MCID: TRC102
MIFTS: 50

Trichothiodystrophy 1, Photosensitive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Mental diseases

Aliases & Classifications for Trichothiodystrophy 1, Photosensitive

MalaCards integrated aliases for Trichothiodystrophy 1, Photosensitive:

Name: Trichothiodystrophy 1, Photosensitive 54 71 29
Trichothiodystrophy 12 50 25 13 52
Ibids Syndrome 12 50 24 71
Tay Syndrome 12 50 24 71
Photosensitive Trichothiodystrophy 12 14 69
Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation 24 71
Trichothiodystrophy with Congenital Ichthyosis 12 71
Trichothiodystrophy Syndromes 42 69
Ttdp 24 71
Ichthyosis with Brittle Hair, Intellectual Impairment, Decreased Fertility and Short Stature 71
Ichtyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature 50
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome 25
Ichthyosis, Congenital, with Trichothiodystrophy 71
Trrichothiodystrophy with Congenital Ichthyosis 24
Trichothiodystrophy with Congenital Ichtyosis 50
Sulfur-Deficient Brittle Hair Syndrome 12
Trichothiodystrophy, Photosensitive 24
Trichothiodystrophy Photosensitive 71
Amish Brittle Hair Brain Syndrome 69
Tricho-Thiodystrophy Disorder 69
Amish Brittle Hair Syndrome 25
Trichothiodystrophy, Type 1 69
Pibids Syndrome 71
Bids Syndrome 25
Pibids 25
Ibids 25
Ttd1 71
Ttd 25

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
skin neoplasia may appear later in life


HPO:

32
trichothiodystrophy 1, photosensitive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichothiodystrophy 1, Photosensitive

OMIM : 54
Trichothiodystrophy (TTD) 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. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). (601675)

MalaCards based summary : Trichothiodystrophy 1, Photosensitive, also known as trichothiodystrophy, is related to trichothiodystrophy 3, photosensitive and trichothiodystrophy 2, photosensitive, and has symptoms including short stature, recurrent infections and microcephaly. An important gene associated with Trichothiodystrophy 1, Photosensitive is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Gene Expression and HIV Life Cycle. Affiliated tissues include testes, skin and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and adipose tissue

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on ectodermal dysplasia.

UniProtKB/Swiss-Prot : 71 Trichothiodystrophy 1, 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. TTD1 patients manifest cutaneous photosensitivity.

Genetics Home Reference : 25 Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.

Wikipedia : 72 Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and... more...

Related Diseases for Trichothiodystrophy 1, Photosensitive

Diseases in the Trichothiodystrophy 2, Photosensitive family:

Trichothiodystrophy 3, Photosensitive Trichothiodystrophy 1, Photosensitive

Diseases related to Trichothiodystrophy 1, Photosensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 3, photosensitive 11.4
2 trichothiodystrophy 2, photosensitive 11.2
3 trichothiodystrophy 4, nonphotosensitive 10.9
4 nonphotosensitive trichothiodystrophy 10.8
5 exudative vitreoretinopathy 10.4 ERCC3 MPLKIP
6 de sanctis-cacchione syndrome 10.3 ERCC2 ERCC5 ERCC6
7 coffin syndrome 1 10.2 ERCC1 ERCC6
8 stuttering 10.0 ERCC2 ERCC3 ERCC5 ERCC6
9 autosomal genetic disease 9.9 ERCC2 ERCC3 GTF2H5 MPLKIP XPA
10 ceroid storage disease 9.8 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
11 lymphoplasmacytic lymphoma 9.8 ERCC1 ERCC2 XPA
12 sugarman brachydactyly 9.8 RAD23B XPA
13 mental retardation, autosomal recessive 45 9.7 BRIP1 ERCC1 ERCC2 HELLS
14 mycetoma 9.7 ERCC2 RAD23B XPA
15 xfe progeroid syndrome 9.2 ERCC1 ERCC2 ERCC5 RAD23B XPA
16 cerebrooculofacioskeletal syndrome 3 9.2 ERCC1 ERCC3 ERCC5 RAD23B XPA
17 cerebrooculofacioskeletal syndrome 2 9.1 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
18 myoclonic-atonic epilepsy 9.1 ERCC2 ERCC3 GTF2H1 RAD23B XPA
19 anemia, hemolytic, rh-null, regulator type 8.2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H2
20 xeroderma pigmentosum, group b 7.9 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H4 GTF2H5
21 pleomorphic adenoma carcinoma 7.9 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H1
22 3-methylglutaconic aciduria, type iii 4.7 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

Graphical network of the top 20 diseases related to Trichothiodystrophy 1, Photosensitive:



Diseases related to Trichothiodystrophy 1, Photosensitive

Symptoms & Phenotypes for Trichothiodystrophy 1, Photosensitive

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
speech delay
mental retardation (iq 45-58)
poor gross and fine motor coordination
diffuse signal hyperintensity of white matter seen on mri

Growth- Other:
growth retardation

Neoplasia:
basal cell carcinoma
squamous cell carcinoma

Skin Nails & Hair- Skin:
ichthyosis
dry skin
freckling
collodion baby
erythroderma
more
Head And Neck- Ears:
protruding ears (in some patients)
recurrent otitis (in some patients)

Head And Neck- Head:
microcephaly (<3rd centile)

Head And Neck- Mouth:
small, triangular mouth

Immunology:
recurrent infections (enteritis, otitis, and urinary infection)

Skin Nails & Hair- Nails:
hypoplastic nails
dystrophic nails
brittle nails

Head And Neck- Eyes:
nystagmus
strabismus
cataract
photophobia
microcornea (in some patients)
more
Skin Nails & Hair- Hair:
brittle hair
sparse hair
thin hair
trichorrhexis nodosa
trichoschisis
more
Growth- Weight:
low birth weight

Abdomen- Gastroin testinal:
malabsorption
chronic diarrhea

Head And Neck- Face:
receding chin
unusual face

Head And Neck- Nose:
small, thin nose

Head And Neck- Teeth:
dystrophic teeth


Clinical features from OMIM:

601675

Human phenotypes related to Trichothiodystrophy 1, Photosensitive:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 recurrent infections 32 HP:0002719
3 microcephaly 32 HP:0000252
4 brittle hair 32 HP:0002299
5 intellectual disability 32 HP:0001249
6 cataract 32 HP:0000518
7 hypogonadism 32 HP:0000135
8 fragile nails 32 HP:0001808
9 intestinal obstruction 32 HP:0005214
10 small for gestational age 32 HP:0001518
11 asthma 32 HP:0002099
12 erythroderma 32 HP:0001019
13 igg deficiency 32 HP:0004315
14 cutaneous photosensitivity 32 HP:0000992
15 flexion contracture 32 HP:0001371
16 abnormality of the thorax 32 HP:0000765
17 abnormality of the face 32 HP:0000271
18 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
19 lack of subcutaneous fatty tissue 32 HP:0007519

UMLS symptoms related to Trichothiodystrophy 1, Photosensitive:


photophobia, dry skin

GenomeRNAi Phenotypes related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 BRIP1 ERCC1 ERCC2 ERCC3 ERCC6 GTF2H1

MGI Mouse Phenotypes related to Trichothiodystrophy 1, Photosensitive:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.63 ERCC1 ERCC2 ERCC6 HELLS RAD23B XPA
2 integument MP:0010771 9.56 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 HELLS
3 neoplasm MP:0002006 9.1 XPA BRIP1 ERCC1 ERCC2 ERCC3 ERCC6

Drugs & Therapeutics for Trichothiodystrophy 1, Photosensitive

Search Clinical Trials , NIH Clinical Center for Trichothiodystrophy 1, Photosensitive

Cochrane evidence based reviews: trichothiodystrophy syndromes

Genetic Tests for Trichothiodystrophy 1, Photosensitive

Genetic tests related to Trichothiodystrophy 1, Photosensitive:

id Genetic test Affiliating Genes
1 Trichothiodystrophy 1, Photosensitive 29
2 Trichothiodystrophy, Photosensitive 24 ERCC2 ERCC3

Anatomical Context for Trichothiodystrophy 1, Photosensitive

MalaCards organs/tissues related to Trichothiodystrophy 1, Photosensitive:

39
Testes, Skin, Eye, Cortex

Publications for Trichothiodystrophy 1, Photosensitive

Variations for Trichothiodystrophy 1, Photosensitive

UniProtKB/Swiss-Prot genetic disease variations for Trichothiodystrophy 1, Photosensitive:

71 (show all 15)
id Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg112His VAR_003622 rs121913020
2 ERCC2 p.Leu461Val VAR_003623 rs121913016
3 ERCC2 p.Arg616Pro VAR_003626 rs376556895
4 ERCC2 p.Arg722Trp VAR_003630 rs121913026
5 ERCC2 p.Ala725Pro VAR_003631 rs121913018
6 ERCC2 p.Cys259Tyr VAR_008189 rs370454709
7 ERCC2 p.Arg658Cys VAR_008194 rs121913021
8 ERCC2 p.Arg658His VAR_008195 rs762141272
9 ERCC2 p.Asp673Gly VAR_008196
10 ERCC2 p.Gly713Arg VAR_008199 rs121913022
11 ERCC2 p.Arg487Gly VAR_017284
12 ERCC2 p.Arg592Pro VAR_017287
13 ERCC2 p.Ala594Pro VAR_017288
14 ERCC2 p.Arg658Gly VAR_017290
15 ERCC2 p.Cys663Arg VAR_017291 rs770367713

ClinVar genetic disease variations for Trichothiodystrophy 1, Photosensitive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GTF2H5 NM_207118.2(GTF2H5): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121434364 GRCh37 Chromosome 6, 158613139: 158613139
2 GTF2H5 NM_207118.2(GTF2H5): c.62T> C (p.Leu21Pro) single nucleotide variant Pathogenic rs121434365 GRCh37 Chromosome 6, 158613035: 158613035
3 ERCC2 NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh37 Chromosome 19, 45860626: 45860626
4 ERCC2 NM_000400.3(ERCC2): c.2173G> C (p.Ala725Pro) single nucleotide variant Pathogenic rs121913018 GRCh37 Chromosome 19, 45855484: 45855484
5 ERCC2 NM_000400.3(ERCC2): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs121913020 GRCh37 Chromosome 19, 45871913: 45871913
6 ERCC2 NM_000400.3(ERCC2): c.1972C> T (p.Arg658Cys) single nucleotide variant Pathogenic rs121913021 GRCh37 Chromosome 19, 45855838: 45855838
7 ERCC2 NM_000400.3(ERCC2): c.2137G> C (p.Gly713Arg) single nucleotide variant Pathogenic rs121913022 GRCh37 Chromosome 19, 45855520: 45855520
8 ERCC2 NM_000400.3(ERCC2): c.2164C> T (p.Arg722Trp) single nucleotide variant Pathogenic rs121913026 GRCh37 Chromosome 19, 45855493: 45855493
9 MPLKIP NM_138701.3(MPLKIP): c.505dupA (p.Thr169Asnfs) duplication Pathogenic rs768342562 GRCh37 Chromosome 7, 40172693: 40172693
10 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh37 Chromosome 19, 45868091: 45868094

Expression for Trichothiodystrophy 1, Photosensitive

Search GEO for disease gene expression data for Trichothiodystrophy 1, Photosensitive.

Pathways for Trichothiodystrophy 1, Photosensitive

Pathways related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 BRIP1 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2
2
Show member pathways
13.56 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H1 GTF2H2
3
Show member pathways
13.07 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H1 GTF2H2
4
Show member pathways
12.94 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
5
Show member pathways
12.92 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H1 GTF2H2
6
Show member pathways
12.89 BRIP1 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4
7
Show member pathways
12.58 GTF2E1 GTF2E2 GTF2H1 GTF2H2 GTF2H4 GTF2H5
8
Show member pathways
12.52 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H1
9 12.44 BRIP1 ERCC1 ERCC2 ERCC3 RAD23B XPA
10
Show member pathways
12.43 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H1
11
Show member pathways
12.33 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4 GTF2H5
12 12.24 ERCC2 ERCC3 GTF2E1 HELLS
13 12.24 GTF2E1 GTF2E2 GTF2H1 GTF2H2 GTF2H4
14 12.03 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4 GTF2H5
15
Show member pathways
11.91 ERCC2 ERCC3 ERCC6 GTF2H1 GTF2H2 GTF2H4
16
Show member pathways
11.43 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H1
17 11.23 ERCC1 ERCC2 ERCC3 ERCC6 XPA
18 11.14 GTF2E1 GTF2E2 GTF2H1 GTF2H2 GTF2H4 GTF2H5
19 10.69 BRIP1 ERCC2

GO Terms for Trichothiodystrophy 1, Photosensitive

Cellular components related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 holo TFIIH complex GO:0005675 9.63 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H2 GTF2H4
2 transcription factor TFIID complex GO:0005669 9.56 ERCC1 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H2
3 DNA replication factor A complex GO:0005662 9.43 ERCC5 XPA
4 nucleotide-excision repair factor 1 complex GO:0000110 9.4 ERCC1 XPA
5 core TFIIH complex portion of holo TFIIH complex GO:0000438 9.37 GTF2H2 GTF2H4
6 core TFIIH complex GO:0000439 9.1 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4 GTF2H5
7 nucleus GO:0005634 10.22 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
8 nucleoplasm GO:0005654 10.13 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

Biological processes related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 UV protection GO:0009650 9.97 ERCC1 ERCC2 ERCC3 ERCC5 XPA
2 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.97 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H2
3 multicellular organism growth GO:0035264 9.91 ERCC1 ERCC2 ERCC6 XPA
4 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.91 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H2
5 embryonic organ development GO:0048568 9.9 ERCC1 ERCC2 ERCC3 RAD23B
6 response to toxic substance GO:0009636 9.83 BRIP1 ERCC6 XPA
7 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.81 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H2
8 response to X-ray GO:0010165 9.66 ERCC1 ERCC6
9 nucleotide-excision repair, DNA damage recognition GO:0000715 9.65 RAD23B XPA
10 UV-damage excision repair GO:0070914 9.65 ERCC1 XPA
11 regulation of mitotic cell cycle phase transition GO:1901990 9.64 ERCC2 ERCC3
12 hair cell differentiation GO:0035315 9.64 ERCC2 ERCC3
13 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.63 GTF2H1 GTF2H4
14 DNA duplex unwinding GO:0032508 9.63 BRIP1 ERCC2
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.61 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H2 GTF2H4
16 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.23 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4 GTF2H5
17 regulation of transcription, DNA-templated GO:0006355 10.32 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2 GTF2H1
18 transcription, DNA-templated GO:0006351 10.32 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2 GTF2H1
19 cellular response to DNA damage stimulus GO:0006974 10.27 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
20 DNA repair GO:0006281 10.26 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
21 transcription from RNA polymerase II promoter GO:0006366 10.24 ERCC2 ERCC3 ERCC6 GTF2E1 GTF2E2 GTF2H1
22 transcription initiation from RNA polymerase II promoter GO:0006367 10.17 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H1 GTF2H2
23 transcription-coupled nucleotide-excision repair GO:0006283 10.16 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H1
24 transcription elongation from RNA polymerase II promoter GO:0006368 10.13 ERCC2 ERCC3 GTF2E1 GTF2E2 GTF2H1 GTF2H2
25 nucleotide-excision repair GO:0006289 10.13 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H2
26 response to UV GO:0009411 10.06 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H2 XPA
27 global genome nucleotide-excision repair GO:0070911 10.06 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4
28 transcription elongation from RNA polymerase I promoter GO:0006362 10.05 ERCC2 ERCC3 ERCC6 GTF2H1 GTF2H2 GTF2H4
29 transcription initiation from RNA polymerase I promoter GO:0006361 10.03 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4 GTF2H5
30 7-methylguanosine mRNA capping GO:0006370 10.02 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4 GTF2H5
31 nucleotide-excision repair, DNA incision GO:0033683 10.02 ERCC1 ERCC2 ERCC3 ERCC5 GTF2H1 GTF2H2
32 termination of RNA polymerase I transcription GO:0006363 10.01 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4 GTF2H5
33 response to oxidative stress GO:0006979 10 ERCC1 ERCC2 ERCC3 ERCC6 XPA

Molecular functions related to Trichothiodystrophy 1, Photosensitive according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.85 BRIP1 ERCC6 GTF2H1 HELLS
2 protein kinase activity GO:0004672 9.85 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4
3 protein C-terminus binding GO:0008022 9.73 ERCC1 ERCC2 ERCC3 ERCC6
4 helicase activity GO:0004386 9.72 BRIP1 ERCC2 ERCC3 ERCC6 HELLS
5 single-stranded DNA binding GO:0003697 9.69 ERCC1 ERCC5 RAD23B
6 damaged DNA binding GO:0003684 9.67 ERCC1 ERCC3 RAD23B XPA
7 protein N-terminus binding GO:0047485 9.65 ERCC2 ERCC3 ERCC5 ERCC6 GTF2H2
8 ATP-dependent helicase activity GO:0008026 9.49 BRIP1 ERCC2
9 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.48 BRIP1 ERCC2
10 ATP-dependent DNA helicase activity GO:0004003 9.46 BRIP1 ERCC2 ERCC3 GTF2H4
11 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.35 ERCC2 ERCC3 GTF2H1 GTF2H2 GTF2H4
12 DNA-dependent ATPase activity GO:0008094 9.1 ERCC2 ERCC3 ERCC6 GTF2H1 GTF2H2 GTF2H4
13 protein binding GO:0005515 10.33 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
14 DNA binding GO:0003677 10.13 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
15 hydrolase activity GO:0016787 10.08 BRIP1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6

Sources for Trichothiodystrophy 1, Photosensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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