27 retrieved; paginated sample, class counts are floors:

25 uncertain significance, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
523403	NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter)	CTNNB1	Likely pathogenic	criteria provided, single submitter
523513	NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)	SETBP1	Likely pathogenic	criteria provided, single submitter
2498269	NM_001166693.3(AFF1):c.1594C>T (p.Pro532Ser)	AFF1	Uncertain significance	no assertion criteria provided
2498248	NM_018125.4(ARHGEF10L):c.2137C>T (p.Arg713Cys)	ARHGEF10L	Uncertain significance	no assertion criteria provided
2498259	NM_001271.4(CHD2):c.2953G>A (p.Gly985Arg)	CHD2	Uncertain significance	no assertion criteria provided
2365147	NM_052854.4(CREB3L1):c.434C>T (p.Ser145Leu)	CREB3L1	Uncertain significance	criteria provided, single submitter
2498260	NM_004380.3(CREBBP):c.6485G>A (p.Gly2162Glu)	CREBBP	Uncertain significance	no assertion criteria provided
2498261	NM_004380.3(CREBBP):c.3372C>A (p.Asp1124Glu)	CREBBP	Uncertain significance	no assertion criteria provided
2498254	NM_004397.6(DDX6):c.940G>A (p.Ala314Thr)	DDX6	Uncertain significance	no assertion criteria provided
1769421	NM_001430.5(EPAS1):c.1301C>T (p.Pro434Leu)	EPAS1	Uncertain significance	criteria provided, single submitter
2498265	NM_005235.3(ERBB4):c.2915C>T (p.Ala972Val)	ERBB4	Uncertain significance	no assertion criteria provided
2498255	NM_018638.5(ETNK1):c.416+197C>T	ETNK1	Uncertain significance	no assertion criteria provided
2498270	NM_182925.5(FLT4):c.124G>A (p.Asp42Asn)	FLT4	Uncertain significance	no assertion criteria provided
2498257	NM_002168.4(IDH2):c.1261G>A (p.Gly421Ser)	IDH2	Uncertain significance	criteria provided, single submitter
2498250	NM_006060.6(IKZF1):c.1486G>A (p.Gly496Ser)	IKZF1	Uncertain significance	criteria provided, single submitter
2498268	NM_002253.4(KDR):c.3773C>T (p.Thr1258Met)	KDR	Uncertain significance	no assertion criteria provided
2498256	NM_004985.5(KRAS):c.187G>A (p.Glu63Lys)	KRAS	Uncertain significance	no assertion criteria provided
2498249	NM_004690.4(LATS1):c.2029G>T (p.Ala677Ser)	LATS1	Uncertain significance	no assertion criteria provided
2498253	NM_002568.4(PABPC1):c.367G>T (p.Gly123Cys)	PABPC1	Uncertain significance	no assertion criteria provided
2498267	NM_199420.4(POLQ):c.1339T>C (p.Ser447Pro)	POLQ	Uncertain significance	no assertion criteria provided
2498262	NM_004703.6(RABEP1):c.1768G>A (p.Glu590Lys)	RABEP1	Uncertain significance	no assertion criteria provided
2498266	NM_014159.7(SETD2):c.408G>T (p.Arg136Ser)	SETD2	Uncertain significance	no assertion criteria provided
2498258	NM_033102.3(SLC45A3):c.1412G>A (p.Arg471His)	SLC45A3	Uncertain significance	no assertion criteria provided
2498252	NM_014390.4(SND1):c.119G>A (p.Arg40His)	SND1	Uncertain significance	no assertion criteria provided
2498264	NM_005635.4(SSX1):c.403G>A (p.Asp135Asn)	SSX1	Uncertain significance	no assertion criteria provided
2498263	NM_015355.4(SUZ12):c.1918G>A (p.Val640Ile)	SUZ12	Uncertain significance	no assertion criteria provided
2498251	NM_001375524.1(TRRAP):c.8770C>T (p.Arg2924Cys)	TRRAP	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 68 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SSX1	Orphanet:276234	Non-syndromic male infertility due to sperm motility disorder
SSX1	Orphanet:3273	Synovial sarcoma
TRRAP	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
IKZF1	Orphanet:317473	Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
IKZF1	Orphanet:36426	Stevens-Johnson syndrome
IKZF1	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
IKZF1	Orphanet:695172	Combined immunodeficiency due to dimerization defective IKAROS mutation
IKZF1	Orphanet:697414	Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
SETBP1	Orphanet:436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome
SETBP1	Orphanet:798	Schinzel-Giedion syndrome
SUZ12	Orphanet:213711	Endometrial stromal sarcoma
SUZ12	Orphanet:3447	Weaver syndrome
SUZ12	Orphanet:659463	Imagawa-Matsumoto syndrome
SETD2	Orphanet:597738	Luscan-Lumish syndrome
SETD2	Orphanet:597743	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
CREB3L1	Orphanet:216812	Osteogenesis imperfecta type 3
CREB3L1	Orphanet:79105	Myxofibrosarcoma
CHD2	Orphanet:1942	Epilepsy with myoclonic-atonic seizures
CHD2	Orphanet:2382	Lennox-Gastaut syndrome
CREBBP	Orphanet:353277	Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP	Orphanet:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP	Orphanet:370026	Acute myeloid leukemia with t(8;16)(p11;p13) translocation
CREBBP	Orphanet:592574	Menke-Hennekam syndrome
CTNNB1	Orphanet:1501	Adrenocortical carcinoma
CTNNB1	Orphanet:210159	Adult hepatocellular carcinoma
CTNNB1	Orphanet:2780	Osteopathia striata-cranial sclerosis syndrome
CTNNB1	Orphanet:33402	Pediatric hepatocellular carcinoma
CTNNB1	Orphanet:404473	Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
CTNNB1	Orphanet:54595	Craniopharyngioma
CTNNB1	Orphanet:569248	Microcystic stromal tumor
CTNNB1	Orphanet:689430	Adenoid ameloblastoma
CTNNB1	Orphanet:873	Desmoid tumor
CTNNB1	Orphanet:891	Familial exudative vitreoretinopathy
CTNNB1	Orphanet:91414	Pilomatrixoma
CTNNB1	Orphanet:952	Acrofacial dysostosis, Weyers type
DDX6	Orphanet:528084	Non-specific syndromic intellectual disability
EPAS1	Orphanet:247511	Autosomal dominant secondary polycythemia
EPAS1	Orphanet:276621	Sporadic pheochromocytoma/secreting paraganglioma
EPAS1	Orphanet:324299	Multiple paragangliomas associated with polycythemia
ERBB4	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
ERBB4	Orphanet:803	Amyotrophic lateral sclerosis
FLT4	Orphanet:3303	Tetralogy of Fallot
FLT4	Orphanet:79452	Milroy disease
IDH2	Orphanet:163634	Maffucci syndrome
IDH2	Orphanet:251589	Anaplastic astrocytoma
IDH2	Orphanet:251598	Protoplasmic astrocytoma
IDH2	Orphanet:251601	Fibrillary astrocytoma
IDH2	Orphanet:251604	Gemistocytic astrocytoma
IDH2	Orphanet:251627	Oligodendroglioma
IDH2	Orphanet:251630	Anaplastic oligodendroglioma

Cohort genes → proteins

26 cohort genes, 26 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	26

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SSX1	HGNC:11335	ENSG00000126752	Q16384	Protein SSX1	clinvar
TRRAP	HGNC:12347	ENSG00000196367	Q9Y4A5	Transformation/transcription domain-associated protein	clinvar
IKZF1	HGNC:13176	ENSG00000185811	Q13422	DNA-binding protein Ikaros	clinvar
SETBP1	HGNC:15573	ENSG00000152217	Q9Y6X0	SET-binding protein	clinvar
SUZ12	HGNC:17101	ENSG00000178691	Q15022	Polycomb protein SUZ12	clinvar
RABEP1	HGNC:17677	ENSG00000029725	Q15276	Rab GTPase-binding effector protein 1	clinvar
SETD2	HGNC:18420	ENSG00000181555	Q9BYW2	Histone-lysine N-methyltransferase SETD2	clinvar
CREB3L1	HGNC:18856	ENSG00000157613	Q96BA8	Cyclic AMP-responsive element-binding protein 3-like protein 1	clinvar
CHD2	HGNC:1917	ENSG00000173575	O14647	ATP-dependent chromatin remodeler CHD2	clinvar
CREBBP	HGNC:2348	ENSG00000005339	Q92793	CREB-binding protein	clinvar
ETNK1	HGNC:24649	ENSG00000139163	Q9HBU6	Ethanolamine kinase 1	clinvar
CTNNB1	HGNC:2514	ENSG00000168036	P35222	Catenin beta-1	clinvar
ARHGEF10L	HGNC:25540	ENSG00000074964	Q9HCE6	Rho guanine nucleotide exchange factor 10-like protein	clinvar
DDX6	HGNC:2747	ENSG00000110367	P26196	Probable ATP-dependent RNA helicase DDX6	clinvar
SND1	HGNC:30646	ENSG00000197157	Q7KZF4	Staphylococcal nuclease domain-containing protein 1	clinvar
EPAS1	HGNC:3374	ENSG00000116016	Q99814	Endothelial PAS domain-containing protein 1	clinvar
ERBB4	HGNC:3432	ENSG00000178568	Q15303	Receptor tyrosine-protein kinase erbB-4	clinvar
FLT4	HGNC:3767	ENSG00000037280	P35916	Vascular endothelial growth factor receptor 3	clinvar
IDH2	HGNC:5383	ENSG00000182054	P48735	Isocitrate dehydrogenase [NADP], mitochondrial	clinvar
KDR	HGNC:6307	ENSG00000128052	P35968	Vascular endothelial growth factor receptor 2	clinvar
KRAS	HGNC:6407	ENSG00000133703	P01116	GTPase KRas	clinvar
LATS1	HGNC:6514	ENSG00000131023	O95835	Serine/threonine-protein kinase LATS1	clinvar
AFF1	HGNC:7135	ENSG00000172493	P51825	AF4/FMR2 family member 1	clinvar
PABPC1	HGNC:8554	ENSG00000070756	P11940	Polyadenylate-binding protein 1	clinvar
SLC45A3	HGNC:8642	ENSG00000158715	Q96JT2	Solute carrier family 45 member 3	clinvar
POLQ	HGNC:9186	ENSG00000051341	O75417	DNA polymerase theta	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SSX1	Protein SSX1	Could act as a modulator of transcription.
TRRAP	Transformation/transcription domain-associated protein	Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation.
IKZF1	DNA-binding protein Ikaros	Transcription regulator of hematopoietic cell differentiation.
SUZ12	Polycomb protein SUZ12	Polycomb group (PcG) protein.
RABEP1	Rab GTPase-binding effector protein 1	Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A.
SETD2	Histone-lysine N-methyltransferase SETD2	Histone methyltransferase that specifically trimethylates ‘Lys-36’ of histone H3 (H3K36me3) using dimethylated ‘Lys-36’ (H3K36me2) as substrate.
CREB3L1	Cyclic AMP-responsive element-binding protein 3-like protein 1	Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with N-terminal DNA-binding and transcription activation domains…
CHD2	ATP-dependent chromatin remodeler CHD2	ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3.
CREBBP	CREB-binding protein	Acetylates histones, giving a specific tag for transcriptional activation.
ETNK1	Ethanolamine kinase 1	Highly specific for ethanolamine phosphorylation.
CTNNB1	Catenin beta-1	Key downstream component of the canonical Wnt signaling pathway.
ARHGEF10L	Rho guanine nucleotide exchange factor 10-like protein	Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.
DDX6	Probable ATP-dependent RNA helicase DDX6	Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions.
SND1	Staphylococcal nuclease domain-containing protein 1	Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs.
EPAS1	Endothelial PAS domain-containing protein 1	Transcription factor involved in the induction of oxygen regulated genes.
ERBB4	Receptor tyrosine-protein kinase erbB-4	Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell prolife…
FLT4	Vascular endothelial growth factor receptor 3	Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic developm…
IDH2	Isocitrate dehydrogenase [NADP], mitochondrial	Plays a role in intermediary metabolism and energy production.
KDR	Vascular endothelial growth factor receptor 2	Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD.
KRAS	GTPase KRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.
LATS1	Serine/threonine-protein kinase LATS1	Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.
PABPC1	Polyadenylate-binding protein 1	Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability.
SLC45A3	Solute carrier family 45 member 3	Proton-associated sucrose transporter.
POLQ	DNA polymerase theta	Low-fidelity DNA polymerase with a helicase activity that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery required to repair double-strand breaks in DNA during mitosis.

Protein-family classification

Druggable: 11 · Difficult: 6 · Unknown: 9 · Druggable fraction: 0.42

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	6	6.4×	0.002
Enzyme (other)	4	1.8×	0.501
Transporter	1	3.0×	0.538
Scaffold/PPI	2	1.3×	0.538
Transcription factor	4	1.3×	0.538
Other/Unknown	9	0.6×	0.991

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SSX1	Other/Unknown	no		KRAB, aKRAB, SSXRD_motif
TRRAP	Kinase	yes		PI3/4_kinase_cat_dom, PIK-rel_kinase_FAT, FATC_dom
IKZF1	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
SETBP1	Other/Unknown	no		AT_hook_DNA-bd_motif
SUZ12	Transcription factor	no		Polycomb_protein_VEFS-Box, Znf_SUZ12
RABEP1	Other/Unknown	no		Rabaptin, Rabaptin_Rab5-bd_dom, Rabaptin_CC
SETD2	Scaffold/PPI	no	2.1.1.359	WW_dom, SET_dom, Post-SET_dom
CREB3L1	Other/Unknown	no		bZIP, bZIP_sf
CHD2	Other/Unknown	no		SNF2_N, Chromo/chromo_shadow_dom, Helicase_C-like
CREBBP	Transcription factor	no	2.3.1.48	Znf_TAZ, Znf_ZZ, Bromodomain
ETNK1	Kinase	yes	2.7.1.82	Kinase-like_dom_sf
CTNNB1	Other/Unknown	no		Armadillo, ARM-like, Beta-catenin
ARHGEF10L	Scaffold/PPI	no		DH_dom, PH-like_dom_sf, WD40/YVTN_repeat-like_dom_sf
DDX6	Enzyme (other)	yes	3.6.4.13	RNA-helicase_DEAD-box_CS, Helicase_C-like, DEAD/DEAH_box_helicase_dom
SND1	Enzyme (other)	yes	3.1.31.1	Thermonucl_AS, Tudor, Staphylococal_nuclease_OB-fold
EPAS1	Transcription factor	no		PAS, Nuc_translocat, PAC
ERBB4	Kinase	yes	2.7.10.1	Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
FLT4	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS
IDH2	Enzyme (other)	yes	1.1.1.42	Isocitrate_DH_NADP, IsoCit/isopropylmalate_DH_CS, IsoPropMal-DH-like_dom
KDR	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS
KRAS	Enzyme (other)	yes	3.6.5.2	Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type
LATS1	Kinase	yes		Prot_kinase_dom, AGC-kinase_C, Ser/Thr_kinase_AS
AFF1	Other/Unknown	no		AF4/FMR2, AF4_int, AF4/FMR2_CHD
PABPC1	Other/Unknown	no		RRM_dom, PABP_HYD_C, RRM_euk-type
SLC45A3	Transporter	yes		MFS, MFS_trans_sf
POLQ	Other/Unknown	no		DNA-dir_DNA_pol_A_palm_dom, Helicase_C-like, DNA_polymerase_A

Expression context

Cohort genes with no expression data: 0.

26 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	26
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ventricular zone	4
buccal mucosa cell	3
sural nerve	3
calcaneal tendon	3
male germ line stem cell (sensu Vertebrata) in testis	2
ganglionic eminence	2
mucosa of paranasal sinus	2
colonic epithelium	2
endothelial cell	2
stromal cell of endometrium	2
tibia	2
adrenal tissue	2
lower lobe of lung	2
secondary oocyte	2
germinal epithelium of ovary	2
pylorus	2
oocyte	2
primordial germ cell in gonad	1
leukocyte	1
monocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SSX1	39	tissue_specific	marker	primordial germ cell in gonad, buccal mucosa cell, male germ line stem cell (sensu Vertebrata) in testis
TRRAP	241	ubiquitous	marker	ventricular zone, sural nerve, ganglionic eminence
IKZF1	225	broad	marker	leukocyte, monocyte, mononuclear cell
SETBP1	280	ubiquitous	marker	ventricular zone, buccal mucosa cell, caput epididymis
SUZ12	288	ubiquitous	marker	trabecular bone tissue, mucosa of paranasal sinus, buccal mucosa cell
RABEP1	278	ubiquitous	marker	skeletal muscle tissue of rectus abdominis, cortical plate, calcaneal tendon
SETD2	291	ubiquitous	marker	tendon of biceps brachii, endothelial cell, colonic epithelium
CREB3L1	231	ubiquitous	marker	nasal cavity epithelium, stromal cell of endometrium, ileal mucosa
CHD2	268	ubiquitous	marker	calcaneal tendon, sural nerve, colonic epithelium
CREBBP	297	ubiquitous	marker	sural nerve, tibia, amniotic fluid
ETNK1	281	ubiquitous	marker	jejunal mucosa, mucosa of transverse colon, adrenal tissue
CTNNB1	295	ubiquitous	marker	adrenal tissue, ventricular zone, periodontal ligament
ARHGEF10L	285	ubiquitous	marker	cerebellar hemisphere, cerebellar cortex, right hemisphere of cerebellum
DDX6	271	ubiquitous	marker	ganglionic eminence, calcaneal tendon, ventricular zone
SND1	292	ubiquitous	marker	body of pancreas, stromal cell of endometrium, islet of Langerhans
EPAS1	298	ubiquitous	marker	right lung, lower lobe of lung, adult organism
ERBB4	226	broad	marker	endothelial cell, secondary oocyte, cranial nerve II
FLT4	172	broad	marker	right lobe of thyroid gland, left lobe of thyroid gland, thyroid gland
IDH2	292	ubiquitous	marker	apex of heart, gastrocnemius, hindlimb stylopod muscle
KDR	267	broad	marker	germinal epithelium of ovary, lower lobe of lung, parietal pleura
KRAS	298	ubiquitous	marker	trigeminal ganglion, pylorus, nipple
LATS1	263	ubiquitous	marker	germinal epithelium of ovary, tibia, mucosa of paranasal sinus
AFF1	300	ubiquitous	marker	choroid plexus epithelium, renal medulla, skin of hip
PABPC1	288	ubiquitous	marker	parotid gland, pylorus, esophagus squamous epithelium
SLC45A3	203	broad	marker	prostate gland, C1 segment of cervical spinal cord, oocyte
POLQ	166	ubiquitous	marker	secondary oocyte, oocyte, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 9.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CTNNB1	15,668
KRAS	14,509
CREBBP	6,959
DDX6	5,922
PABPC1	5,523
KDR	4,960
IDH2	4,912
TRRAP	4,847
SETD2	4,668
EPAS1	4,652

Intra-cohort edges

A	B	Sources
CREB3L1	EPAS1	biogrid_interaction
CREB3L1	TRRAP	biogrid_interaction
CREBBP	CTNNB1	string_interaction
CTNNB1	KDR	string_interaction
DDX6	IKZF1	biogrid_interaction
DDX6	PABPC1	string_interaction
ETNK1	SETBP1	string_interaction
FLT4	KDR	intact, string_interaction
IDH2	SND1	biogrid_interaction

Structural data

PDB: 20 · AlphaFold-only: 6 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KRAS	P01116	511
CREBBP	Q92793	144
KDR	P35968	54
CTNNB1	P35222	50
SETD2	Q9BYW2	43
EPAS1	Q99814	43
POLQ	O75417	33
SUZ12	Q15022	30
PABPC1	P11940	30
ERBB4	Q15303	14
SND1	Q7KZF4	11
IDH2	P48735	11
IKZF1	Q13422	10
TRRAP	Q9Y4A5	9
DDX6	P26196	9
RABEP1	Q15276	6
LATS1	O95835	4
FLT4	P35916	2
SSX1	Q16384	1
AFF1	P51825	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ETNK1	Q9HBU6	84.76
SLC45A3	Q96JT2	77.39
ARHGEF10L	Q9HCE6	67.46
CHD2	O14647	60.81
CREB3L1	Q96BA8	55.66
SETBP1	Q9Y6X0	43.30

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 309. Enrichment computed across 26 evidence-associated genes (23 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 23 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production	2	198.6×	0.008	CREBBP, CTNNB1
Regulation of PD-L1(CD274) transcription	4	18.9×	0.008	SUZ12, CREBBP, CTNNB1, EPAS1
VEGF binds to VEGFR leading to receptor dimerization	2	110.3×	0.014	FLT4, KDR
Regulation of gene expression by Hypoxia-inducible Factor	2	82.8×	0.018	CREBBP, EPAS1
Cellular response to hypoxia	2	76.4×	0.018	CREBBP, EPAS1
High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells	3	21.0×	0.019	CTNNB1, FLT4, KDR
SHC1 events in ERBB4 signaling	2	62.1×	0.020	ERBB4, KRAS
GRB2 events in ERBB2 signaling	2	55.2×	0.022	ERBB4, KRAS
VEGFR2 mediated cell proliferation	2	49.6×	0.022	KDR, KRAS
NOTCH4 Intracellular Domain Regulates Transcription	2	49.6×	0.022	CREBBP, FLT4
CD209 (DC-SIGN) signaling	2	45.1×	0.023	CREBBP, KRAS
Formation of the beta-catenin:TCF transactivating complex	3	15.7×	0.023	TRRAP, CREBBP, CTNNB1
SHC1 events in ERBB2 signaling	2	41.4×	0.023	ERBB4, KRAS
Signaling by ERBB2 TMD/JMD mutants	2	41.4×	0.023	ERBB4, KRAS
Activation of HOX genes during differentiation	2	38.2×	0.024	SUZ12, CREBBP
NOTCH3 Intracellular Domain Regulates Transcription	2	38.2×	0.024	IKZF1, CREBBP
Signaling by ERBB2 KD Mutants	2	36.8×	0.024	ERBB4, KRAS
Formation of paraxial mesoderm	2	35.5×	0.024	CREBBP, CTNNB1
Chromatin organization	3	10.6×	0.043	SUZ12, SETD2, CREBBP
Chromatin modifying enzymes	3	9.4×	0.058	SUZ12, SETD2, CREBBP
Signaling by RAS GAP mutants	1	165.5×	0.081	KRAS
Signaling by RAS GTPase mutants	1	165.5×	0.081	KRAS
Transcriptional activation of mitochondrial biogenesis	2	17.7×	0.081	CREBBP, IDH2
SUMO E3 ligases SUMOylate target proteins	2	15.5×	0.086	SUZ12, CREBBP
Ca2+ pathway	2	15.5×	0.086	CTNNB1, KRAS
Transcriptional and post-translational regulation of MITF-M expression and activity	2	15.5×	0.086	CREBBP, CTNNB1
Neuropilin interactions with VEGF and VEGFR	1	124.1×	0.089	KDR
Signaling by BRAF and RAF1 fusions	2	14.8×	0.089	SND1, KRAS
Activation of RAS in B cells	1	99.3×	0.091	KRAS
Signaling by membrane-tethered fusions of PDGFRA or PDGFRB	1	99.3×	0.091	KDR

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 26 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
nucleosome organization	2	216.1×	0.007	SETD2, CHD2
peptidyl-tyrosine phosphorylation	3	48.6×	0.007	ERBB4, FLT4, KDR
lymph vessel development	2	144.0×	0.011	FLT4, KDR
epithelial cell maturation	2	117.8×	0.011	EPAS1, KDR
myoblast proliferation	2	108.0×	0.011	CTNNB1, KRAS
positive regulation of protein phosphorylation	3	31.9×	0.011	ERBB4, FLT4, KDR
mammary gland epithelial cell differentiation	2	92.6×	0.013	ERBB4, LATS1
vascular endothelial growth factor signaling pathway	2	81.0×	0.013	FLT4, KDR
positive regulation of MAPK cascade	4	12.4×	0.013	CTNNB1, ERBB4, FLT4, KDR
epithelial tube branching involved in lung morphogenesis	2	64.8×	0.017	CTNNB1, KRAS
surfactant homeostasis	2	61.7×	0.017	EPAS1, KDR
cell surface receptor protein tyrosine kinase signaling pathway	3	20.1×	0.017	ERBB4, FLT4, KDR
regulatory ncRNA-mediated gene silencing	2	51.9×	0.022	SND1, PABPC1
protein autophosphorylation	3	16.8×	0.023	ERBB4, FLT4, KDR
positive regulation of mesenchymal cell proliferation	2	46.3×	0.024	CTNNB1, KDR
positive regulation of cell population proliferation	5	6.5×	0.024	SUZ12, CTNNB1, ERBB4, FLT4, KDR
cellular response to vascular endothelial growth factor stimulus	2	43.2×	0.025	FLT4, KDR
branching involved in blood vessel morphogenesis	2	40.5×	0.025	CTNNB1, KDR
positive regulation of stem cell proliferation	2	40.5×	0.025	CTNNB1, KDR
glial cell fate determination	1	648.1×	0.026	CTNNB1
canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	1	648.1×	0.026	CTNNB1
response to mineralocorticoid	1	648.1×	0.026	KRAS
cranial ganglion development	1	648.1×	0.026	CTNNB1
positive regulation of nitric oxide-cGMP mediated signal transduction	1	648.1×	0.026	KDR
vascular endothelial growth factor receptor signaling pathway	2	37.0×	0.026	FLT4, KDR
osteoblast differentiation	3	14.0×	0.026	CREB3L1, CTNNB1, SND1
neural plate development	1	324.1×	0.026	CTNNB1
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	1	324.1×	0.026	CTNNB1
glyoxylate cycle	1	324.1×	0.026	IDH2
viral RNA genome packaging	1	324.1×	0.026	DDX6

Therapeutics

Drugs indicated for this disease

0 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Cisplatin	Phase 3 (in late-stage trials)
Etoposide	Phase 3 (in late-stage trials)
Ifosfamide	Phase 3 (in late-stage trials)
Oxaliplatin	Phase 3 (in late-stage trials)
Paclitaxel	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ribociclib.

Drug target analysis

Approved (phase 4): 13 · Phase ≥3: 13 · Phased (≥1): 16 · Undrugged: 10

Druggability breadth: 19 of 26 evidence-associated genes (73%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
IKZF1	POMALIDOMIDE
SUZ12	TAZEMETOSTAT
CREBBP	COLCHICINE
CTNNB1	DITHIAZANINE IODIDE
EPAS1	BELZUTIFAN
ERBB4	MOBOCERTINIB
FLT4	FEDRATINIB
IDH2	ENASIDENIB
KDR	VANDETANIB
KRAS	VEMURAFENIB
LATS1	IBRUTINIB
PABPC1	OXCARBAZEPINE
POLQ	NOVOBIOCIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KDR	172	4
FLT4	72	4
ERBB4	47	4
LATS1	32	4
CREBBP	13	4
KRAS	11	4
EPAS1	7	4
IDH2	7	4
PABPC1	6	4
CTNNB1	4	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
POMALIDOMIDE	4	IKZF1
LENALIDOMIDE	4	IKZF1
TAZEMETOSTAT	4	SUZ12
COLCHICINE	4	CREBBP
ALTRETAMINE	4	CREBBP
DITHIAZANINE IODIDE	4	CTNNB1
BELZUTIFAN	4	EPAS1
EMETINE	4	EPAS1
DOXORUBICIN	4	EPAS1
TOPOTECAN	4	EPAS1
MOBOCERTINIB	4	ERBB4
AFATINIB	4	ERBB4
FEDRATINIB	4	ERBB4, FLT4, KDR
NERATINIB	4	ERBB4, KDR
IBRUTINIB	4	ERBB4, KDR, LATS1
AFATINIB DIMALEATE	4	ERBB4
DACOMITINIB	4	ERBB4
DACOMITINIB ANHYDROUS	4	ERBB4
VANDETANIB	4	ERBB4, FLT4, KDR
BOSUTINIB	4	ERBB4
BRIGATINIB	4	ERBB4, FLT4, KDR
ACALABRUTINIB	4	ERBB4, KDR
ZANUBRUTINIB	4	ERBB4
TIRABRUTINIB	4	ERBB4
RITLECITINIB	4	ERBB4
DASATINIB	4	ERBB4, KDR
ERLOTINIB	4	ERBB4, FLT4, KDR
LAPATINIB	4	ERBB4
MIDOSTAURIN	4	ERBB4, FLT4, KDR, LATS1
GEFITINIB	4	ERBB4, FLT4, KDR

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 10.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
KDR	2,687	Binding:2594, Functional:64, ADMET:27, Toxicity:2
KRAS	861	Binding:829, Functional:32
FLT4	717	Binding:683, Functional:32, ADMET:2
CREBBP	687	Binding:644, Functional:43
ERBB4	591	Binding:579, ADMET:8, Functional:4
CTNNB1	361	Binding:358, Functional:3
EPAS1	241	Binding:233, Functional:8
LATS1	207	Binding:207
IKZF1	106	Binding:105, Functional:1
IDH2	84	Binding:84
SETD2	64	Binding:64
SUZ12	51	Binding:51
POLQ	46	Binding:46
PABPC1	12	Binding:8, Functional:4
AFF1	8	Binding:8
SND1	7	Binding:7
DDX6	4	Binding:4
TRRAP	1	Binding:1
SLC45A3	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
SETD2	2.1.1.359	[histone H3]-lysine36 N-trimethyltransferase
CREBBP	2.3.1.48	histone acetyltransferase
ETNK1	2.7.1.82	ethanolamine kinase
DDX6	3.6.4.13	RNA helicase
SND1	3.1.31.1	micrococcal nuclease
ERBB4	2.7.10.1	receptor protein-tyrosine kinase
FLT4	2.7.10.1	receptor protein-tyrosine kinase
IDH2	1.1.1.42	isocitrate dehydrogenase (NADP+)
KDR	2.7.10.1	receptor protein-tyrosine kinase
KRAS	3.6.5.2	small monomeric GTPase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
IKZF1	106
CREBBP	687
CTNNB1	361
EPAS1	241
ERBB4	591
FLT4	717
KDR	2,687
KRAS	861
LATS1	207

Pharmacogenomics

Cohort genes with a PharmGKB record: 26; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
POMALIDOMIDE	4	IKZF1
LENALIDOMIDE	4	IKZF1
TAZEMETOSTAT	4	SUZ12
COLCHICINE	4	CREBBP
ALTRETAMINE	4	CREBBP
DITHIAZANINE IODIDE	4	CTNNB1
BELZUTIFAN	4	EPAS1
EMETINE	4	EPAS1
DOXORUBICIN	4	EPAS1
TOPOTECAN	4	EPAS1
MOBOCERTINIB	4	ERBB4
AFATINIB	4	ERBB4
FEDRATINIB	4	ERBB4, FLT4, KDR
NERATINIB	4	ERBB4, KDR
IBRUTINIB	4	ERBB4, KDR, LATS1
AFATINIB DIMALEATE	4	ERBB4
DACOMITINIB	4	ERBB4
DACOMITINIB ANHYDROUS	4	ERBB4
VANDETANIB	4	ERBB4, FLT4, KDR
BOSUTINIB	4	ERBB4
BRIGATINIB	4	ERBB4, FLT4, KDR
ACALABRUTINIB	4	ERBB4, KDR
ZANUBRUTINIB	4	ERBB4
TIRABRUTINIB	4	ERBB4
RITLECITINIB	4	ERBB4
DASATINIB	4	ERBB4, KDR
ERLOTINIB	4	ERBB4, FLT4, KDR
LAPATINIB	4	ERBB4
MIDOSTAURIN	4	ERBB4, FLT4, KDR, LATS1
GEFITINIB	4	ERBB4, FLT4, KDR

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	13	IKZF1, SUZ12, CREBBP, CTNNB1, EPAS1, ERBB4, FLT4, IDH2, KDR, KRAS (+3 more)
B	Phased (≥1) drug, not yet approved	3	SETD2, DDX6, AFF1
C	Druggable family + PDB, no drug	2	TRRAP, SND1
D	Druggable family + AlphaFold only, no drug	2	ETNK1, SLC45A3
E	Difficult family or no structure, no drug	6	SSX1, SETBP1, RABEP1, CREB3L1, CHD2, ARHGEF10L

Undrugged target profiles

10 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SSX1	0	—
TRRAP	1	—
SETBP1	0	—
RABEP1	0	—
CREB3L1	0	—
CHD2	0	—
ETNK1	0	—
ARHGEF10L	0	—
SND1	7	—
SLC45A3	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 18.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	7
Not specified	7
PHASE3	2
PHASE2/PHASE3	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02375204	PHASE3	ACTIVE_NOT_RECRUITING	Standard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients with Relapsed or Refractory Germ Cell Tumors
NCT00003643	PHASE2/PHASE3	UNKNOWN	Combination Chemotherapy in Treating Men With Germ Cell Cancer
NCT00104676	PHASE3	COMPLETED	Combination Chemotherapy in Treating Patients With Stage II or Stage III Germ Cell Tumors
NCT00002931	PHASE2	COMPLETED	Combination Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Patients With Relapsed Germ Cell Cancer
NCT00301782	PHASE2	COMPLETED	Combination Chemotherapy in Treating Male Patients With Germ Cell Tumors
NCT00423852	PHASE1/PHASE2	COMPLETED	Paclitaxel, Ifosfamide, and Carboplatin Followed By Autologous Stem Cell Transplant in Treating Patients With Germ Cell Tumors That Did Not Respond to Cisplatin
NCT00432094	PHASE2	COMPLETED	Autologous Peripheral Blood Stem Cell Transplant for Germ Cell Tumors
NCT00453232	PHASE2	COMPLETED	Combination Chemotherapy and Pegfilgrastim in Treating Men With Metastatic Germ Cell Tumors
NCT00453310	PHASE2	COMPLETED	Sunitinib in Treating Patients With Metastatic Germ Cell Tumors That Have Relapsed or Not Responded to Treatment
NCT00470366	PHASE2	COMPLETED	Combination Chemotherapy and Pegfilgrastim in Treating Patients With Previously Untreated Germ Cell Tumors
NCT02300987	PHASE2	COMPLETED	A Randomized, Blinded, Placebo-controlled, Phase II Trial of LEE011 in Patients With Relapsed, Refractory, Incurable Teratoma With Recent Progression
NCT05564026	Not specified	RECRUITING	Molecular Epidemiology of Pediatric Germ Cell Tumors
NCT06421805	Not specified	RECRUITING	Establishing Prospective Mediastinal Tumor Database of PUMCH
NCT07199699	Not specified	NOT_YET_RECRUITING	Subxiphoid VATS for Giant Mediastinal Teratoma
NCT00687778	Not specified	UNKNOWN	11C-Acetate PET/CT Non-FDG-Avid Tumors
NCT00836121	Not specified	COMPLETED	Anterior Mediastinum Teratoma: A Case Report
NCT05179850	Not specified	UNKNOWN	Computer Aided Diagnostic Tool on Computed Tomography Images for Diagnosis of Retroperitoneal Tumor in Children
NCT05187923	Not specified	UNKNOWN	Computer Aided Tool for Diagnosis of Neck Masses in Children

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CISPLATIN	4	6
BLEOMYCIN SULFATE	4	4
2-MERCAPTOETHANESULFONIC ACID	4	2
ETOPOSIDE PHOSPHATE	4	2
IFOSFAMIDE	4	2
ETOPOSIDE	4	1
FILGRASTIM	4	1
OXALIPLATIN	4	1
PACLITAXEL	4	1
RIBOCICLIB	4	1
SUNITINIB MALATE	4	1
THIOTEPA	4	1
CHEMBL48	0	1
CHEMBL3109278	0	1