Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2961
Gene name	General transcription factor IIE subunit 2
Gene symbol	GTF2E2
Synonyms (NCBI Gene)	FETF2E2TFIIE-BTTD6
Chromosome	8
Chromosome location	8p12
Summary	The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alph

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs875989846	C>G	Pathogenic	Coding sequence variant, missense variant
rs875989847	C>A	Pathogenic	Coding sequence variant, missense variant

121

Show/Hide all (121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039017	hsa-miR-766-3p	CLASH	23622248
MIRT544520	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT544519	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT544518	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT544516	hsa-miR-6500-3p	PAR-CLIP	21572407
MIRT544515	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT544514	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT544513	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT544512	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT544511	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT544510	hsa-miR-2052	PAR-CLIP	21572407
MIRT544509	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT544508	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT544507	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT544506	hsa-miR-7703	PAR-CLIP	21572407
MIRT544505	hsa-miR-4325	PAR-CLIP	21572407
MIRT544504	hsa-miR-8081	PAR-CLIP	21572407
MIRT544503	hsa-miR-507	PAR-CLIP	21572407
MIRT544502	hsa-miR-557	PAR-CLIP	21572407
MIRT544520	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT544519	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT544518	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT544517	hsa-miR-4724-5p	PAR-CLIP	21572407
MIRT544516	hsa-miR-6500-3p	PAR-CLIP	21572407
MIRT544515	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT544514	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT544513	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT544512	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT544511	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT544510	hsa-miR-2052	PAR-CLIP	21572407
MIRT544509	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT544508	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT544507	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT544506	hsa-miR-7703	PAR-CLIP	21572407
MIRT544505	hsa-miR-4325	PAR-CLIP	21572407
MIRT544504	hsa-miR-8081	PAR-CLIP	21572407
MIRT544503	hsa-miR-507	PAR-CLIP	21572407
MIRT544502	hsa-miR-557	PAR-CLIP	21572407
MIRT544520	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT544519	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT544518	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT544516	hsa-miR-6500-3p	PAR-CLIP	21572407
MIRT544515	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT544514	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT544513	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT544512	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT544511	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT544510	hsa-miR-2052	PAR-CLIP	21572407
MIRT544509	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT544508	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT544507	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT544506	hsa-miR-7703	PAR-CLIP	21572407
MIRT544505	hsa-miR-4325	PAR-CLIP	21572407
MIRT544504	hsa-miR-8081	PAR-CLIP	21572407
MIRT544503	hsa-miR-507	PAR-CLIP	21572407
MIRT544502	hsa-miR-557	PAR-CLIP	21572407
MIRT544520	hsa-miR-548av-3p	PAR-CLIP	21572407
MIRT544519	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT544518	hsa-miR-100-3p	PAR-CLIP	21572407
MIRT544517	hsa-miR-4724-5p	PAR-CLIP	21572407
MIRT544516	hsa-miR-6500-3p	PAR-CLIP	21572407
MIRT544515	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT544514	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT544513	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT544512	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT544511	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT544510	hsa-miR-2052	PAR-CLIP	21572407
MIRT544509	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT544508	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT544507	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT544506	hsa-miR-7703	PAR-CLIP	21572407
MIRT544505	hsa-miR-4325	PAR-CLIP	21572407
MIRT544504	hsa-miR-8081	PAR-CLIP	21572407
MIRT544503	hsa-miR-507	PAR-CLIP	21572407
MIRT544502	hsa-miR-557	PAR-CLIP	21572407
MIRT1036832	hsa-miR-1323	CLIP-seq
MIRT1036833	hsa-miR-3664-5p	CLIP-seq
MIRT1036834	hsa-miR-4685-5p	CLIP-seq
MIRT1036835	hsa-miR-548a-3p	CLIP-seq
MIRT1036836	hsa-miR-548e	CLIP-seq
MIRT1036837	hsa-miR-548f	CLIP-seq
MIRT1036838	hsa-miR-548g	CLIP-seq
MIRT1036839	hsa-miR-548o	CLIP-seq
MIRT1036840	hsa-miR-618	CLIP-seq
MIRT2007383	hsa-miR-150	CLIP-seq
MIRT2007384	hsa-miR-1915	CLIP-seq
MIRT2007385	hsa-miR-194	CLIP-seq
MIRT2007386	hsa-miR-4270	CLIP-seq
MIRT2007387	hsa-miR-4441	CLIP-seq
MIRT2007388	hsa-miR-4476	CLIP-seq
MIRT2007389	hsa-miR-4713-5p	CLIP-seq
MIRT2007390	hsa-miR-4726-3p	CLIP-seq
MIRT2007391	hsa-miR-532-3p	CLIP-seq
MIRT2007392	hsa-miR-7	CLIP-seq
MIRT2007393	hsa-miR-802	CLIP-seq
MIRT2007383	hsa-miR-150	CLIP-seq
MIRT2007384	hsa-miR-1915	CLIP-seq
MIRT2007385	hsa-miR-194	CLIP-seq
MIRT2240075	hsa-miR-23a	CLIP-seq
MIRT2240076	hsa-miR-23b	CLIP-seq
MIRT2240077	hsa-miR-23c	CLIP-seq
MIRT2007386	hsa-miR-4270	CLIP-seq
MIRT2007387	hsa-miR-4441	CLIP-seq
MIRT2007388	hsa-miR-4476	CLIP-seq
MIRT2240078	hsa-miR-451b	CLIP-seq
MIRT2240079	hsa-miR-4711-5p	CLIP-seq
MIRT2007389	hsa-miR-4713-5p	CLIP-seq
MIRT2007390	hsa-miR-4726-3p	CLIP-seq
MIRT2240080	hsa-miR-499-3p	CLIP-seq
MIRT2240081	hsa-miR-499a-3p	CLIP-seq
MIRT2007391	hsa-miR-532-3p	CLIP-seq
MIRT2240082	hsa-miR-545	CLIP-seq
MIRT2007392	hsa-miR-7	CLIP-seq
MIRT2007393	hsa-miR-802	CLIP-seq
MIRT2007384	hsa-miR-1915	CLIP-seq
MIRT2007385	hsa-miR-194	CLIP-seq
MIRT2007386	hsa-miR-4270	CLIP-seq
MIRT2007387	hsa-miR-4441	CLIP-seq
MIRT2007388	hsa-miR-4476	CLIP-seq
MIRT2007390	hsa-miR-4726-3p	CLIP-seq
MIRT2007393	hsa-miR-802	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001097	Function	TFIIH-class transcription factor complex binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	7926747, 8999876, 9271120, 16547462, 21988832, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IDA	27193682
GO:0005673	Component	Transcription factor TFIIE complex	IBA
GO:0005673	Component	Transcription factor TFIIE complex	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	27193682
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IBA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IEA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	TAS	1956398
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	27193682

MIM	HGNC	e!Ensembl
189964	4651	ENSG00000197265

P29084

Protein name

Transcription initiation factor IIE subunit beta (TFIIE-beta) (General transcription factor IIE subunit 2)

Protein function

Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase. {ECO:0000269|PubMed:

PDB

1D8J , 1D8K , 5GPY , 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5IYA , 5IYB , 5IYC , 5IYD , 6O9L , 7EG9 , 7EGA , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 7NVS , 7NVT , 7NVU , 7NVY , 7NVZ , 7NW0 , 8BVW , 8BYQ , 8GXQ , 8GXS , 8S51 , 8S52 , 8S55 , 8S5N , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02186	TFIIE_beta	74 → 145	TFIIE beta subunit core domain	Domain
PF18121	TFA2_Winged_2	146 → 204	TFA2 Winged helix domain 2	Domain

Sequence

MDPSLLRERELFKKRALSTPVVEKRSASSESSSSSSKKKKTKVEHGGSSGSKQNSDHSNG
SFNLKALSGSSGYKFGVLAKIVNYMKTRHQRGDTHPLTLDEILDETQHLDIGLKQKQWLM
TEALVNNPKIEVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLEDIEEALPNSQK
AVKALGDQILFVNRPDKKKILFFNDKSCQFSVDEEFQKLWRSVTVDSMDEEKIEEYLKRQ
GISSMQESGPKKVAPIQRRKKPASQKKRRFKTHNEHLAGVLKDYSDITSSK

Sequence length

291

Interactions

View interactions

	KEGG		Reactome
	Basal transcription factors Viral carcinogenesis		RNA Polymerase II Pre-transcription Events RNA polymerase II transcribes snRNA genes RNA Polymerase II Promoter Escape RNA Polymerase II Transcription Pre-Initiation And Promoter Opening RNA Polymerase II Transcription Initiation RNA Polymerase II Transcription Initiation And Promoter Clearance

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Trichothiodystrophy 6, nonphotosensitive	Pathogenic	rs875989846, rs875989847	RCV000211060 RCV000211077	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GTF2E2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY SYNDROMES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35954157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exfoliative erythroderma	Congenital exfoliative erythroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	28973399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of mandible relative to maxilla	Hypoplasia of mandible relative to maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired social reciprocity	Impaired social reciprocity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia/paraparesis	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy	Trichothiodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE	Trichothiodystrophy	UNIPROT_DG	26996949		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE	Trichothiodystrophy	GENOMICS_ENGLAND_DG	26996949		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE	Trichothiodystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE	Trichothiodystrophy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	26996949, 28973399		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	ORPHANET_DG	26996949		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	26996949, 28973399, 30580289	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GTF2E2 (general transcription factor IIE subunit 2)