BGS
MCID: BLL001
MIFTS: 51

Baller-Gerold Syndrome (BGS) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Baller-Gerold Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Baller-Gerold Syndrome:

Name: Baller-Gerold Syndrome 52 11 23 48 24 25 54 70 27 12 50 13 68
Craniosynostosis-Radial Aplasia Syndrome 48 25 70
Craniosynostosis with Radial Defects 48 25 70
 
Bgs 48 25 70
Craniosynostosis Radial Aplasia Syndrome 39

Characteristics:

Orphanet epidemiological data:

54
baller-gerold syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
baller-gerold syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 218600
Disease Ontology11 DOID:0050654
Orphanet54 ORPHA1225
SNOMED-CT62 77608001
MESH via Orphanet40 C536788
UMLS via Orphanet69 C0265308
ICD10 via Orphanet31 Q75.0
MedGen37 C0265308

Summaries for Baller-Gerold Syndrome

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NIH Rare Diseases:48 Baller-gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. many cases of baller-gerold syndrome are caused by mutations in the recql4 gene. these cases are inherited in an autosomal recessive manner. in a few reported cases, the characteristic features of baller-gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders.  treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. the symptoms of baller-gerold syndrome overlap with features of rothmund-thomson syndrome and rapadilino syndrome which are also caused by the recql4 gene. researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms. last updated: 5/25/2011

MalaCards based summary: Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to craniosynostosis and hydrocephalus, and has symptoms including Array, Array and Array. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways are Cytosolic iron-sulfur cluster assembly and Fanconi anemia pathway. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and neoplasm.

Disease Ontology:11 A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone.

Genetics Home Reference:25 Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.

UniProtKB/Swiss-Prot:70 Baller-Gerold syndrome: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.

Description from OMIM:52 218600

GeneReviews for NBK1204

Related Diseases for Baller-Gerold Syndrome

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Graphical network of the top 20 diseases related to Baller-Gerold Syndrome:



Diseases related to baller-gerold syndrome

Symptoms & Phenotypes for Baller-Gerold Syndrome

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Symptoms by clinical synopsis from OMIM:

218600

Clinical features from OMIM:

218600

Human phenotypes related to Baller-Gerold Syndrome:

 54 64 (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ureter54 Occasional (29-5%)
2 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
3 hydronephrosis64 54 Occasional (29-5%) HP:0000126
4 narrow mouth64 54 Frequent (79-30%) HP:0000160
5 cleft palate64 54 Occasional (29-5%) HP:0000175
6 high palate64 54 Frequent (79-30%) HP:0000218
7 large fontanelles64 54 Very frequent (99-80%) HP:0000239
8 brachyturricephaly64 54 Very frequent (99-80%) HP:0000244
9 brachycephaly54 Very frequent (99-80%)
10 narrow face64 54 Occasional (29-5%) HP:0000275
11 epicanthus64 54 Occasional (29-5%) HP:0000286
12 hypertelorism64 54 Occasional (29-5%) HP:0000316
13 broad forehead64 54 Occasional (29-5%) HP:0000337
14 micrognathia64 54 Occasional (29-5%) HP:0000347
15 conductive hearing impairment64 54 Occasional (29-5%) HP:0000405
16 prominent nasal bridge64 54 Occasional (29-5%) HP:0000426
17 narrow nasal bridge64 54 Occasional (29-5%) HP:0000446
18 proptosis64 54 Very frequent (99-80%) HP:0000520
19 hypotelorism64 54 Occasional (29-5%) HP:0000601
20 nystagmus64 54 Occasional (29-5%) HP:0000639
21 poikiloderma64 54 Occasional (29-5%) HP:0001029
22 abnormality of the metacarpal bones64 54 Frequent (79-30%) HP:0001163
23 oligodactyly (hands)54 Very frequent (99-80%)
24 abnormality of the carpal bones64 54 Frequent (79-30%) HP:0001191
25 growth delay54 Very frequent (99-80%)
26 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
27 failure to thrive in infancy64 54 Very frequent (99-80%) HP:0001531
28 anteriorly placed anus64 54 Frequent (79-30%) HP:0001545
29 abnormality of the cardiac septa64 54 Occasional (29-5%) HP:0001671
30 frontal bossing64 54 Very frequent (99-80%) HP:0002007
31 anal atresia64 54 Occasional (29-5%) HP:0002023
32 malabsorption64 54 Frequent (79-30%) HP:0002024
33 scoliosis64 54 Occasional (29-5%) HP:0002650
34 lymphoma64 54 Occasional (29-5%) HP:0002665
35 osteosarcoma64 54 Occasional (29-5%) HP:0002669
36 short nose64 54 Frequent (79-30%) HP:0003196
37 short stature64 54 Very frequent (99-80%) HP:0004322
38 bowing of the long bones64 54 Frequent (79-30%) HP:0006487
39 aplasia/hypoplasia of the patella64 54 Frequent (79-30%) HP:0006498
40 aplasia/hypoplasia of the radius64 54 Very frequent (99-80%) HP:0006501
41 aplasia/hypoplasia of the thumb64 54 Very frequent (99-80%) HP:0009601
42 abnormal localization of kidney64 54 Occasional (29-5%) HP:0100542
43 urogenital fistula64 54 Occasional (29-5%) HP:0100589
44 abnormality of the kidney64 HP:0000077
45 rectovaginal fistula64 HP:0000143
46 bifid uvula64 HP:0000193
47 hydrocephalus64 HP:0000238
48 low-set, posteriorly rotated ears64 HP:0000368
49 underdeveloped nasal alae64 HP:0000430
50 choanal stenosis64 HP:0000452
51 strabismus64 HP:0000486
52 downslanted palpebral fissures64 HP:0000494
53 myopia64 HP:0000545
54 optic atrophy64 HP:0000648
55 rib fusion64 HP:0000902
56 intellectual disability64 HP:0001249
57 seizures64 HP:0001250
58 agenesis of corpus callosum64 HP:0001274
59 abnormal heart morphology64 HP:0001627
60 polymicrogyria64 HP:0002126
61 hypoplasia of the radius64 HP:0002984
62 limited elbow movement64 HP:0002996
63 hypoplasia of the ulna64 HP:0003022
64 ulnar bowing64 HP:0003031
65 patellar hypoplasia64 HP:0003065
66 spina bifida occulta64 HP:0003298
67 abnormality of the vertebrae64 HP:0003468
68 absent radius64 HP:0003974
69 carpal bone aplasia64 HP:0004231
70 flat forehead64 HP:0004425
71 coronal craniosynostosis64 HP:0004440
72 sagittal craniosynostosis64 HP:0004442
73 lambdoidal craniosynostosis64 HP:0004443
74 perineal fistula64 HP:0004871
75 anomalous splenoportal venous system64 HP:0005201
76 short humerus64 HP:0005792
77 aphalangy of the hands64 HP:0005886
78 limited shoulder movement64 HP:0006467
79 midface capillary hemangioma64 HP:0007452
80 carpal synostosis64 HP:0009702
81 aplasia of metacarpal bones64 HP:0010048
82 bicoronal synostosis64 HP:0011318
83 hand oligodactyly64 HP:0001180

GenomeRNAi Phenotypes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.4BRIP1, ERCC1, ERCC2, ERCC3, RECQL, RECQL4

MGI Mouse Phenotypes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9BRIP1, ERCC1, ERCC2, ERCC3, RECQL4, WRN
2MP:00053808.6CECR2, COL2A1, DDX11, ERCC1, RECQL4, SALL1
3MP:00053828.3CECR2, COL2A1, ERCC3, FOXI1, RECQL4, TWIST1
4MP:00053787.1CECR2, COL2A1, DDX11, ERCC1, ERCC2, ERCC3
5MP:00053906.6COL2A1, ERCC1, ERCC2, ERCC3, FOXI1, RECQL4
6MP:00107686.3CECR2, COL2A1, DDX11, ERCC1, ERCC2, ERCC3
7MP:00053846.1BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB

Drugs & Therapeutics for Baller-Gerold Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Baller-Gerold Syndrome


Cochrane evidence based reviews: craniosynostosis radial aplasia syndrome

Genetic Tests for Baller-Gerold Syndrome

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Genetic tests related to Baller-Gerold Syndrome:

id Genetic test Affiliating Genes
1 Baller-Gerold Syndrome27 24 RECQL4

Anatomical Context for Baller-Gerold Syndrome

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MalaCards organs/tissues related to Baller-Gerold Syndrome:

36
Bone, Kidney, Heart

Publications for Baller-Gerold Syndrome

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Articles related to Baller-Gerold Syndrome:

(show all 40)
idTitleAuthorsYear
1
Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. (25966250)
2015
2
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. (24635570)
2015
3
Baller-gerold syndrome a rare cause of heart-hand syndrome. (22347665)
2011
4
Baller-Gerold syndrome associated with dextrocardia. (21614991)
2011
5
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. (20196403)
2009
6
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. (19291770)
2009
7
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome. (19753208)
2008
8
Baller-Gerold syndrome: Further evidence for association with prenatal exposure to valproate. (19966981)
2008
9
Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. (15789214)
2006
10
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (15964893)
2006
11
Baller-Gerold syndrome after fetal exposure to sodium valproate. (15732083)
2005
12
Expanding the phenotypic spectrum of the Baller-Gerold syndrome. (14577674)
2003
13
Baller-Gerold syndrome. (12557968)
2002
14
Another TWIST on Baller-Gerold syndrome. (11754069)
2001
15
A case of Baller-Gerold syndrome. (10327256)
1999
16
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. (9934984)
1999
17
Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome. (9856554)
1998
18
Baller-Gerold syndrome associated with congenital portal venous malformation. (9733037)
1998
19
Baller Gerold syndrome and Fanconi anaemia. (9450894)
1998
20
Immunodeficiency in a patient with Baller-Gerold syndrome: a reason for early demise? (9786296)
1998
21
Is there a Baller-Gerold syndrome? (8741920)
1996
22
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome. (8741921)
1996
23
A case of Baller-Gerold syndrome following in vitro fertilization-embryo transfer. (8825173)
1996
24
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome. (8552221)
1995
25
Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome. (7606324)
1995
26
Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome. (8160763)
1994
27
Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature. (7957363)
1994
28
Further delineation of the Baller-Gerold syndrome. (8465861)
1993
29
Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome. (8349962)
1993
30
Baller-Gerold syndrome: a postmortem examination. (8291562)
1993
31
Baller-Gerold Syndrome (20301383)
1993
32
The Baller-Gerold syndrome. (1583650)
1992
33
Baller-Gerold syndrome: case report and clinical and radiological review. (1536180)
1992
34
Baller-Gerold syndrome associated with congenital hydrocephalus. (1951434)
1991
35
Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). (2074565)
1990
36
Baller-Gerold syndrome: an 11th case of craniosynostosis and radial aplasia. (2260585)
1990
37
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
38
Brief clinical report: a sixth report (eighth case) of craniosynostosis-radial aplasia (Baller-Gerold) syndrome. (7315870)
1981
39
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. (7363501)
1980
40
Craniosynostosis-radial aplasia: Baller-Gerold syndrome. (517480)
1979

Variations for Baller-Gerold Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Baller-Gerold Syndrome:

70
id Symbol AA change Variation ID SNP ID
1RECQL4p.Arg1021TrpVAR_026591

Clinvar genetic disease variations for Baller-Gerold Syndrome:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_ 004260.3(RECQL4): c.1048_ 1049delAG (p.Arg350Glyfs)deletionPathogenicrs746636748GRCh38Chr 8, 144516070: 144516071
2RECQL4NM_ 004260.3(RECQL4): c.1816G> T (p.Glu606Ter)SNVPathogenicrs878854644GRCh37Chr 8, 145739635: 145739635
3RECQL4NM_ 004260.3(RECQL4): c.2379_ 2380dupAA (p.Ser794Lysfs)duplicationPathogenicrs878854645GRCh37Chr 8, 145738684: 145738685
4RECQL4NM_ 004260.3(RECQL4): c.3072_ 3073delAG (p.Val1026Alafs)deletionPathogenicrs771538008GRCh37Chr 8, 145737690: 145737691
5RECQL4NM_ 004260.3(RECQL4): c.1131_ 1131+3delGGTAdeletionPathogenicrs1060501353GRCh38Chr 8, 144515985: 144515988
6RECQL4NM_ 004260.3(RECQL4): c.805delT (p.Trp269Glyfs)deletionPathogenicrs1060501370GRCh37Chr 8, 145741698: 145741698
7RECQL4NM_ 004260.3(RECQL4): c.2547_ 2548delGT (p.Phe850Profs)deletionPathogenicrs778141083GRCh38Chr 8, 144513054: 144513055
8RECQL4NM_ 004260.3(RECQL4): c.3502+1G> CSNVLikely pathogenicrs757563486GRCh38Chr 8, 144511680: 144511680
9RECQL4NM_ 004260.3(RECQL4): c.1568_ 1573delGCCCCTinsCCCCC (p.Ser523Thrfs)indelPathogenicrs1060501383GRCh37Chr 8, 145740367: 145740372
10RECQL4NM_ 004260.3(RECQL4): c.1015delC (p.Leu339Cysfs)deletionPathogenicrs1060501384GRCh38Chr 8, 144516104: 144516104
11RECQL4NM_ 004260.3(RECQL4): c.2269C> T (p.Gln757Ter)SNVPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
12RECQL4NM_ 004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionPathogenic/ Likely pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
13RECQL4NM_ 004260.3(RECQL4): c.3061C> T (p.Arg1021Trp)SNVPathogenicrs137853232GRCh37Chr 8, 145737702: 145737702
14RECQL4NM_ 004260.3(RECQL4): c.3056-2A> CSNVPathogenicrs786200889GRCh37Chr 8, 145737709: 145737709
15RECQL4NM_ 004260.3(RECQL4): c.2464-1G> CSNVPathogenicrs398124117GRCh37Chr 8, 145738522: 145738522

Expression for genes affiliated with Baller-Gerold Syndrome

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Search GEO for disease gene expression data for Baller-Gerold Syndrome.

Pathways for genes affiliated with Baller-Gerold Syndrome

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GO Terms for genes affiliated with Baller-Gerold Syndrome

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Cellular components related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.2ERCC2, ERCC3
2holo TFIIH complexGO:000567510.2ERCC2, ERCC3
3chromosomeGO:00056949.9DDX11, RECQL, RECQL4, RECQL5, WRN
4transcription factor TFIID complexGO:00056698.9ERCC1, ERCC2, ERCC3
5nucleoplasmGO:00056547.4BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB
6nucleusGO:00056345.4BRIP1, CECR2, DDX11, ERCC1, ERCC2, ERCC3

Biological processes related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1G-quadruplex DNA unwindingGO:004480610.6DDX11, WRN
2DNA strand renaturationGO:000073310.6RECQL, RECQL4
3replication fork processingGO:003129710.6DDX11, WRN
4telomeric D-loop disassemblyGO:006182010.5RECQL4, WRN
5strand displacementGO:000073210.5BRIP1, WRN
6outer ear morphogenesisGO:004247310.5SALL1, TWIST1
7multicellular organism agingGO:001025910.5ERCC1, WRN
8replicative cell agingGO:000130210.4ERCC1, WRN
9t-circle formationGO:009065610.4ERCC1, WRN
10double-strand break repairGO:000630210.2BRIP1, ERCC1, WRN
11double-strand break repair via homologous recombinationGO:000072410.0RECQL, RECQL4, RECQL5, WRN
12hair cell differentiationGO:003531510.0ERCC2, ERCC3
13nucleotide-excision repair, DNA duplex unwindingGO:000071710.0ERCC2, ERCC3
14nucleotide-excision repair, preincision complex assemblyGO:000629410.0ERCC2, ERCC3
15regulation of mitotic cell cycle phase transitionGO:190199010.0ERCC2, ERCC3
16termination of RNA polymerase I transcriptionGO:00063639.9ERCC2, ERCC3
17transcription elongation from RNA polymerase I promoterGO:00063629.8ERCC2, ERCC3
18nucleobase-containing compound metabolic processGO:00061399.8BRIP1, DDX11, ERCC2, WRN
19DNA recombinationGO:00063109.7ERCC1, RECQL, RECQL4, RECQL5, WRN
20DNA replicationGO:00062609.6BRIP1, DDX11, RECQL4, RECQL5, TWNK, WRN
21embryonic organ developmentGO:00485689.6ERCC1, ERCC2, ERCC3
22global genome nucleotide-excision repairGO:00709119.6ERCC1, ERCC2, ERCC3
23nucleotide-excision repairGO:00062899.6ERCC1, ERCC2, ERCC3
24nucleotide-excision repair, DNA incisionGO:00336839.6ERCC1, ERCC2, ERCC3
25nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.6ERCC1, ERCC2, ERCC3
26nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.6ERCC1, ERCC2, ERCC3
27nucleotide-excision repair, preincision complex stabilizationGO:00062939.6ERCC1, ERCC2, ERCC3
28response to oxidative stressGO:00069799.2ERCC1, ERCC2, ERCC3, WRN
29transcription-coupled nucleotide-excision repairGO:00062839.2ERCC1, ERCC2, ERCC3
30DNA duplex unwindingGO:00325089.0BRIP1, DDX11, ERCC2, RECQL, RECQL4, RECQL5
31UV protectionGO:00096508.9ERCC1, ERCC2, ERCC3
32cellular response to DNA damage stimulusGO:00069748.2BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB
33DNA repairGO:00062817.7BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FANCB

Molecular functions related to Baller-Gerold Syndrome according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040510.8RECQL4, WRN
2annealing helicase activityGO:003631010.7RECQL, RECQL4
3G-quadruplex DNA bindingGO:005188010.7DDX11, WRN
4oxidized purine DNA bindingGO:003235710.5RECQL4, WRN
53-5 DNA helicase activityGO:004313810.5ERCC3, WRN
65-3 DNA helicase activityGO:004313910.4ERCC2, TWNK
74 iron, 4 sulfur cluster bindingGO:005153910.2BRIP1, DDX11, ERCC2
8ATP-dependent 3-5 DNA helicase activityGO:004314010.2RECQL, RECQL4, RECQL5, WRN
9four-way junction helicase activityGO:000937810.1RECQL, RECQL4, RECQL5, WRN
10DNA helicase activityGO:000367810.1RECQL, RECQL5, TWNK, WRN
11hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:001681810.1BRIP1, DDX11, ERCC2
12iron-sulfur cluster bindingGO:005153610.1BRIP1, DDX11, ERCC2
13telomeric D-loop bindingGO:006182110.0RECQL4, WRN
14RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.9ERCC2, ERCC3
15DNA-dependent ATPase activityGO:00080949.9DDX11, ERCC2, ERCC3
16single-stranded DNA bindingGO:00036979.6DDX11, ERCC1, TWNK
17ATP-dependent DNA helicase activityGO:00040039.0BRIP1, DDX11, ERCC2, ERCC3, RECQL, WRN
18ATP-dependent helicase activityGO:00080269.0BRIP1, DDX11, ERCC2, RECQL, RECQL4, RECQL5
19nucleic acid bindingGO:00036768.6BRIP1, DDX11, ERCC2, RECQL, RECQL5, SALL1
20ATP bindingGO:00055248.2BRIP1, DDX11, ERCC2, ERCC3, RECQL, RECQL4
21helicase activityGO:00043868.2BRIP1, DDX11, ERCC2, ERCC3, RECQL, RECQL4
22hydrolase activityGO:00167878.0BRIP1, DDX11, ERCC1, ERCC2, ERCC3, RECQL
23DNA bindingGO:00036776.9BRIP1, DDX11, ERCC1, ERCC2, ERCC3, FOXI1

Sources for Baller-Gerold Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet