MCID: BRJ001
MIFTS: 54

Borjeson-Forssman-Lehmann Syndrome

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Borjeson-Forssman-Lehmann Syndrome

MalaCards integrated aliases for Borjeson-Forssman-Lehmann Syndrome:

Name: Borjeson-Forssman-Lehmann Syndrome 53 12 49 55 36 28 13 51 41 14 69
Bfls 53 12 49 55 71
Borj 53 12 49 71
Borjeson Syndrome 53 12 49
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome 12 49
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome 49 55
Mrxsbfl 53 12
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type; Mrxsbfl 53
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type 53
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type 12
Mental Retardation, Epilepsy, and Endocrine Disorders 53
Mental Retardation, Epilepsy, and Endocrine Disorder 12
Mental Deficiency, Epilepsy and Endocrine Disorders 49
Mental Deficiency-Epilepsy- Endocrine Disorders 71
Boerjeson-Forssman-Lehmann Syndrome 71
Borjeson-Forssman Syndrome 71
Borjeson Syndrome; Borj 53

Characteristics:

Orphanet epidemiological data:

55
borjeson-forssman-lehmann syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
x-linked recessive

Miscellaneous:
majority of female carriers have skewed x-inactivation (inactivation of chromosome containing the phf6 mutation)
some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)


HPO:

31
borjeson-forssman-lehmann syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Borjeson-Forssman-Lehmann Syndrome

NIH Rare Diseases : 49 Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessivetrait, which means the disorder is fully expressed predominantly in males. Last updated: 10/20/2011

MalaCards based summary : Borjeson-Forssman-Lehmann Syndrome, also known as bfls, is related to male pseudohermaphroditism intellectual disability syndrome, verloes type and dilated cardiomyopathy, and has symptoms including seizures, macrocephaly and ptosis. An important gene associated with Borjeson-Forssman-Lehmann Syndrome is PHF6 (PHD Finger Protein 6), and among its related pathways/superpathways are Chromatin organization and Gastric cancer. Affiliated tissues include eye, prostate and bone, and related phenotypes are Increased Nanog expression and Increased Nanog expression

Disease Ontology : 12 An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has material basis in X-linked recessive inheritance of mutations in the PHF6 gene.

UniProtKB/Swiss-Prot : 71 Boerjeson-Forssman-Lehmann syndrome: A X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.

Description from OMIM: 301900

Related Diseases for Borjeson-Forssman-Lehmann Syndrome

Diseases related to Borjeson-Forssman-Lehmann Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.7
2 dilated cardiomyopathy 10.4
3 hypogonadism 10.4
4 neonatal thyrotoxicosis 10.3 LHX3 PROP1
5 isolated growth hormone deficiency, type iii 10.3 HESX1 SOX3
6 growth hormone deficiency 10.3 HESX1 PROP1 SOX3
7 nicolaides-baraitser syndrome 10.3 ARID1B SMARCA2
8 alpha thalassemia-x-linked intellectual disability syndrome 10.1 SMARCA2 SMARCA4
9 pituitary stalk interruption syndrome 10.1 HESX1 LHX4 POU1F1 SOX3
10 enamel erosion 10.1 SMARCA2 SMARCA4
11 combined pituitary hormone deficiencies, genetic forms 10.1 HESX1 LHX4 POU1F1 PROP1
12 tooth erosion 10.1 SMARCA2 SMARCA4
13 root caries 10.1 SMARCA2 SMARCA4
14 familial rhabdoid tumor 10.1 SMARCA4 SMARCB1
15 pituitary gland disease 10.1 HESX1 LHX3 POU1F1 PROP1
16 central nervous system sarcoma 10.1 SMARCA4 SMARCB1
17 schimke immunoosseous dysplasia 10.1 SMARCA2 SMARCA4
18 hypothyroidism, congenital, nongoitrous, 4 10.0 POU1F1 PROP1
19 pituitary hypoplasia 10.0 HESX1 LHX3 LHX4 POU1F1 SOX3
20 hypothyroidism due to deficient transcription factors involved in pituitary development or function 10.0 HESX1 LHX3 LHX4 POU1F1 PROP1
21 bird fancier's lung 9.9
22 combined pituitary hormone deficiency 9.9 HESX1 LHX3 LHX4 POU1F1 PROP1
23 epilepsy, familial temporal lobe, 1 9.9 SMARCA2 SMARCA4
24 tumor predisposition syndrome 9.9 SMARCA4 SMARCB1
25 septooptic dysplasia 9.8 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
26 isolated growth hormone deficiency 9.8 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
27 pituitary hormone deficiency, combined, 2 9.8 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
28 hypopituitarism 9.8 HESX1 LHX3 LHX4 POU1F1 PROP1 SOX3
29 hypertrichosis 9.2 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1 SOX3
30 coffin-siris syndrome 1 8.7 ARID1A ARID1B BANF1 PHF6 SMARCA2 SMARCA4

Graphical network of the top 20 diseases related to Borjeson-Forssman-Lehmann Syndrome:



Diseases related to Borjeson-Forssman-Lehmann Syndrome

Symptoms & Phenotypes for Borjeson-Forssman-Lehmann Syndrome

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
hypotonia
severe mental retardation (iq 10-40)
abnormal eeg (poor alpha rhythms)

SkeletalSpine:
kyphosis
mild scoliosis
narrow cervical spinal canal
scheuermann-like vertebral changes

HeadAndNeckHead:
microcephaly

EndocrineFeatures:
delayed puberty

HeadAndNeckEars:
large ears

SkeletalHands:
hypoplastic distal and middle phalanges
tapering fingers
soft, fleshy hands

GrowthWeight:
moderate obesity

SkeletalSkull:
thick calvarium

HeadAndNeckEyes:
ptosis
nystagmus
deep-set eyes
poor vision
narrow palpebral fissures

HeadAndNeckFace:
prominent supraorbital ridges
coarse facies

GrowthHeight:
short stature

GenitourinaryInternalGenitaliaMale:
cryptorchidism
small, atrophic testes
hypoplastic prostate

GenitourinaryExternalGenitaliaMale:
small penis

SkeletalFeet:
short toes
widely spaced and flexed toes

ChestBreasts:
gynecomastia, postpubertal


Clinical features from OMIM:

301900

Human phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

55 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
3 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
4 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
5 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
6 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
8 prominent supraorbital ridges 55 31 frequent (33%) Frequent (79-30%) HP:0000336
9 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
10 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 thick eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0000574
13 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
14 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
15 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
16 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
17 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
18 abnormality of the hip bone 55 31 occasional (7.5%) Occasional (29-5%) HP:0003272
19 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
20 short toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0001831
21 hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000135
22 deeply set eye 55 31 frequent (33%) Frequent (79-30%) HP:0000490
23 decreased testicular size 55 31 hallmark (90%) Very frequent (99-80%) HP:0008734
24 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
25 blepharophimosis 55 31 frequent (33%) Frequent (79-30%) HP:0000581
26 gynecomastia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000771
27 large earlobe 55 31 hallmark (90%) Very frequent (99-80%) HP:0009748
28 tapered finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0001182
29 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
30 oral cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0000202
31 scrotal hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000046
32 truncal obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001956
33 broad foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001769
34 camptodactyly of toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0001836
35 obesity 31 HP:0001513
36 eeg abnormality 31 HP:0002353
37 scoliosis 31 HP:0002650
38 kyphosis 31 HP:0002808
39 macrotia 31 HP:0000400
40 thickened calvaria 31 HP:0002684
41 visual impairment 31 HP:0000505
42 delayed puberty 31 HP:0000823
43 intellectual disability, severe 31 HP:0010864
44 micropenis 31 HP:0000054
45 generalized hypotonia 31 HP:0001290
46 shortening of all middle phalanges of the fingers 31 HP:0006110
47 cervical spinal canal stenosis 31 HP:0008445
48 scheuermann-like vertebral changes 31 HP:0008478
49 widely spaced toes 31 HP:0008094
50 shortening of all distal phalanges of the fingers 31 HP:0006118

UMLS symptoms related to Borjeson-Forssman-Lehmann Syndrome:


seizures

GenomeRNAi Phenotypes related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.4 ARID1A BANF1 PROP1 SMARCA4 SMARCB1 SMARCE1
2 Increased Nanog expression GR00371-A-2 9.4 SMARCE1
3 Increased Nanog expression GR00371-A-3 9.4 ARID1A PROP1
4 Increased Nanog expression GR00371-A-5 9.4 ARID1A BANF1 PROP1

MGI Mouse Phenotypes related to Borjeson-Forssman-Lehmann Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10 ARID1A FGF13 FLNA HESX1 LHX3 LHX4
2 endocrine/exocrine gland MP:0005379 9.91 ARID1A HESX1 LHX3 LHX4 POU1F1 PROP1
3 craniofacial MP:0005382 9.87 ARID1A FLNA HESX1 LHX3 POU1F1 SMARCA4
4 nervous system MP:0003631 9.7 POU1F1 PROP1 SMARCA4 SMARCB1 SOX3 ARID1A
5 reproductive system MP:0005389 9.23 SOX3 ARID1A FLNA LHX3 POU1F1 PROP1

Drugs & Therapeutics for Borjeson-Forssman-Lehmann Syndrome

Search Clinical Trials , NIH Clinical Center for Borjeson-Forssman-Lehmann Syndrome

Cochrane evidence based reviews: borjeson-forssman-lehmann syndrome

Genetic Tests for Borjeson-Forssman-Lehmann Syndrome

Genetic tests related to Borjeson-Forssman-Lehmann Syndrome:

# Genetic test Affiliating Genes
1 Borjeson-Forssman-Lehmann Syndrome 28 PHF6

Anatomical Context for Borjeson-Forssman-Lehmann Syndrome

MalaCards organs/tissues related to Borjeson-Forssman-Lehmann Syndrome:

38
Eye, Prostate, Bone, Testes, Skeletal Muscle, Pituitary

Publications for Borjeson-Forssman-Lehmann Syndrome

Articles related to Borjeson-Forssman-Lehmann Syndrome:

(show all 14)
# Title Authors Year
1
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. ( 28237832 )
2017
2
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. ( 24092917 )
2013
3
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females. ( 22190899 )
2011
4
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. ( 15994862 )
2006
5
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. ( 15580208 )
2004
6
Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. ( 14714754 )
2003
7
Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene. ( 14714741 )
2003
8
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27. ( 11337747 )
2001
9
Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy: a previously unreported association. ( 11173318 )
2001
10
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. ( 10071193 )
1999
11
Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family. ( 9213062 )
1997
12
The Borjeson-Forssman-Lehmann syndrome. A family study. ( 3720009 )
1986
13
Borjeson-Forssman-Lehmann syndrome in a girl. ( 6439922 )
1984
14
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. ( 564968 )
1978

Variations for Borjeson-Forssman-Lehmann Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 PHF6 p.Cys45Tyr VAR_017633 rs132630299
2 PHF6 p.Cys99Phe VAR_017634 rs132630298
3 PHF6 p.His229Arg VAR_017635 rs104894918
4 PHF6 p.Lys234Glu VAR_017636 rs104894917
5 PHF6 p.Arg257Gly VAR_017637 rs104894919
6 PHF6 p.Cys305Phe VAR_076933 rs587777489

ClinVar genetic disease variations for Borjeson-Forssman-Lehmann Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHF6 NM_001015877.1(PHF6): c.1024C> T (p.Arg342Ter) single nucleotide variant Pathogenic rs132630297 GRCh37 Chromosome X, 133559286: 133559286
2 PHF6 NM_001015877.1(PHF6): c.296G> T (p.Cys99Phe) single nucleotide variant Pathogenic rs132630298 GRCh37 Chromosome X, 133527586: 133527586
3 PHF6 NM_001015877.1(PHF6): c.700A> G (p.Lys234Glu) single nucleotide variant Pathogenic rs104894917 GRCh37 Chromosome X, 133547967: 133547967
4 PHF6 NM_001015877.1(PHF6): c.134G> A (p.Cys45Tyr) single nucleotide variant Pathogenic rs132630299 GRCh37 Chromosome X, 133511781: 133511781
5 PHF6 NM_001015877.1(PHF6): c.686A> G (p.His229Arg) single nucleotide variant Pathogenic rs104894918 GRCh37 Chromosome X, 133547953: 133547953
6 PHF6 NM_032458.2(PHF6): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs132630300 GRCh37 Chromosome X, 133511649: 133511649
7 PHF6 NM_001015877.1(PHF6): c.769A> G (p.Arg257Gly) single nucleotide variant Pathogenic rs104894919 GRCh37 Chromosome X, 133549085: 133549085
8 PHF6 NM_001015877.1(PHF6): c.22A> T (p.Lys8Ter) single nucleotide variant Pathogenic rs132630301 GRCh37 Chromosome X, 133511669: 133511669
9 PHF6 PHF6, IVS2AS, A-G, -8 single nucleotide variant Pathogenic
10 PHF6 PHF6, 1-BP INS, 27A insertion Pathogenic
11 PHF6 NM_001015877.1(PHF6): c.914G> T (p.Cys305Phe) single nucleotide variant Pathogenic rs587777489 GRCh37 Chromosome X, 133551278: 133551278
12 PHF6 NM_001015877.1(PHF6): c.418G> A (p.Ala140Thr) single nucleotide variant Pathogenic rs864309532 GRCh37 Chromosome X, 133527982: 133527982
13 PHF6 NM_032335.3(PHF6): c.255C> A (p.Cys85Ter) single nucleotide variant Pathogenic rs1114167289 GRCh37 Chromosome X, 133527545: 133527545
14 PHF6 NM_032458.2(PHF6): c.763_765delACA (p.Thr255del) deletion Likely pathogenic GRCh37 Chromosome X, 133549079: 133549081

Expression for Borjeson-Forssman-Lehmann Syndrome

Search GEO for disease gene expression data for Borjeson-Forssman-Lehmann Syndrome.

Pathways for Borjeson-Forssman-Lehmann Syndrome

GO Terms for Borjeson-Forssman-Lehmann Syndrome

Cellular components related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.72 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
2 npBAF complex GO:0071564 9.55 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
3 SWI/SNF complex GO:0016514 9.43 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
4 SWI/SNF superfamily-type complex GO:0070603 9.37 ARID1A ARID1B
5 nBAF complex GO:0071565 9.1 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
6 nucleus GO:0005634 10.16 ARID1A ARID1B BANF1 FGF13 FLNA HESX1

Biological processes related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.98 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
2 nervous system development GO:0007399 9.95 ARID1A ARID1B FGF13 SMARCA2 SMARCA4 SMARCB1
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.92 ARID1A HESX1 PHF6 POU1F1 PROP1 SMARCA2
4 covalent chromatin modification GO:0016569 9.88 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
5 animal organ morphogenesis GO:0009887 9.78 LHX3 LHX4 PROP1
6 motor neuron axon guidance GO:0008045 9.61 LHX3 LHX4
7 positive regulation by host of viral transcription GO:0043923 9.59 SMARCA4 SMARCB1
8 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.58 SMARCA4 SMARCB1
9 chromatin-mediated maintenance of transcription GO:0048096 9.57 ARID1A ARID1B
10 adenohypophysis development GO:0021984 9.56 POU1F1 PROP1
11 pituitary gland development GO:0021983 9.56 HESX1 LHX3 POU1F1 SOX3
12 nuclear transport GO:0051169 9.54 BANF1 POU1F1
13 somatotropin secreting cell differentiation GO:0060126 9.51 POU1F1 PROP1
14 positive regulation of glucose mediated signaling pathway GO:1902661 9.49 SMARCA4 SMARCB1
15 medial motor column neuron differentiation GO:0021526 9.46 LHX3 LHX4
16 nucleosome disassembly GO:0006337 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
17 chromatin remodeling GO:0006338 9.43 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1
18 ATP-dependent chromatin remodeling GO:0043044 9.02 ARID1A SMARCA2 SMARCA4 SMARCB1 SMARCE1
19 transcription, DNA-templated GO:0006351 10.17 ARID1A ARID1B HESX1 LHX3 LHX4 PHF6
20 regulation of transcription, DNA-templated GO:0006355 10.15 ARID1A ARID1B HESX1 LHX3 LHX4 PHF6
21 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 LHX3 LHX4 POU1F1 PROP1 SMARCA2 SMARCA4
22 positive regulation of transcription, DNA-templated GO:0045893 10 ARID1A LHX3 POU1F1 SMARCA2 SMARCA4
23 transcription by RNA polymerase II GO:0006366 10 LHX3 LHX4 POU1F1 PROP1 SMARCA2 SMARCA4

Molecular functions related to Borjeson-Forssman-Lehmann Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.85 HESX1 POU1F1 PROP1 SMARCA2 SMARCE1
2 sequence-specific DNA binding GO:0043565 9.85 HESX1 LHX3 LHX4 PHF6 POU1F1 PROP1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 HESX1 LHX3 POU1F1 SMARCA4 SMARCB1 SMARCE1
4 histone binding GO:0042393 9.71 PHF6 SMARCA2 SMARCA4
5 protein N-terminus binding GO:0047485 9.62 BANF1 HESX1 SMARCA4 SMARCE1
6 nucleosomal DNA binding GO:0031492 9.61 SMARCA4 SMARCB1 SMARCE1
7 RNA polymerase II transcription coactivator activity GO:0001105 9.58 POU1F1 SMARCA2 SMARCA4
8 ligand-dependent nuclear receptor binding GO:0016922 9.52 ARID1A SMARCE1
9 Tat protein binding GO:0030957 9.51 SMARCA4 SMARCB1
10 hydrolase activity, acting on acid anhydrides GO:0016817 9.49 SMARCA2 SMARCA4
11 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.48 SMARCA4 SMARCB1
12 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.46 PROP1 SMARCA4 SMARCB1 SMARCE1
13 DNA binding GO:0003677 9.44 ARID1A ARID1B BANF1 HESX1 LHX3 LHX4
14 transcription coactivator activity GO:0003713 9.43 ARID1A ARID1B SMARCA2 SMARCA4 SMARCB1 SMARCE1

Sources for Borjeson-Forssman-Lehmann Syndrome

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