MCID: THR071
MIFTS: 51

Thrombocytopenia 1

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Thrombocytopenia 1

MalaCards integrated aliases for Thrombocytopenia 1:

Name: Thrombocytopenia 1 57 53 25 75 55 73
Thrombocytopenia, X-Linked 57 53 29 13 6
Xlt 57 53 25 75
Thrombocytopenia, X-Linked, Intermittent 57 29 6
Thc1 57 53 75
X-Linked Thrombocytopenia with Normal Platelets 53 59
X-Linked Thrombocytopenia 53 25
Thrombocytopenia, X-Linked; Xlt 57
Thrombocytopenia, X-Linked, 1 57
Thrombocytopenia X-Linked 1 75
Thrombocytopenia, Type 1 ) 40
Thrombocytopenia X-Linked 75
Thc 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
allelic to wiskott-aldrich syndrome and severe congenital x-linked neutropenia


HPO:

32
thrombocytopenia 1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 313900
Orphanet 59 ORPHA852
ICD10 via Orphanet 34 D69.4
MeSH 44 D013921
UMLS 73 C1839163

Summaries for Thrombocytopenia 1

Genetics Home Reference : 25 X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of blood cell fragments involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening.

MalaCards based summary : Thrombocytopenia 1, also known as thrombocytopenia, x-linked, is related to thrombocytopenia and thrombocytopenia, x-linked, with or without dyserythropoietic anemia, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 1 is WAS (Wiskott-Aldrich Syndrome), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Aldesleukin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are epistaxis and eczema

OMIM : 57 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). (313900)

UniProtKB/Swiss-Prot : 75 Thrombocytopenia 1: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.

Related Diseases for Thrombocytopenia 1

Diseases in the Thrombocytopenia family:

Thrombocytopenia 2 Thrombocytopenia 3
Thrombocytopenia 1 Thrombocytopenia 4
Thrombocytopenia 5 Thrombocytopenia 6
Acquired Thrombocytopenia Thrombocytopenia Due to Platelet Alloimmunization
Primary Thrombocytopenia Myh9 Related Thrombocytopenia

Diseases related to Thrombocytopenia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia 28.4 GATA1 HOXA11 THPO WAS
2 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.3
3 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.1
4 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.7
5 wiskott-aldrich syndrome 11.1
6 thrombocytopenia, paris-trousseau type 11.0
7 spasticity 10.2
8 multiple sclerosis 10.1
9 thrombocytopenia due to platelet alloimmunization 10.0 SELP THPO
10 primary thrombocytopenia 10.0 SELP THPO
11 thrombocytopenic purpura, autoimmune 10.0 SELP THPO
12 hemorrhagic disease 10.0 THPO WAS
13 leukemia 9.9
14 blood coagulation disease 9.9 SELP THPO
15 thrombocytosis 9.9 SELP THPO
16 leukemia, chronic lymphocytic 2 9.8
17 leukemia, chronic lymphocytic 9.8
18 schizophrenia 9.8
19 anxiety 9.8
20 cataract 9.8
21 dermatitis 9.8
22 contact dermatitis 9.8
23 allergic contact dermatitis 9.8
24 cerebritis 9.8
25 cataract-glaucoma 9.8
26 leukemia, b-cell, chronic 9.8
27 polycythemia vera 9.7 SELP THPO
28 gray platelet syndrome 9.6 GATA1 SELP
29 dyserythropoietic anemia and thrombocytopenia 9.6 GATA1 ZFPM1
30 blood platelet disease 9.6 SELP THPO WAS
31 thrombocytopenia-absent radius syndrome 9.6 GATA1 THPO
32 alopecia areata 9.5
33 neutropenia 9.5 THPO WAS
34 megakaryocytic leukemia 9.4 GATA1 THPO
35 deficiency anemia 9.2 GATA1 THPO
36 bone marrow cancer 9.1 GATA1 SELP THPO
37 essential thrombocythemia 9.1 GATA1 SELP THPO

Graphical network of the top 20 diseases related to Thrombocytopenia 1:



Diseases related to Thrombocytopenia 1

Symptoms & Phenotypes for Thrombocytopenia 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Hematology:
intermittent thrombocytopenia
small platelets
congenital thrombocytopenia
decreased mean platelet volume (mpv)

Muscle Soft Tissue:
hematoma

Skin Nails Hair Skin:
petechiae
easy bruisability
transient eczema

Skeletal Limbs:
hemarthroses

Immunology:
elevated serum ige
elevated serum iga


Clinical features from OMIM:

313900

Human phenotypes related to Thrombocytopenia 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 eczema 32 HP:0000964
3 petechiae 32 HP:0000967
4 bruising susceptibility 32 HP:0000978
5 congenital thrombocytopenia 32 HP:0001905
6 abnormality of the musculature 32 HP:0003011
7 increased ige level 32 HP:0003212
8 increased iga level 32 HP:0003261
9 intermittent thrombocytopenia 32 HP:0004854
10 joint hemorrhage 32 HP:0005261
11 decreased mean platelet volume 32 HP:0005537

UMLS symptoms related to Thrombocytopenia 1:


petechiae of skin

MGI Mouse Phenotypes related to Thrombocytopenia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 GATA1 HOXA11 SELP WAS ZFPM1
2 hematopoietic system MP:0005397 9.35 GATA1 SELP THPO WAS ZFPM1
3 immune system MP:0005387 9.02 GATA1 SELP THPO WAS ZFPM1

Drugs & Therapeutics for Thrombocytopenia 1

Drugs for Thrombocytopenia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 1 85898-30-2, 110942-02-4
2 Analgesics Phase 1
3 Analgesics, Non-Narcotic Phase 1
4 Interleukin-2 Phase 1
5 Peripheral Nervous System Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients Active, not recruiting NCT00909363 Phase 2 Promacta (eltrombopag);Eltrombopag/promacta
2 Interleukin-2 Treatment for Wiskott-Aldrich Syndrome Completed NCT00774358 Phase 1 Interleukin-2

Search NIH Clinical Center for Thrombocytopenia 1

Genetic Tests for Thrombocytopenia 1

Genetic tests related to Thrombocytopenia 1:

# Genetic test Affiliating Genes
1 Thrombocytopenia, X-Linked 29 WAS
2 Thrombocytopenia, X-Linked, Intermittent 29

Anatomical Context for Thrombocytopenia 1

MalaCards organs/tissues related to Thrombocytopenia 1:

41
Brain, Skin, Bone, Bone Marrow, T Cells, Kidney

Publications for Thrombocytopenia 1

Articles related to Thrombocytopenia 1:

(show all 47)
# Title Authors Year
1
Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein. ( 28641574 )
2017
2
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 26409660 )
2015
3
X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: comparisons with primary myelofibrosis. ( 25421114 )
2015
4
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. ( 25931402 )
2015
5
Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. ( 26224646 )
2015
6
Disruption of hSWI/SNF-Complexes in T cells by WAS Mutations Distinguishes X-linked Thrombocytopenia from Wiskott-Aldrich Syndrome. ( 25253772 )
2014
7
Successful long-term outcome of kidney transplantation in a patient with x-linked thrombocytopenia: 9-year follow-up. ( 25221901 )
2014
8
X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations. ( 25154619 )
2014
9
X-Linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis. ( 25200405 )
2014
10
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. ( 25388447 )
2014
11
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. ( 23807894 )
2013
12
Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 23107152 )
2013
13
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation. ( 23689198 )
2013
14
Allogeneic Bone Marrow Transplantation Appears to Ameliorate IgA Nephropathy in a Patient with X-linked Thrombocytopenia. ( 24217816 )
2013
15
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. ( 24115682 )
2013
16
Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil. ( 22692965 )
2012
17
IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family. ( 22038941 )
2012
18
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? ( 21710275 )
2011
19
Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations. ( 20232122 )
2010
20
Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier. ( 19684625 )
2010
21
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. ( 20173115 )
2010
22
Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia. ( 18523994 )
2008
23
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. ( 17400488 )
2007
24
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome". ( 17881640 )
2007
25
Transgenic rescue of GATA-1-deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia. ( 14656885 )
2004
26
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 15203732 )
2004
27
IgA nephropathy associated with X-linked thrombocytopenia. ( 14981635 )
2004
28
Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype. ( 12631236 )
2003
29
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP). ( 12591280 )
2003
30
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. ( 11877312 )
2002
31
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. ( 12200364 )
2002
32
X-linked thrombocytopenia in a girl. ( 12199801 )
2002
33
X-linked thrombocytopenia caused by a novel mutation of GATA-1. ( 11675338 )
2001
34
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 11442475 )
2001
35
Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. ( 11167787 )
2001
36
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. ( 10691337 )
2000
37
Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 10729999 )
2000
38
Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. ( 10733494 )
2000
39
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 10575547 )
1999
40
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. ( 9326235 )
1997
41
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. ( 8757563 )
1996
42
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. ( 8743175 )
1996
43
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 8528199 )
1995
44
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. ( 7795648 )
1995
45
X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers. ( 1912030 )
1991
46
X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes. ( 2048054 )
1991
47
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. ( 2904289 )
1988

Variations for Thrombocytopenia 1

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 1:

75
# Symbol AA change Variation ID SNP ID
1 WAS p.Leu27Phe VAR_005823
2 WAS p.Thr48Ile VAR_005826
3 WAS p.Ala56Val VAR_005827 rs132630269
4 WAS p.Val75Met VAR_005828 rs782290433
5 WAS p.Ala236Glu VAR_005837
6 WAS p.Arg477Lys VAR_005839
7 WAS p.Thr45Met VAR_008106 rs132630273
8 WAS p.Tyr83Cys VAR_008108
9 WAS p.Pro58Arg VAR_033255 rs132630275
10 WAS p.Ile481Asn VAR_033257 rs132630276

ClinVar genetic disease variations for Thrombocytopenia 1:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 GRCh37 Chromosome X, 48542796: 48542796
2 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 GRCh38 Chromosome X, 48684407: 48684407
3 WAS NM_000377.2(WAS): c.167C> T (p.Ala56Val) single nucleotide variant Pathogenic rs132630269 GRCh37 Chromosome X, 48542706: 48542706
4 WAS NM_000377.2(WAS): c.167C> T (p.Ala56Val) single nucleotide variant Pathogenic rs132630269 GRCh38 Chromosome X, 48684317: 48684317
5 WAS NM_000377.2(WAS): c.707C> G (p.Ala236Gly) single nucleotide variant Pathogenic rs132630270 GRCh37 Chromosome X, 48545317: 48545317
6 WAS NM_000377.2(WAS): c.707C> G (p.Ala236Gly) single nucleotide variant Pathogenic rs132630270 GRCh38 Chromosome X, 48686928: 48686928
7 WAS WAS, 1-BP INS, 512C insertion Pathogenic
8 WAS NM_000377.2(WAS): c.134C> T (p.Thr45Met) single nucleotide variant Pathogenic rs132630273 GRCh37 Chromosome X, 48542673: 48542673
9 WAS NM_000377.2(WAS): c.134C> T (p.Thr45Met) single nucleotide variant Pathogenic rs132630273 GRCh38 Chromosome X, 48684284: 48684284
10 WAS NM_000377.2(WAS): c.173C> G (p.Pro58Arg) single nucleotide variant Pathogenic rs132630275 GRCh37 Chromosome X, 48542712: 48542712
11 WAS NM_000377.2(WAS): c.173C> G (p.Pro58Arg) single nucleotide variant Pathogenic rs132630275 GRCh38 Chromosome X, 48684323: 48684323
12 WAS NM_000377.2(WAS): c.1442T> A (p.Ile481Asn) single nucleotide variant Pathogenic rs132630276 GRCh37 Chromosome X, 48547812: 48547812
13 WAS NM_000377.2(WAS): c.1442T> A (p.Ile481Asn) single nucleotide variant Pathogenic rs132630276 GRCh38 Chromosome X, 48689423: 48689423
14 WAS WAS, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
15 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign rs58371799 GRCh37 Chromosome X, 48542823: 48542823
16 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign rs58371799 GRCh38 Chromosome X, 48684434: 48684434
17 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign rs149123892 GRCh37 Chromosome X, 48546784: 48546784
18 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign rs149123892 GRCh38 Chromosome X, 48688395: 48688395
19 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 GRCh37 Chromosome X, 48542762: 48542762
20 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 GRCh38 Chromosome X, 48684373: 48684373
21 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh37 Chromosome X, 48546486: 48546486
22 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh38 Chromosome X, 48688097: 48688097
23 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh38 Chromosome X, 48683943: 48683943
24 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh37 Chromosome X, 48542332: 48542332
25 WAS NM_000377.2(WAS): c.413G> C (p.Arg138Pro) single nucleotide variant Pathogenic rs139265251 GRCh37 Chromosome X, 48544175: 48544175
26 WAS NM_000377.2(WAS): c.413G> C (p.Arg138Pro) single nucleotide variant Pathogenic rs139265251 GRCh38 Chromosome X, 48685786: 48685786
27 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 48542810: 48542810
28 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48684421: 48684421
29 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh38 Chromosome X, 48688419: 48688419
30 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh37 Chromosome X, 48546808: 48546808
31 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48683944: 48683944
32 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 48542333: 48542333
33 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48688713: 48688713
34 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48547102: 48547102
35 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign GRCh37 Chromosome X, 48544030: 48544030
36 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign GRCh38 Chromosome X, 48685641: 48685641

Expression for Thrombocytopenia 1

Search GEO for disease gene expression data for Thrombocytopenia 1.

Pathways for Thrombocytopenia 1

GO Terms for Thrombocytopenia 1

Cellular components related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor complex GO:0017053 9.16 GATA1 ZFPM1
2 protein-DNA complex GO:0032993 8.96 GATA1 HOXA11
3 transcription factor complex GO:0005667 8.8 GATA1 HOXA11 ZFPM1

Biological processes related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.54 GATA1 WAS ZFPM1
2 male gonad development GO:0008584 9.48 GATA1 HOXA11
3 regulation of megakaryocyte differentiation GO:0045652 9.46 GATA1 ZFPM1
4 erythrocyte differentiation GO:0030218 9.43 GATA1 ZFPM1
5 myeloid cell differentiation GO:0030099 9.4 GATA1 THPO
6 platelet formation GO:0030220 9.32 GATA1 ZFPM1
7 embryonic hemopoiesis GO:0035162 9.26 GATA1 ZFPM1
8 megakaryocyte differentiation GO:0030219 9.16 GATA1 ZFPM1
9 regulation of definitive erythrocyte differentiation GO:0010724 8.96 GATA1 ZFPM1
10 transcriptional activation by promoter-enhancer looping GO:0071733 8.62 GATA1 ZFPM1

Molecular functions related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001078 8.96 GATA1 ZFPM1
2 RNA polymerase II transcription factor binding GO:0001085 8.62 GATA1 ZFPM1

Sources for Thrombocytopenia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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