TTD3
MCID: TRC100
MIFTS: 41

Trichothiodystrophy 3, Photosensitive (TTD3)

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases

Aliases & Classifications for Trichothiodystrophy 3, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 3, Photosensitive:

Name: Trichothiodystrophy 3, Photosensitive 57 72 29 6
Trichothiodystrophy, Complementation Group a 57 72 6
Ttd3 57 12 72
Photosensitive Trichothiodystrophy 3 12 15
Ttda 57 72
Trichothiodystrophy, Complementation Group a; Ttda 57
Trichothiodystrophy Complementation Group a 12

Characteristics:

HPO:

31
trichothiodystrophy 3, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 3, Photosensitive

OMIM® : 57 Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). For a discussion of genetic heterogeneity of TTD, see 601675. (616395) (Updated 05-Apr-2021)

MalaCards based summary : Trichothiodystrophy 3, Photosensitive, also known as trichothiodystrophy, complementation group a, is related to trichothiodystrophy and cockayne syndrome. An important gene associated with Trichothiodystrophy 3, Photosensitive is GTF2H5 (General Transcription Factor IIH Subunit 5), and among its related pathways/superpathways are Gene Expression and Tat-mediated elongation of the HIV-1 transcript. Related phenotypes are intellectual disability and cataract

Disease Ontology : 12 A photosensitive trichothiodystrophy that has material basis in homozygous or compound heterozygous mutation in GTF2H5 on chromosome 6q25.3.

UniProtKB/Swiss-Prot : 72 Trichothiodystrophy 3, photosensitive: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder.

Related Diseases for Trichothiodystrophy 3, Photosensitive

Diseases in the Trichothiodystrophy 1, Photosensitive family:

Trichothiodystrophy 2, Photosensitive Trichothiodystrophy 3, Photosensitive

Diseases related to Trichothiodystrophy 3, Photosensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 29.2 MPLKIP GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3
2 cockayne syndrome 28.4 UVSSA GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
3 xeroderma pigmentosum, variant type 26.8 UVSSA TCEA2 POLH MPLKIP GTF2H5 GTF2H4
4 trichothiodystrophy 4, nonphotosensitive 10.2 MPLKIP GTF2H5
5 squamous cell carcinoma 10.1
6 cerebrooculofacioskeletal syndrome 1 10.1 ERCC6 ERCC2
7 phlebotomus fever 10.1 GTF2H4 GTF2H2
8 microphthalmia, syndromic 10 10.1
9 xeroderma pigmentosum-cockayne syndrome complex 10.1 ERCC3 ERCC2
10 xeroderma pigmentosum, complementation group a 10.0 ERCC6 ERCC2 DDB2
11 cerebro-oculo-facio-skeletal syndrome 9.9 ERCC6 ERCC3 ERCC2
12 ifap syndrome 1, with or without bresheck syndrome 9.9 MPLKIP GTF2H5 ERCC3
13 pachyonychia congenita 3 9.9
14 helix syndrome 9.9
15 glioma 9.9
16 glial tumor 9.9
17 trichothiodystrophy 2, photosensitive 9.8 SLC6A17 MPLKIP GTF2H5 ERCC3
18 cockayne syndrome a 9.8 ERCC6 ERCC3
19 xeroderma pigmentosum, complementation group f 9.7 ERCC6 ERCC3 ERCC2 DDB2
20 ichthyosis 9.7 MPLKIP GTF2H5 ERCC3 ERCC2
21 trichothiodystrophy 1, photosensitive 9.7 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
22 autosomal recessive disease 9.7 MPLKIP GTF2H5 ERCC6 ERCC3 ERCC2
23 xeroderma pigmentosum, complementation group c 9.6 ERCC6 ERCC3 DDB2 CETN2
24 xfe progeroid syndrome 9.6 UVSSA GTF2H5 ERCC6 ERCC3
25 robinow syndrome, autosomal recessive 1 9.5 UVSSA ERCC6 ERCC3 DDB2
26 fanconi anemia, complementation group a 9.4 POLH ERCC6 ERCC2 DDB2
27 skin carcinoma 9.2 POLH ERCC6 ERCC3 ERCC2 DDB2
28 xeroderma pigmentosum group e 9.1 UVSSA GTF2H5 ERCC6 ERCC3 ERCC2 DDB2
29 xeroderma pigmentosum, complementation group d 9.0 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
30 uv-sensitive syndrome 8.6 UVSSA TCEA2 MPLKIP GTF2H5 ERCC6 ERCC3
31 xeroderma pigmentosum, complementation group b 8.6 UVSSA MPLKIP GTF2H5 GTF2H4 GTF2H2 ERCC6
32 xeroderma pigmentosum, complementation group g 8.3 UVSSA POLH GTF2H5 GTF2H4 GTF2H2 ERCC6

Graphical network of the top 20 diseases related to Trichothiodystrophy 3, Photosensitive:



Diseases related to Trichothiodystrophy 3, Photosensitive

Symptoms & Phenotypes for Trichothiodystrophy 3, Photosensitive

Human phenotypes related to Trichothiodystrophy 3, Photosensitive:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 cataract 31 HP:0000518
3 short stature 31 HP:0004322
4 decreased fertility 31 HP:0000144
5 asthma 31 HP:0002099
6 erythroderma 31 HP:0001019
7 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
8 brittle hair 31 HP:0002299
9 joint contracture of the hand 31 HP:0009473
10 tiger tail banding 31 HP:0045055

Clinical features from OMIM®:

616395 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Trichothiodystrophy 3, Photosensitive according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 DDB2 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 DDB2 ERCC6
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 CETN2 DDB2 ERCC2 ERCC3 ERCC6 GTF2H4

MGI Mouse Phenotypes related to Trichothiodystrophy 3, Photosensitive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.5 DDB2 ELOA ERCC2 ERCC3 ERCC6 MPLKIP
2 neoplasm MP:0002006 9.02 DDB2 ERCC2 ERCC3 ERCC6 POLH

Drugs & Therapeutics for Trichothiodystrophy 3, Photosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 3, Photosensitive

Genetic Tests for Trichothiodystrophy 3, Photosensitive

Genetic tests related to Trichothiodystrophy 3, Photosensitive:

# Genetic test Affiliating Genes
1 Trichothiodystrophy 3, Photosensitive 29 GTF2H5

Anatomical Context for Trichothiodystrophy 3, Photosensitive

Publications for Trichothiodystrophy 3, Photosensitive

Articles related to Trichothiodystrophy 3, Photosensitive:

(show all 18)
# Title Authors PMID Year
1
A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report. 57 6
30359777 2019
2
Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. 6 57
24986372 2014
3
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. 57 6
15220921 2004
4
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. 57
18603627 2008
5
Rapid switching of TFIIH between RNA polymerase I and II transcription and DNA repair in vivo. 57
12453423 2002
6
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 6
11709541 2001
7
A temperature-sensitive disorder in basal transcription and DNA repair in humans. 6
11242112 2001
8
When more is better. 57
11062454 2000
9
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. 57
11062469 2000
10
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. 6
9758621 1998
11
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 6
9195225 1997
12
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 6
8571952 1996
13
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 6
7849702 1994
14
Nomenclature of human DNA repair genes. 57
7517009 1994
15
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 6
7920640 1994
16
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. 57
8213812 1993
17
Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). 57
7082576 1982
18
Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma. 61
28833524 2018

Variations for Trichothiodystrophy 3, Photosensitive

ClinVar genetic disease variations for Trichothiodystrophy 3, Photosensitive:

6 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GTF2H5 NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter) SNV Pathogenic 975158 GRCh37: 6:158613136-158613136
GRCh38: 6:158192104-158192104
2 GTF2H5 NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter) SNV Pathogenic 975159 GRCh37: 6:158613022-158613022
GRCh38: 6:158191990-158191990
3 GTF2H5 NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys) SNV Pathogenic 975160 GRCh37: 6:158591564-158591564
GRCh38: 6:158170532-158170532
4 GTF2H5 NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter) SNV Pathogenic 2103 rs121434364 GRCh37: 6:158613139-158613139
GRCh38: 6:158192107-158192107
5 GTF2H5 NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro) SNV Pathogenic 2104 rs121434365 GRCh37: 6:158613035-158613035
GRCh38: 6:158192003-158192003
6 ERCC2 NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) SNV Pathogenic 16781 rs121913018 GRCh37: 19:45855484-45855484
GRCh38: 19:45352226-45352226
7 ERCC2 NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) SNV Pathogenic 16785 rs121913021 GRCh37: 19:45855838-45855838
GRCh38: 19:45352580-45352580
8 ERCC2 NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) SNV Pathogenic 16786 rs121913022 GRCh37: 19:45855520-45855520
GRCh38: 19:45352262-45352262
9 MPLKIP NM_138701.4(MPLKIP):c.505dup (p.Thr169fs) Duplication Pathogenic 218158 rs768342562 GRCh37: 7:40172692-40172693
GRCh38: 7:40133093-40133094
10 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic 16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
11 ERCC2 NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) SNV Pathogenic 329508 rs376556895 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801
12 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) SNV Pathogenic 16792 rs121913026 GRCh37: 19:45855493-45855493
GRCh38: 19:45352235-45352235
13 ERCC2 NM_000400.3(ERCC2):c.335G>A (p.Arg112His) SNV Pathogenic 16784 rs121913020 GRCh37: 19:45871913-45871913
GRCh38: 19:45368655-45368655
14 ERCC2 NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) SNV Pathogenic 16779 rs121913016 GRCh37: 19:45860626-45860626
GRCh38: 19:45357368-45357368
15 ERCC2 NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) SNV Pathogenic 134102 rs144564120 GRCh37: 19:45855507-45855507
GRCh38: 19:45352249-45352249
16 ERCC2 NM_000400.4(ERCC2):c.2190+1del Deletion Pathogenic 1028730 GRCh37: 19:45855466-45855466
GRCh38: 19:45352208-45352208
17 ERCC2 NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) SNV Pathogenic 16793 rs41556519 GRCh37: 19:45855610-45855610
GRCh38: 19:45352352-45352352
18 ERCC2 NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) SNV Likely pathogenic 1028731 GRCh37: 19:45871914-45871914
GRCh38: 19:45368656-45368656
19 ERCC2 NM_000400.3(ERCC2):c.594+2_594+5del Deletion Likely pathogenic 402226 rs762309206 GRCh37: 19:45868091-45868094
GRCh38: 19:45364833-45364836
20 GTF2H5 NM_207118.2(GTF2H5):c.36-2A>G SNV Likely pathogenic 587425 rs765378190 GRCh37: 6:158613007-158613007
GRCh38: 6:158191975-158191975
21 ERCC2 NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) SNV Uncertain significance 894684 GRCh37: 19:45860770-45860770
GRCh38: 19:45357512-45357512
22 ERCC2 NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) Insertion Uncertain significance 998350 GRCh37: 19:45860581-45860582
GRCh38: 19:45357323-45357324
23 ERCC2 NM_000400.4(ERCC2):c.2191-4G>A SNV Uncertain significance 785627 rs201840907 GRCh37: 19:45854983-45854983
GRCh38: 19:45351725-45351725
24 ERCC2 NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) SNV Uncertain significance 998351 GRCh37: 19:45868137-45868137
GRCh38: 19:45364879-45364879
25 ERCC2 NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) SNV Uncertain significance 134116 rs137910235 GRCh37: 19:45867721-45867721
GRCh38: 19:45364463-45364463
26 ERCC2 NM_000400.4(ERCC2):c.1119-85G>A SNV Uncertain significance 997453 GRCh37: 19:45864985-45864985
GRCh38: 19:45361727-45361727
27 ERCC2 NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) SNV Uncertain significance 893461 GRCh37: 19:45856074-45856074
GRCh38: 19:45352816-45352816
28 ERCC2 NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) SNV Uncertain significance 997520 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801
29 ERCC2 NM_000400.4(ERCC2):c.1832-3C>G SNV Uncertain significance 997550 GRCh37: 19:45856077-45856077
GRCh38: 19:45352819-45352819
30 ERCC2 NM_000400.4(ERCC2):c.1238-1192G>A SNV Uncertain significance 997570 GRCh37: 19:45862149-45862149
GRCh38: 19:45358891-45358891
31 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) SNV Uncertain significance 134099 rs200665173 GRCh37: 19:45856019-45856019
GRCh38: 19:45352761-45352761
32 ERCC2 NM_000400.4(ERCC2):c.595-10G>A SNV Uncertain significance 1029821 GRCh37: 19:45867815-45867815
GRCh38: 19:45364557-45364557
33 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) SNV Uncertain significance 134099 rs200665173 GRCh37: 19:45856019-45856019
GRCh38: 19:45352761-45352761
34 ERCC2 NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) SNV Uncertain significance 134098 rs147972150 GRCh37: 19:45873449-45873449
GRCh38: 19:45370191-45370191

UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 3, Photosensitive:

72
# Symbol AA change Variation ID SNP ID
1 GTF2H5 p.Leu21Pro VAR_022647 rs121434365

Expression for Trichothiodystrophy 3, Photosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 3, Photosensitive.

Pathways for Trichothiodystrophy 3, Photosensitive

Pathways related to Trichothiodystrophy 3, Photosensitive according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
2
Show member pathways
13.05 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 ELOA
3
Show member pathways
12.86 UVSSA POLH GTF2H5 GTF2H4 GTF2H2 ERCC6
4
Show member pathways
12.79 TCEA2 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
5
Show member pathways
12.73 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 ELOA
6
Show member pathways
12.48 POLH GTF2H2 ERCC6 ERCC3 ERCC2
7
Show member pathways
12.34 UVSSA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3
8 12.27 POLH ERCC3 ERCC2 DDB2
9
Show member pathways
11.78 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
10 11.53 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
11
Show member pathways
11.29 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
12 11.09 POLH ERCC6 ERCC3 ERCC2

GO Terms for Trichothiodystrophy 3, Photosensitive

Cellular components related to Trichothiodystrophy 3, Photosensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.15 TCEA2 POLH MPLKIP GTF2H5 GTF2H4 GTF2H2
2 nucleoplasm GO:0005654 10.07 UVSSA TCEA2 POLH MPLKIP GTF2H5 GTF2H4
3 transcription factor TFIID complex GO:0005669 9.55 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
4 site of DNA damage GO:0090734 9.43 ERCC6 ELOA
5 transcription elongation factor complex GO:0008023 9.4 TCEA2 ERCC6
6 transcription factor TFIIH holo complex GO:0005675 9.35 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
7 core TFIIH complex portion of holo TFIIH complex GO:0000438 9.32 GTF2H4 GTF2H2
8 transcription factor TFIIH core complex GO:0000439 9.02 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2

Biological processes related to Trichothiodystrophy 3, Photosensitive according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.18 UVSSA POLH GTF2H5 GTF2H4 GTF2H2 ERCC6
2 transcription by RNA polymerase II GO:0006366 10.09 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
3 DNA repair GO:0006281 10.02 UVSSA POLH GTF2H5 GTF2H4 GTF2H2 ERCC6
4 transcription elongation from RNA polymerase II promoter GO:0006368 10.01 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 ELOA
5 response to UV GO:0009411 10 UVSSA GTF2H2 ERCC6 ERCC3 ERCC2 DDB2
6 transcription initiation from RNA polymerase II promoter GO:0006367 9.99 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
7 nucleotide-excision repair, DNA incision GO:0033683 9.99 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2
8 transcription-coupled nucleotide-excision repair GO:0006283 9.98 UVSSA GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3
9 transcription initiation from RNA polymerase I promoter GO:0006361 9.97 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
10 7-methylguanosine mRNA capping GO:0006370 9.97 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
11 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.97 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2
12 termination of RNA polymerase I transcription GO:0006363 9.96 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2
13 transcription elongation from RNA polymerase I promoter GO:0006362 9.93 GTF2H5 GTF2H4 GTF2H2 ERCC6 ERCC3 ERCC2
14 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.88 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2
15 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2
16 response to oxidative stress GO:0006979 9.8 ERCC6 ERCC3 ERCC2
17 nucleotide-excision repair GO:0006289 9.8 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2
18 DNA duplex unwinding GO:0032508 9.79 ERCC6 ERCC3 ERCC2
19 pyrimidine dimer repair GO:0006290 9.76 POLH ERCC6 DDB2
20 global genome nucleotide-excision repair GO:0070911 9.7 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2
21 embryonic organ development GO:0048568 9.65 ERCC3 ERCC2
22 translational elongation GO:0006414 9.64 TCEA2 ELOA
23 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.64 GTF2H5 ERCC2
24 nucleotide-excision repair, DNA damage recognition GO:0000715 9.63 DDB2 CETN2
25 UV protection GO:0009650 9.62 ERCC3 ERCC2
26 regulation of DNA-templated transcription, elongation GO:0032784 9.62 TCEA2 ERCC6
27 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.61 GTF2H5 GTF2H4
28 hair cell differentiation GO:0035315 9.6 ERCC3 ERCC2
29 nucleotide-excision repair, preincision complex assembly GO:0006294 9.5 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2
30 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.17 GTF2H5 GTF2H4 GTF2H2 ERCC3 ERCC2 DDB2

Molecular functions related to Trichothiodystrophy 3, Photosensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.21 UVSSA TCEA2 SLC6A17 POLH MPLKIP GTF2H5
2 protein C-terminus binding GO:0008022 9.58 ERCC6 ERCC3 ERCC2
3 RNA polymerase II general transcription initiation factor activity GO:0016251 9.43 GTF2H4 GTF2H2
4 helicase activity GO:0004386 9.43 ERCC6 ERCC3 ERCC2
5 DNA helicase activity GO:0003678 9.33 ERCC6 ERCC3 ERCC2
6 translation elongation factor activity GO:0003746 9.32 TCEA2 ELOA
7 protein N-terminus binding GO:0047485 9.26 GTF2H2 ERCC6 ERCC3 ERCC2
8 damaged DNA binding GO:0003684 8.92 POLH ERCC3 ERCC2 DDB2

Sources for Trichothiodystrophy 3, Photosensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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