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DSC
MCID: DSN001
MIFTS: 36

De Sanctis-Cacchione Syndrome (DSC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for De Sanctis-Cacchione Syndrome

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MalaCards integrated aliases for De Sanctis-Cacchione Syndrome:

Name: De Sanctis-Cacchione Syndrome 58 54 76 30 13 6 41 74
Xerodermic Idiocy 54 76
Xerodermic Idiocy of De Sanctis and Cacchione 76
Dsc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
de sanctis-cacchione syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for De Sanctis-Cacchione Syndrome

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UniProtKB/Swiss-Prot : 76 De Sanctis-Cacchione syndrome: An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset.

MalaCards based summary : De Sanctis-Cacchione Syndrome, also known as xerodermic idiocy, is related to xeroderma pigmentosum, variant type and xeroderma pigmentosum, complementation group a. An important gene associated with De Sanctis-Cacchione Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include skin, and related phenotypes are intellectual disability and ataxia

Description from OMIM: 278800
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Related Diseases for De Sanctis-Cacchione Syndrome

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Diseases related to De Sanctis-Cacchione Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, variant type 12.0
2 xeroderma pigmentosum, complementation group a 11.6
3 peripheral nervous system disease 10.4
4 neuropathy 10.4
5 dwarfism 10.4
6 spondyloenchondrodysplasia 10.2
7 moyamoya disease 1 10.2
8 epilepsy 10.1
9 focal epilepsy 10.0
10 glioma 10.0
11 atherosclerosis susceptibility 9.9
12 leukemia, chronic lymphocytic 2 9.9
13 breast cancer 9.9
14 hypercholesterolemia, familial 9.9
15 leukemia, chronic lymphocytic 9.9
16 spondyloepimetaphyseal dysplasia, strudwick type 9.9
17 pulmonary alveolar microlithiasis 9.9
18 stroke, ischemic 9.9
19 late-onset retinal degeneration 9.9
20 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.9
21 burns 9.9
22 keratoconus 9.9
23 leukemia 9.9
24 temporal lobe epilepsy 9.9
25 lymphoma 9.9
26 lymphocytic leukemia 9.9
27 rectum cancer 9.9
28 astrocytoma 9.9
29 cellulitis 9.9
30 hyperglycemia 9.9
31 cerebrovascular disease 9.9
32 toxoplasmosis 9.9
33 hypoglycemia 9.9
34 cytokine deficiency 9.9
35 leukemia, b-cell, chronic 9.9
36 reversible cerebral vasoconstriction syndrome 9.9
37 hypoxia 9.9
38 seizure disorder 9.9
39 chronic intestinal failure 9.9
40 dysspondyloenchondromatosis 9.9
41 distal trisomy 11q 9.9
42 sulfite oxidase deficiency due to molybdenum cofactor deficiency 9.9
43 cockayne syndrome 9.7 ERCC6 PGBD3
44 premature ovarian failure 11 9.6 PGBD3 ERCC6
45 uv-sensitive syndrome 9.5 ERCC6 PGBD3

Graphical network of the top 20 diseases related to De Sanctis-Cacchione Syndrome:



Diseases related to De Sanctis-Cacchione Syndrome
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Symptoms & Phenotypes for De Sanctis-Cacchione Syndrome

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Human phenotypes related to De Sanctis-Cacchione Syndrome:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 ataxia 33 HP:0001251
3 spasticity 33 HP:0001257
4 microcephaly 33 HP:0000252
5 sensorineural hearing impairment 33 HP:0000407
6 photophobia 33 HP:0000613
7 melanoma 33 HP:0002861
8 keratitis 33 HP:0000491
9 areflexia 33 HP:0001284
10 conjunctivitis 33 HP:0000509
11 severe short stature 33 HP:0003510
12 mental deterioration 33 HP:0001268
13 hyporeflexia 33 HP:0001265
14 choreoathetosis 33 HP:0001266
15 cutaneous photosensitivity 33 HP:0000992
16 cerebellar atrophy 33 HP:0001272
17 ectropion 33 HP:0000656
18 telangiectasia 33 HP:0001009
19 poikiloderma 33 HP:0001029
20 entropion 33 HP:0000621
21 dermal atrophy 33 HP:0004334
22 olivopontocerebellar atrophy 33 HP:0002542
23 defective dna repair after ultraviolet radiation damage 33 HP:0003079
24 gonadal hypoplasia 33 HP:0008639

Symptoms via clinical synopsis from OMIM:

58
Neuro:
spasticity
microcephaly
mental deterioration
hyporeflexia
choreoathetosis
more
Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Misc:
defective dna repair after ultraviolet radiation damage
may occur in any one of the 7 complementation groups, but most often in those of complementation group d (278730)

Radiology:
cerebral and olivopontocerebellar atrophy

Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Growth:
dwarfism

G U:
gonadal hypoplasia

Clinical features from OMIM:

278800
Sources

Drugs & Therapeutics for De Sanctis-Cacchione Syndrome

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Search Clinical Trials , NIH Clinical Center for De Sanctis-Cacchione Syndrome

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Genetic Tests for De Sanctis-Cacchione Syndrome

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Genetic tests related to De Sanctis-Cacchione Syndrome:

# Genetic test Affiliating Genes
1 De Sanctis-Cacchione Syndrome 30 ERCC6
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Anatomical Context for De Sanctis-Cacchione Syndrome

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MalaCards organs/tissues related to De Sanctis-Cacchione Syndrome:

42
Skin
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Publications for De Sanctis-Cacchione Syndrome

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Articles related to De Sanctis-Cacchione Syndrome:

(show all 17)
# Title Authors Year
1
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. ( 28255305 )
2017
2
De Sanctis-Cacchione syndrome: A case report and literature review. ( 28491977 )
2015
3
Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia. ( 24803908 )
2014
4
De Sanctis-Cacchione syndrome. ( 24177634 )
2013
5
De Sanctis-Cacchione syndrome in a female infant--case report. ( 24474111 )
2013
6
De sanctis cacchione syndrome. ( 20921639 )
1999
7
De Sanctis Cacchione syndrome. ( 8406720 )
1993
8
De-Sanctis cacchione syndrome. ( 7182366 )
1982
9
The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies. ( 6280438 )
1982
10
Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione Syndrome. ( 7305444 )
1981
11
De Sanctis-Cacchione syndrome. ( 453864 )
1979
12
Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome). ( 701525 )
1978
13
The genetic defect in the de Sanctis-Cacchione syndrome. ( 4436596 )
1974
14
Xerodermic idiocy in identical twins. ( 4443986 )
1974
15
Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism. ( 4683062 )
1973
16
The De-Sanctis Cacchione Syndrome. ( 29176128 )
1969
17
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME. ( 14246158 )
1965
Sources

Variations for De Sanctis-Cacchione Syndrome

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ClinVar genetic disease variations for De Sanctis-Cacchione Syndrome:

6 (show top 50) (show all 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
2 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
3 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
4 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
5 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
6 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
7 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
8 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
9 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
10 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
11 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
12 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
13 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
14 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
15 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
16 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
17 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
18 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
19 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
20 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
21 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
22 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
23 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh38 Chromosome 10, 49483503: 49483503
24 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh37 Chromosome 10, 50691549: 50691549
25 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
26 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
27 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh37 Chromosome 10, 50713929: 50713929
28 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh38 Chromosome 10, 49505883: 49505883
29 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh38 Chromosome 10, 49474074: 49474074
30 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh37 Chromosome 10, 50682120: 50682120
31 ERCC6 NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 GRCh38 Chromosome 10, 49530797: 49530797
32 ERCC6 NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 GRCh37 Chromosome 10, 50738843: 50738843
33 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
34 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
35 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
36 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
37 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh37 Chromosome 10, 50690855: 50690855
38 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh38 Chromosome 10, 49482809: 49482809
39 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh37 Chromosome 10, 50669519: 50669519
40 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh38 Chromosome 10, 49461473: 49461473
41 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh37 Chromosome 10, 50732195: 50732195
42 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh38 Chromosome 10, 49524149: 49524149
43 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 NCBI36 Chromosome 10, 50402201: 50402201
44 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh37 Chromosome 10, 50736472: 50736472
45 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh38 Chromosome 10, 49528426: 49528426
46 ERCC6 NM_000124.3(ERCC6): c.3634T> A (p.Cys1212Ser) single nucleotide variant Uncertain significance rs886042655 GRCh37 Chromosome 10, 50678372: 50678372
47 ERCC6 NM_000124.3(ERCC6): c.3634T> A (p.Cys1212Ser) single nucleotide variant Uncertain significance rs886042655 GRCh38 Chromosome 10, 49470326: 49470326
48 ERCC6 NM_000124.3(ERCC6): c.4438_4440delTCT (p.Ser1480del) deletion Uncertain significance rs886047032 GRCh38 Chromosome 10, 49458857: 49458859
49 ERCC6 NM_000124.3(ERCC6): c.4438_4440delTCT (p.Ser1480del) deletion Uncertain significance rs886047032 GRCh37 Chromosome 10, 50666903: 50666905
50 ERCC6 NM_000124.3(ERCC6): c.3453A> G (p.Leu1151=) single nucleotide variant Conflicting interpretations of pathogenicity rs771604820 GRCh37 Chromosome 10, 50678553: 50678553
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Expression for De Sanctis-Cacchione Syndrome

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Search GEO for disease gene expression data for De Sanctis-Cacchione Syndrome.
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Pathways for De Sanctis-Cacchione Syndrome

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GO Terms for De Sanctis-Cacchione Syndrome

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Cellular components related to De Sanctis-Cacchione Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.96 ERCC6 PGBD3
2 transcription elongation factor complex GO:0008023 8.62 ERCC6 PGBD3

Biological processes related to De Sanctis-Cacchione Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.62 ERCC6 PGBD3
2 cellular response to DNA damage stimulus GO:0006974 9.61 ERCC6 PGBD3
3 DNA repair GO:0006281 9.61 ERCC6 PGBD3
4 response to oxidative stress GO:0006979 9.6 ERCC6 PGBD3
5 response to toxic substance GO:0009636 9.59 ERCC6 PGBD3
6 multicellular organism growth GO:0035264 9.58 ERCC6 PGBD3
7 transcription-coupled nucleotide-excision repair GO:0006283 9.58 ERCC6 PGBD3
8 DNA duplex unwinding GO:0032508 9.57 ERCC6 PGBD3
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.56 ERCC6 PGBD3
10 response to UV GO:0009411 9.55 ERCC6 PGBD3
11 activation of JUN kinase activity GO:0007257 9.54 ERCC6 PGBD3
12 base-excision repair GO:0006284 9.52 ERCC6 PGBD3
13 positive regulation of protein tyrosine kinase activity GO:0061098 9.51 ERCC6 PGBD3
14 photoreceptor cell maintenance GO:0045494 9.49 ERCC6 PGBD3
15 positive regulation of gene expression, epigenetic GO:0045815 9.48 ERCC6 PGBD3
16 response to gamma radiation GO:0010332 9.46 ERCC6 PGBD3
17 response to X-ray GO:0010165 9.43 ERCC6 PGBD3
18 positive regulation of DNA-templated transcription, elongation GO:0032786 9.4 ERCC6 PGBD3
19 activation of JNKK activity GO:0007256 9.37 ERCC6 PGBD3
20 regulation of DNA-templated transcription, elongation GO:0032784 9.32 ERCC6 PGBD3
21 response to UV-B GO:0010224 9.26 ERCC6 PGBD3
22 pyrimidine dimer repair GO:0006290 9.16 ERCC6 PGBD3
23 response to superoxide GO:0000303 8.96 ERCC6 PGBD3
24 transcription elongation from RNA polymerase I promoter GO:0006362 8.62 ERCC6 PGBD3

Molecular functions related to De Sanctis-Cacchione Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.4 ERCC6 PGBD3
2 protein-containing complex binding GO:0044877 9.37 ERCC6 PGBD3
3 protein C-terminus binding GO:0008022 9.32 ERCC6 PGBD3
4 helicase activity GO:0004386 9.26 ERCC6 PGBD3
5 protein N-terminus binding GO:0047485 9.16 ERCC6 PGBD3
6 DNA-dependent ATPase activity GO:0008094 8.96 ERCC6 PGBD3
7 protein tyrosine kinase activator activity GO:0030296 8.62 ERCC6 PGBD3
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Sources for De Sanctis-Cacchione Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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