Fetal Hemoglobin Quantitative Trait Locus 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FTL033 MIFTS: 36	Fetal Hemoglobin Quantitative Trait Locus 1 Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases, Fetal diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 1:

Name: Fetal Hemoglobin Quantitative Trait Locus 1 ⁵⁷ ²⁹ ⁶

Delta-Beta Thalassemia ⁵⁷ ¹³ ⁶ ⁷³

Hereditary Persistence of Fetal Hemoglobin, Hb Gene Cluster-Related ⁵⁷

Hereditary Persistence of Fetal Hemoglobin Thalassemia ⁷³

Hemoglobin F, Hereditary Persistence of; Hpfh ⁵⁷

Hemoglobin, Fetal, Quantitative Trait Locus 1 ⁴⁰

Hereditary Persistence of Fetal Hemoglobin ⁵⁷

Hemoglobin F, Hereditary Persistence of ⁵⁷

Delta-Beta-Thalassemia ⁵⁹

Delta/beta Thalassemia ⁶

Hbfqtl1 ⁵⁷

Hpfh ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁹

delta-beta-thalassemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

fetal hemoglobin quantitative trait locus 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Immune diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

Thalassaemia

Delta-beta thalassaemia

Hereditary persistence of fetal haemoglobin [HPFH]

Orphanet: ⁵⁹

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 141749

Orphanet ⁵⁹ ORPHA231237

UMLS via Orphanet ⁷⁴ C0271985

ICD10 via Orphanet ³⁴ D56.2

MedGen ⁴² C1841621

ICD10 ³³ D56.2 D56.4

SNOMED-CT via HPO ⁶⁹ 263681008 234349007

UMLS ⁷³ C0271994 C0271985

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Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

OMIM : ⁵⁷ Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which encode the gamma isoforms of HbF, is normally suppressed shortly before birth and replaced by expression of the beta- (HBB; 141900) or delta- (HBD; 142000) chains, which form adult hemoglobin. Adults normally have less than 1% HbF, whereas heterozygotes for HPFH have 5 to 30% HbF. HPFH heterozygotes have essentially normal red cell indices and a rather homogeneous distribution of HbF among red cells, termed 'pancellular.' Homozygotes for HPFH can express HbF in up to 100% of red blood cells (Thein and Craig, 1998). Delta-beta thalassemia is a hemoglobin disorder characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis from the affected chromosome. Individuals with delta-beta thalassemia have hypochromic, microcytic anemia and increased HbF, which may mitigate the anemia depending on the level of HbF. Delta-beta thalassemia and some forms of HPFH result from deletions within the beta-globin gene cluster on chromosome 11p15; this has been referred to as 'deletional' HPFH. HPFH can also result from point mutations in the promoter regions of the gamma globulin genes HBG1 and HBG2; this has been referred to as 'non-deletional' HPFH (Ottolenghi et al., 1982; Forget, 1998). Forget (1998) noted that HPFH and delta-beta thalassemia are not clearly distinct disorders, but rather show partially overlapping features that may defy classification. Higher expression of HbF is often termed 'pancellular,' whereas lower expression of HbF is often termed 'heterocellular,' although these represent a spectrum. Approximately 10% of the population has HPFH manifest as modest elevations of HbF (1 to 4%) present in a subset of red cells (about 4.5%) termed F cells. This is also sometimes referred to as 'heterocellular' HPFH, and is considered to be a multifactorial trait influenced by multiple genetic loci (Thein and Craig, 1998). (141749)

MalaCards based summary : Fetal Hemoglobin Quantitative Trait Locus 1, also known as delta-beta thalassemia, is related to hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome and beta-thalassemia. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBG1 (Hemoglobin Subunit Gamma 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Glucose / Energy Metabolism. Related phenotypes are microcytic anemia and abnormal hemoglobin

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Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

Diseases in the Fetal Hemoglobin Quantitative Trait Locus 1 family:

Fetal Hemoglobin Quantitative Trait Locus 5	Fetal Hemoglobin Quantitative Trait Locus 2
Fetal Hemoglobin Quantitative Trait Locus 3	Fetal Hemoglobin Quantitative Trait Locus 4
Fetal Hemoglobin Quantitative Trait Locus 6

Diseases related to Fetal Hemoglobin Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	30.4	HBB HBG1 HBG2
2	beta-thalassemia	30.3	HBB HBD HBG1 HBG2
3	thalassemia	29.4	HBB HBD HBG1
4	sickle cell anemia	28.3	HBB HBG1 HBG2
5	sickle delta beta thalassemia	12.3
6	fetal hemoglobin quantitative trait locus 5	10.9
7	fetal hemoglobin quantitative trait locus 2	10.9
8	fetal hemoglobin quantitative trait locus 6	10.3
9	neonatal anemia	10.0
10	placenta disease	9.9
11	hemoglobin lepore-beta-thalassemia syndrome	9.8	HBB HBD
12	hemoglobin d disease	9.7	HBB HBD
13	malignant secondary hypertension	9.7	HBB HBD
14	hemoglobin e disease	9.7	HBB HBD
15	hemoglobin c disease	9.6	HBB HBD
16	osgood-schlatter's disease	9.6	HBB HBD
17	kluver-bucy syndrome	9.6	HBB HBD
18	glucosephosphate dehydrogenase deficiency	9.6	HBB HBG2
19	malignant essential hypertension	9.6	HBB HBD
20	pleuropneumonia	9.5	HBB HBD
21	hemoglobin h disease	9.4	HBB HBD
22	acute erythroid leukemia	9.4	HBB HBG1
23	hereditary spherocytosis	9.2	HBB HBG1
24	deficiency anemia	9.2	HBB HBG2
25	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	9.0	HBB HBG1 HBG2
26	hemoglobinopathy	9.0	HBB HBD HBG1
27	congenital hemolytic anemia	9.0	HBB HBD HBG1
28	hemolytic anemia	9.0	HBB HBG2
29	autosomal genetic disease	9.0	HBB HBD HBG1
30	alpha-thalassemia	9.0	HBB HBG1 HBG2
31	sickle cell disease	8.4	HBB HBD HBG1 HBG2

Graphical network of the top 20 diseases related to Fetal Hemoglobin Quantitative Trait Locus 1:

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Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Hematology:
persistence of fetal hemoglobin (5-30% hbf)

Clinical features from OMIM:

141749

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

⁵⁹ ³²

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	microcytic anemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001935
2	abnormal hemoglobin ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011902
3	anemia ⁵⁹		Very frequent (99-80%)
4	persistence of hemoglobin f ³²			HP:0011904

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Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Fetal Hemoglobin Quantitative Trait Locus 1

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Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 1:

#	Genetic test	Affiliating Genes
1	Fetal Hemoglobin Quantitative Trait Locus 1 ²⁹	HBB HBG1 HBG2

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Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

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Publications for Fetal Hemoglobin Quantitative Trait Locus 1

Articles related to Fetal Hemoglobin Quantitative Trait Locus 1:

(show all 29)

#	Title	Authors	Year
1	Epsilon gamma delta beta thalassemia: A rare cause of fetal and neonatal anemia. ( 29162270 )	MuA+oz Tormo-Figueres A.8....Guibert Zafra B.	2017
2	Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F. ( 27134860 )	Kumar B.V....Samuel P.	2016
3	Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing. ( 25488195 )	Zebisch A....Iolascon A.	2015
4	Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report. ( 25386442 )	Khunger J.M....Pandey H.R.	2014
5	Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin. ( 24575268 )	Verma S....Gupta R.	2013
6	A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia. ( 23206178 )	Shalev H....Tamary H.	2013
7	A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient. ( 17712794 )	Furuya C....Horibe K.	2008
8	Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population. ( 18932066 )	Nadkarni A....Mohanty D.	2008
9	A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient. ( 8701697 )	Abels J....HUISMAN T.H.	1996
10	Association of Hb S/Hb lepore and delta beta-thalassemia/Hb lepore in Sicilian patients: review of the presence of Hb lepore in Sicily. ( 7543057 )	Mirabile E....SchilirA^ G.	1995
11	Delta beta-thalassemia in an African-American: identification of the deletion endpoints and PCR-based diagnosis. ( 7713743 )	Waye J.S....Alter B.P.	1994
12	Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. ( 7510147 )	Craig J.E....Thein S.L.	1994
13	The in vivo expression of the globin genes of the beta cistron in gamma-, delta-, and delta beta-thalassemia heterozygotes. ( 8125176 )	Dimovski A.J....HUISMAN T.H.	1994
14	Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction. ( 8427978 )	Craig J.E....Thein S.L.	1993
15	Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. ( 1487421 )	Loudianos G....Pirastu M.	1992
16	Delta beta thalassemia and hereditary persistence of fetal hemoglobin. ( 1713909 )	Bollekens J.A....Forget B.G.	1991
17	Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level. ( 1688506 )	Loudianos G....Kattamis C.	1990
18	Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome. ( 1691668 )	Galanello R....Piga A.	1990
19	Beta-, delta beta-thalassemia and Hb lepore among Yugoslav, Bulgarian, Turkish and Albanian. ( 2086380 )	Efremov G.D.	1990
20	Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites. ( 2798417 )	Driscoll M.C....Alter B.P.	1989
21	The inactive beta globin gene on a gamma delta beta thalassemia chromosome has a normal structure and functions normally in vitro. ( 3345345 )	Curtin P.T....Kan Y.W.	1988
22	Molecular analysis of Japanese delta beta-thalassemia. ( 3179447 )	Shiokawa S....Fukumaki Y.	1988
23	A novel basis for delta beta-thalassemia in a Chinese family. ( 2876738 )	Atweh G.F....Forget B.G.	1986
24	A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. ( 2997283 )	Curtin P....Lehmann H.	1985
25	Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia. ( 6629826 )	Juricic D....Huisman T.H.J.	1983
26	Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. ( 6196781 )	Tuan D....Forget B.G.	1983
27	Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? ( 6179097 )	Ottolenghi S....Gianni A.M.	1982
28	Gene deletion in hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia. ( 6172870 )	Mears J.G.	1980
29	The synthesis of fetal hemoglobin types in red blood cells and in BFU-E derived colonies from peripheral blood of patients with sickle cell anemia, beta+ - and delta beta-thalassemia, various forms of hereditary persistence of fetal hemoglobin, normal adults and newborn. ( 500369 )	HUISMAN T.H....Wilson J.B.	1979

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Genes for Fetal Hemoglobin Quantitative Trait Locus 1

Genes related to Fetal Hemoglobin Quantitative Trait Locus 1 (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HBG1	Hemoglobin Subunit Gamma 1	Protein Coding	1369.13	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	9703422 2417646 2441598 (more) 3181130 1379347 1990287 2276623 2451123 2452784 2469505 2423160 2430647 811241 1487421 3033668 2224140 3377986 1698280 1704803
2	HBB	Hemoglobin Subunit Beta	Protein Coding	1369.02	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	1186896 19958185
3	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	1019.02	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	18443038 6205403 6208955 (more) 2420748 7687855 21057501 2432426 11822023 18667698 10335983 1698280
4	HBD	Hemoglobin Subunit Delta	Protein Coding	369.3	Causative germline mutation ⁵⁹ GeneCards inferred via : Variants (show sections)

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Variations for Fetal Hemoglobin Quantitative Trait Locus 1

ClinVar genetic disease variations for Fetal Hemoglobin Quantitative Trait Locus 1:

⁶

(show all 43)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HBG2	NM_000184.2(HBG2): c.-255C> G	single nucleotide variant	Pathogenic	rs35617911	GRCh37	Chromosome 11, 5276213: 5276213
2	HBG2	NM_000184.2(HBG2): c.-255C> G	single nucleotide variant	Pathogenic	rs35617911	GRCh38	Chromosome 11, 5254983: 5254983
3	HBG2	NM_000184.2(HBG2): c.-228T> C	single nucleotide variant	Pathogenic	rs63750654	GRCh37	Chromosome 11, 5276186: 5276186
4	HBG2	NM_000184.2(HBG2): c.-228T> C	single nucleotide variant	Pathogenic	rs63750654	GRCh38	Chromosome 11, 5254956: 5254956
5	HBG2	NM_000184.2(HBG2): c.-167C> T	single nucleotide variant	Pathogenic	rs34809449	GRCh37	Chromosome 11, 5276125: 5276125
6	HBG2	NM_000184.2(HBG2): c.-167C> T	single nucleotide variant	Pathogenic	rs34809449	GRCh38	Chromosome 11, 5254895: 5254895
7	HBG2	NM_000184.2(HBG2): c.-167C> A	single nucleotide variant	Pathogenic	rs34809449	GRCh37	Chromosome 11, 5276125: 5276125
8	HBG2	NM_000184.2(HBG2): c.-167C> A	single nucleotide variant	Pathogenic	rs34809449	GRCh38	Chromosome 11, 5254895: 5254895
9	HBG1	NM_000559.2(HBG1): c.-170G> A	single nucleotide variant	Pathogenic	rs35378915	GRCh37	Chromosome 11, 5271204: 5271204
10	HBG1	NM_000559.2(HBG1): c.-170G> A	single nucleotide variant	Pathogenic	rs35378915	GRCh38	Chromosome 11, 5249974: 5249974
11	HBG1	NM_000559.2(HBG1): c.-251T> C	single nucleotide variant	Pathogenic	rs35710727	GRCh37	Chromosome 11, 5271285: 5271285
12	HBG1	NM_000559.2(HBG1): c.-251T> C	single nucleotide variant	Pathogenic	rs35710727	GRCh38	Chromosome 11, 5250055: 5250055
13	HBG1	NM_000559.2(HBG1): c.-53-196C> T	single nucleotide variant	Pathogenic	rs35983258	GRCh37	Chromosome 11, 5271283: 5271283
14	HBG1	NM_000559.2(HBG1): c.-53-196C> T	single nucleotide variant	Pathogenic	rs35983258	GRCh38	Chromosome 11, 5250053: 5250053
15	HBG1	NM_000559.2(HBG1): c.-53-195C> G	single nucleotide variant	Pathogenic	rs35321913	GRCh37	Chromosome 11, 5271282: 5271282
16	HBG1	NM_000559.2(HBG1): c.-53-195C> G	single nucleotide variant	Pathogenic	rs35321913	GRCh38	Chromosome 11, 5250052: 5250052
17	HBG1	NM_000559.2(HBG1): c.-167C> T	single nucleotide variant	Pathogenic	rs281860601	GRCh37	Chromosome 11, 5271201: 5271201
18	HBG1	NM_000559.2(HBG1): c.-167C> T	single nucleotide variant	Pathogenic	rs281860601	GRCh38	Chromosome 11, 5249971: 5249971
19	HBG1	HBG1, C-T, -158	single nucleotide variant	Pathogenic
20	HBB	NM_000518.4(HBB): c.20A> T (p.Glu7Val)	single nucleotide variant	Pathogenic	rs334	GRCh37	Chromosome 11, 5248232: 5248232
21	HBB	NM_000518.4(HBB): c.20A> T (p.Glu7Val)	single nucleotide variant	Pathogenic	rs334	GRCh38	Chromosome 11, 5227002: 5227002
22	HBB	HBB, 106-KB DEL	deletion	Pathogenic
23	HBG2	HBG2, T-G, -567	single nucleotide variant	Pathogenic
24	HBB	NM_000518.4(HBB): c.9T> C (p.His3=)	single nucleotide variant	Benign	rs713040	GRCh37	Chromosome 11, 5248243: 5248243
25	HBB	NM_000518.4(HBB): c.9T> C (p.His3=)	single nucleotide variant	Benign	rs713040	GRCh38	Chromosome 11, 5227013: 5227013
26	HBD	NM_000519.3(HBD): c.76G> A (p.Gly26Ser)	single nucleotide variant	Uncertain significance	rs886048395	GRCh37	Chromosome 11, 5255588: 5255588
27	HBD	NM_000519.3(HBD): c.76G> A (p.Gly26Ser)	single nucleotide variant	Uncertain significance	rs886048395	GRCh38	Chromosome 11, 5234358: 5234358
28	HBD	NM_000519.3(HBD): c.-180A> G	single nucleotide variant	Uncertain significance	rs186432678	GRCh37	Chromosome 11, 5255843: 5255843
29	HBD	NM_000519.3(HBD): c.-180A> G	single nucleotide variant	Uncertain significance	rs186432678	GRCh38	Chromosome 11, 5234613: 5234613
30	HBD	NM_000519.3(HBD): c.225C> T (p.Gly75=)	single nucleotide variant	Uncertain significance	rs113727122	GRCh37	Chromosome 11, 5255311: 5255311
31	HBD	NM_000519.3(HBD): c.225C> T (p.Gly75=)	single nucleotide variant	Uncertain significance	rs113727122	GRCh38	Chromosome 11, 5234081: 5234081
32	HBB	NM_000518.4(HBB): c.*56A> T	single nucleotide variant	Uncertain significance	rs537944366	GRCh37	Chromosome 11, 5246772: 5246772
33	HBB	NM_000518.4(HBB): c.*56A> T	single nucleotide variant	Uncertain significance	rs537944366	GRCh38	Chromosome 11, 5225542: 5225542
34	HBD	NM_000519.3(HBD): c.*59C> G	single nucleotide variant	Uncertain significance	rs755421119	GRCh37	Chromosome 11, 5254135: 5254135
35	HBD	NM_000519.3(HBD): c.*59C> G	single nucleotide variant	Uncertain significance	rs755421119	GRCh38	Chromosome 11, 5232905: 5232905
36	HBD	NM_000519.3(HBD): c.-60A> T	single nucleotide variant	Uncertain significance	rs112372029	GRCh37	Chromosome 11, 5255723: 5255723
37	HBD	NM_000519.3(HBD): c.-60A> T	single nucleotide variant	Uncertain significance	rs112372029	GRCh38	Chromosome 11, 5234493: 5234493
38	HBB	NM_000518.4(HBB): c.*53C> A	single nucleotide variant	Uncertain significance	rs886048393	GRCh37	Chromosome 11, 5246775: 5246775
39	HBB	NM_000518.4(HBB): c.*53C> A	single nucleotide variant	Uncertain significance	rs886048393	GRCh38	Chromosome 11, 5225545: 5225545
40	HBD	NM_000519.3(HBD): c.*91G> A	single nucleotide variant	Uncertain significance	rs886048394	GRCh37	Chromosome 11, 5254103: 5254103
41	HBD	NM_000519.3(HBD): c.*91G> A	single nucleotide variant	Uncertain significance	rs886048394	GRCh38	Chromosome 11, 5232873: 5232873
42	HBD	NM_000519.3(HBD): c.-62C> T	single nucleotide variant	Uncertain significance	rs144322869	GRCh37	Chromosome 11, 5255725: 5255725
43	HBD	NM_000519.3(HBD): c.-62C> T	single nucleotide variant	Uncertain significance	rs144322869	GRCh38	Chromosome 11, 5234495: 5234495

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Expression for Fetal Hemoglobin Quantitative Trait Locus 1

Search GEO for disease gene expression data for Fetal Hemoglobin Quantitative Trait Locus 1.

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Pathways for Fetal Hemoglobin Quantitative Trait Locus 1

Pathways related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.33	HBB HBD HBG1 HBG2
2	Glucose / Energy Metabolism ⁴	11.65	HBB HBG1
3	Factors involved in megakaryocyte development and platelet production ⁶⁶	11.12	HBB HBD HBG1 HBG2

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GO Terms for Fetal Hemoglobin Quantitative Trait Locus 1

Cellular components related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	blood microparticle	GO:0072562	9.13	HBB HBD HBG2
2	hemoglobin complex	GO:0005833	8.92	HBB HBD HBG1 HBG2

Biological processes related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	blood coagulation	GO:0007596	9.26	HBB HBD HBG1 HBG2
2	oxygen transport	GO:0015671	8.92	HBB HBD HBG1 HBG2

Molecular functions related to Fetal Hemoglobin Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	metal ion binding	GO:0046872	9.62	HBB HBD HBG1 HBG2
2	iron ion binding	GO:0005506	9.56	HBB HBD HBG1 HBG2
3	heme binding	GO:0020037	9.46	HBB HBD HBG1 HBG2
4	oxygen binding	GO:0019825	9.26	HBB HBD HBG1 HBG2
5	oxygen carrier activity	GO:0005344	8.92	HBB HBD HBG1 HBG2

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Sources for Fetal Hemoglobin Quantitative Trait Locus 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia