BPES
MCID: BLP032
MIFTS: 42

Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 (BPES) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Aliases & Descriptions for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

Name: Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 54 13
Blepharophimosis, Ptosis, and Epicanthus Inversus 54 23 24 25 42 69
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 38 12 25 66 14
Blepharophimosis Syndrome 23 24 25 66
Bpes 23 24 25 66
Blepharophimosis Syndrome Type 1 50 29 69
Blepharophimosis Syndrome Type 2 50 29 69
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome 56 29
Blepharophimosis, Ptosis, and Epicanthus Inversus Without Premature Ovarian Failure 50
Blepharophimosis, Ptosis, Epicanthus Inversus with Ovarian Failure 50
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 1 50
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 50
Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 2 54
Blepharophimosis, Ptosis, and Epicanthus Inversus Type Ii 24
Blepharophimosis, Ptosis, and Epicanthus Inversus Type 1 24
Blepharophimosis, Ptosis, and Epicanthus Inversus Type I 24
Blepharophimosis, Ptosis, and Epicanthus Inversus Type 2 24
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome 12
Bpes Without Premature Ovarian Failure 50
Bpes with Premature Ovarian Failure 50
Autosomal Recessive Bpes Type I 66
Blepharophimosis Types 1 and 2 56
Autosomal Dominant Bpes Type I 66
Bpes Without Ovarian Failure 66
Bpes with Ovarian Failure 66
Bpes Type Ii 66
Bpes Type 1 50
Bpes Type 2 50
Bpes Type I 66
Bpes Ii 24
Bpes I 24
Bpes 1 24
Bpes 2 24

Characteristics:

Orphanet epidemiological data:

56
blepharophimosis-epicanthus inversus-ptosis syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

GeneReviews:

23
blepharophimosis, epicanthus inversus, and ptosis, type 1:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance To date, almost all individuals heterozygous for a foxl2 pathogenic variant have the bpes phenotype; thus, penetrance is nearly complete for the eyelid phenotype...

Classifications:



External Ids:

OMIM 54 110100
Disease Ontology 12 DOID:14778
SNOMED-CT 64 79833006
Orphanet 56 ORPHA126
ICD10 via Orphanet 34 Q10.3
UMLS 69 C0220663

Summaries for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

NIH Rare Diseases : 50 blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (bpes i) is a condition, present at birth, that mainly effects the development of the eyelids.  people with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus).  because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.  blepharophimosis syndrome type 1 also causes premature ovarian failure (pof).  this condition is caused by mutations in the foxl2 gene and is inherited in an autosomal dominant pattern. last updated: 6/6/2011

MalaCards based summary : Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1, also known as blepharophimosis, ptosis, and epicanthus inversus, is related to blepharophimosis and blepharophimosis-epicanthus inversus-ptosis due to copy number variations, and has symptoms including ptosis, nystagmus and depressed nasal bridge. An important gene associated with Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 is FOXL2 (Forkhead Box L2). Affiliated tissues include Ovary, skin and eye, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus). In addition, there is an increased distance between the inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, the eyelids cannot open fully, and vision may be limited.

UniProtKB/Swiss-Prot : 66 Blepharophimosis, ptosis, and epicanthus inversus syndrome: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.

Description from OMIM: 110100
GeneReviews: NBK1441

Related Diseases for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Graphical network of the top 20 diseases related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:



Diseases related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Symptoms & Phenotypes for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Symptoms by clinical synopsis from OMIM:

110100

Clinical features from OMIM:

110100

Human phenotypes related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 56 32 Very frequent (99-80%) HP:0000508
2 nystagmus 56 32 Occasional (29-5%) HP:0000639
3 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
4 strabismus 56 32 Occasional (29-5%) HP:0000486
5 epicanthus 56 32 Very frequent (99-80%) HP:0000286
6 precocious menopause 56 32 Frequent (79-30%) HP:0100805
7 myopia 56 32 Frequent (79-30%) HP:0000545
8 blepharophimosis 56 32 Very frequent (99-80%) HP:0000581
9 synophrys 56 32 Occasional (29-5%) HP:0000664
10 abnormality of the lacrimal duct 56 32 Frequent (79-30%) HP:0011481
11 high palate 32 HP:0000218
12 wide nasal bridge 32 HP:0000431
13 increased circulating gonadotropin level 32 HP:0000837
14 female infertility 32 HP:0008222
15 telecanthus 32 HP:0000506
16 microphthalmia 32 HP:0000568
17 abnormality of the hair 32 HP:0001595
18 microcornea 32 HP:0000482
19 cupped ear 32 HP:0000378
20 premature ovarian failure 32 HP:0008209
21 hypermetropia 32 HP:0000540
22 amenorrhea 32 HP:0000141
23 abnormality of the breast 32 HP:0000769
24 epicanthus inversus 32 HP:0000537

GenomeRNAi Phenotypes related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.44 HNF1B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.44 HNF1B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.44 DIAPH2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.44 HNF1B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.44 NR5A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.44 DIAPH2 HNF1B NR5A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.44 HNF1B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.44 DIAPH2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.44 HNF1B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.44 HNF1B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.44 DIAPH2

Drugs & Therapeutics for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Search Clinical Trials , NIH Clinical Center for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Cochrane evidence based reviews: blepharophimosis, ptosis, and epicanthus inversus

Genetic Tests for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Genetic tests related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

id Genetic test Affiliating Genes
1 Blepharophimosis, Ptosis, and Epicanthus Inversus 29 24 FOXL2
2 Blepharophimosis Syndrome Type 1 29
3 Blepharophimosis Syndrome Type 2 29
4 Bpes I 24
5 Bpes Ii 24

Anatomical Context for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

MalaCards organs/tissues related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

39
Skin, Eye, Breast
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:
id Tissue Anatomical CompartmentCell Relevance
1 Ovary Primordial Follicle Pre-Granulosa Cells Affected by disease

Publications for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

66 (show all 24)
id Symbol AA change Variation ID SNP ID
1 FOXL2 p.Ile84Ser VAR_016883 rs28937884
2 FOXL2 p.Leu106Phe VAR_016885
3 FOXL2 p.Asn109Lys VAR_016886
4 FOXL2 p.Ser217Phe VAR_016887 rs797044527
5 FOXL2 p.Ser58Leu VAR_021196
6 FOXL2 p.Ala66Val VAR_021197
7 FOXL2 p.Glu69Lys VAR_021198 rs387906920
8 FOXL2 p.His104Arg VAR_021199
9 FOXL2 p.Asn105Ser VAR_021200
10 FOXL2 p.Lys193Arg VAR_021202
11 FOXL2 p.Tyr215Cys VAR_021203
12 FOXL2 p.Met65Val VAR_046490
13 FOXL2 p.Ile80Thr VAR_046491
14 FOXL2 p.Ile84Asn VAR_046492
15 FOXL2 p.Phe90Ser VAR_046493
16 FOXL2 p.Trp98Gly VAR_046494
17 FOXL2 p.Ser101Arg VAR_046495
18 FOXL2 p.Ile102Thr VAR_046496
19 FOXL2 p.Arg103Cys VAR_046497
20 FOXL2 p.Leu106Pro VAR_046498
21 FOXL2 p.Ile63Thr VAR_062545
22 FOXL2 p.Trp98Arg VAR_062546
23 FOXL2 p.Leu108Pro VAR_062547
24 FOXL2 p.Ser217Cys VAR_062549

ClinVar genetic disease variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1:

6 (show top 50) (show all 70)
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXL2 NM_023067.3(FOXL2): c.959dupG (p.Gln321Profs) duplication Pathogenic rs863225453 GRCh37 Chromosome 3, 138664606: 138664606
2 FOXL2 NM_023067.3(FOXL2): c.655C> T (p.Gln219Ter) single nucleotide variant Pathogenic rs104893741 GRCh37 Chromosome 3, 138664910: 138664910
3 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs387906321 GRCh37 Chromosome 3, 138664864: 138664893
4 FOXL2 NM_023067.3(FOXL2): c.53_54delCA (p.Pro18Argfs) deletion Pathogenic rs863225450 GRCh37 Chromosome 3, 138665511: 138665512
5 FOXL2 NM_023067.3(FOXL2): c.912_919dupACCGCCGC (p.Pro307Hisfs) duplication Pathogenic rs863225451 GRCh37 Chromosome 3, 138664646: 138664653
6 FOXL2 NM_023067.3(FOXL2): c.178_192dupGTGGCGCTCATCGCC (p.Ala64_Met65insValAlaLeuIleAla) duplication Pathogenic rs863225452 GRCh37 Chromosome 3, 138665373: 138665387
7 FOXL2 NM_023067.3(FOXL2): c.804dupC (p.Gly269Argfs) duplication Pathogenic rs797044528 GRCh37 Chromosome 3, 138664761: 138664761
8 FOXL2 NM_023067.3(FOXL2): c.855_871del17 (p.Pro287Alafs) deletion Pathogenic rs797044533 GRCh37 Chromosome 3, 138664694: 138664710
9 FOXL2 NM_023067.3(FOXL2): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic rs104893737 GRCh37 Chromosome 3, 138665408: 138665408
10 FOXL2 NM_023067.3(FOXL2): c.822C> G (p.Tyr274Ter) single nucleotide variant Pathogenic rs104893738 GRCh37 Chromosome 3, 138664743: 138664743
11 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs387906322 GRCh37 Chromosome 3, 138664867: 138664881
12 FOXL2 NM_023067.3(FOXL2): c.251T> G (p.Ile84Ser) single nucleotide variant Pathogenic rs28937884 GRCh37 Chromosome 3, 138665314: 138665314
13 FOXL2 NM_023067.3(FOXL2): c.295C> T (p.Gln99Ter) single nucleotide variant Pathogenic rs121908358 GRCh37 Chromosome 3, 138665270: 138665270
14 FOXL2 NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs104893739 GRCh37 Chromosome 3, 138664979: 138664979
15 FOXL2 NM_023067.3(FOXL2): c.855_871dup17 (p.His291Argfs) duplication Pathogenic rs797044532 GRCh37 Chromosome 3, 138664694: 138664710
16 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh37 Chromosome 3, 138665005: 138665005
17 FOXL2 NM_023067.3(FOXL2): c.205G> A (p.Glu69Lys) single nucleotide variant Pathogenic rs387906920 GRCh37 Chromosome 3, 138665360: 138665360
18 FOXL2 NM_023067.3(FOXL2): c.965_983dup19 (p.Thr329Glnfs) duplication Pathogenic rs672601358 GRCh37 Chromosome 3, 138664582: 138664600
19 FOXL2 NM_023067.3(FOXL2): c.843_859dup17 (p.Pro287Argfs) duplication Pathogenic rs672601359 GRCh37 Chromosome 3, 138664706: 138664722
20 FOXL2 NM_023067.3(FOXL2): c.142_173del32insGCGCT (p.Lys48_Ser58delinsAlaLeu) indel Pathogenic rs672601357 GRCh37 Chromosome 3, 138665392: 138665423
21 FOXL2 NM_023067.3(FOXL2): c.843_865dup23 (p.His289Argfs) duplication Pathogenic rs797044530 GRCh38 Chromosome 3, 138945858: 138945880
22 FOXL2 NM_023067.3(FOXL2): c.841_857dup17 (p.Pro287Argfs) duplication Pathogenic rs797044529 GRCh38 Chromosome 3, 138945866: 138945882
23 FOXL2 NM_023067.3(FOXL2): c.854delC (p.Pro285Argfs) deletion Pathogenic rs797044531 GRCh38 Chromosome 3, 138945869: 138945869
24 FOXL2 NM_023067.3(FOXL2): c.650C> T (p.Ser217Phe) single nucleotide variant Pathogenic rs797044527 GRCh38 Chromosome 3, 138946073: 138946073
25 FOXL2 NP_075555.1: p.Ala221(15_24) undetermined variant Pathogenic
26 ARID1B NM_020732.3(ARID1B): c.2306_2308delCCGinsTCCGCAGCCACTCC (p.Pro769Leufs) indel Pathogenic rs879253856 GRCh37 Chromosome 6, 157431630: 157431632
27 ARID1B NM_020732.3(ARID1B): c.3208_3209delAA (p.Lys1070Alafs) deletion Pathogenic rs879253745 GRCh37 Chromosome 6, 157502175: 157502176
28 ARID1B NM_020732.3(ARID1B): c.4273dupT (p.Tyr1425Leufs) duplication Pathogenic rs879253746 GRCh37 Chromosome 6, 157522001: 157522001
29 ARID1B NC_000006.11: g.(?_157099064)_(158366109_?)del deletion Pathogenic GRCh37 Chromosome 6, 157099064: 158366109
30 ARID1B NM_020732.3(ARID1B): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs879253747 GRCh37 Chromosome 6, 157488235: 157488235
31 FOXL2 NM_023067.3(FOXL2): c.1011delC (p.Thr338Profs) deletion Pathogenic rs1057516185 GRCh38 Chromosome 3, 138945712: 138945712
32 FOXL2 NM_023067.3(FOXL2): c.982delG (p.Ala328Profs) deletion Pathogenic rs1057516184 GRCh37 Chromosome 3, 138664583: 138664583
33 FOXL2 NM_023067.3(FOXL2): c.951_961dupGCCGCCGGGCC (p.Gln321Argfs) duplication Pathogenic rs1057516183 GRCh38 Chromosome 3, 138945762: 138945772
34 FOXL2 NM_023067.3(FOXL2): c.907_926dup20 (p.His312Argfs) duplication Pathogenic rs1057516182 GRCh37 Chromosome 3, 138664639: 138664658
35 FOXL2 NM_023067.3(FOXL2): c.892dupC (p.His298Profs) duplication Pathogenic rs1057516181 GRCh38 Chromosome 3, 138945831: 138945831
36 FOXL2 NM_023067.3(FOXL2): c.840_871del32 (p.Ala283Serfs) deletion Pathogenic rs1057516179 GRCh38 Chromosome 3, 138945852: 138945883
37 FOXL2 NM_023067.3(FOXL2): c.856_857delCCinsA (p.Pro286Ilefs) indel Pathogenic rs1057516180 GRCh38 Chromosome 3, 138945866: 138945867
38 FOXL2 NM_023067.3(FOXL2): c.827dupG (p.Leu277Profs) duplication Pathogenic rs1057516178 GRCh38 Chromosome 3, 138945896: 138945896
39 FOXL2 NM_023067.3(FOXL2): c.804delC (p.Gly269Alafs) deletion Pathogenic rs1057516177 GRCh37 Chromosome 3, 138664761: 138664761
40 FOXL2 NM_023067.3(FOXL2): c.777dupA (p.Arg260Thrfs) duplication Pathogenic rs1057516176 GRCh37 Chromosome 3, 138664788: 138664788
41 FOXL2 NM_023067.3(FOXL2): c.748_749delGG (p.Gly250Profs) deletion Pathogenic rs1057516175 GRCh38 Chromosome 3, 138945974: 138945975
42 FOXL2 NM_023067.3(FOXL2): c.678_705del28 (p.Ala227Profs) deletion Pathogenic rs1057516174 GRCh38 Chromosome 3, 138946018: 138946045
43 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs1057516173 GRCh37 Chromosome 3, 138664862: 138664891
44 FOXL2 NM_023067.3(FOXL2): c.674_695del22 (p.Ala225Glufs) deletion Pathogenic rs1057516172 GRCh37 Chromosome 3, 138664870: 138664891
45 FOXL2 NM_023067.3(FOXL2) duplication Pathogenic rs1057516171 GRCh38 Chromosome 3, 138946031: 138946060
46 FOXL2 NM_023067.3(FOXL2): c.662_689del28 (p.Ala221Glyfs) deletion Pathogenic rs1057516170 GRCh38 Chromosome 3, 138946034: 138946061
47 FOXL2 NM_023067.3(FOXL2): c.630_651dup22 (p.Cys218Leufs) duplication Pathogenic rs1057516166 GRCh37 Chromosome 3, 138664914: 138664935
48 FOXL2 NM_023067.3(FOXL2): c.644A> G (p.Tyr215Cys) single nucleotide variant Pathogenic rs1057516168 GRCh38 Chromosome 3, 138946079: 138946079
49 FOXL2 NM_023067.3(FOXL2): c.632C> A (p.Ser211Ter) single nucleotide variant Pathogenic rs1057516167 GRCh37 Chromosome 3, 138664933: 138664933
50 FOXL2 NM_023067.3(FOXL2): c.618delA (p.Pro207Argfs) deletion Pathogenic rs1057516165 GRCh37 Chromosome 3, 138664947: 138664947

Copy number variations for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 168663 3 131500000 156300000 Microdeletion FOXL2 Blepharophimosis-ptosis-epicanthus inversus syndrome
2 169169 3 138663066 138665982 Deletion FOXL2 Blepharophimosis-ptosis-epicanthus inversus syndrome
3 169333 3 140145755 140148491 Deletion FOXL2 Blepharophimosis syndrome
4 169334 3 140145755 140148491 Deletion FOXL2 Blepharophimosis syndrome

Expression for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Search GEO for disease gene expression data for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1.

Pathways for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

GO Terms for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

Cellular components related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.02 FOXL2 HNF1B NR5A1 RFC2 ZIC1

Biological processes related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.67 FOXL2 HNF1B NR5A1 ZIC1
2 transcription from RNA polymerase II promoter GO:0006366 9.58 FOXL2 NR5A1 ZIC1
3 cell differentiation GO:0030154 9.56 DIAPH2 FOXL2 NR5A1 ZIC1
4 ovarian follicle development GO:0001541 9.32 BMP15 FOXL2
5 female gonad development GO:0008585 9.16 FOXL2 NR5A1
6 positive regulation of transcription, DNA-templated GO:0045893 9.02 BMP15 FOXL2 HNF1B NR5A1 ZIC1
7 female gamete generation GO:0007292 8.96 BMP15 DIAPH2

Molecular functions related to Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.43 FOXL2 HNF1B NR5A1
2 DNA binding GO:0003677 9.35 FOXL2 HNF1B NR5A1 RFC2 ZIC1
3 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.16 HNF1B NR5A1
4 transcription factor activity, sequence-specific DNA binding GO:0003700 8.92 FOXL2 HNF1B NR5A1 ZIC1

Sources for Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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