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

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) (Updated 08-Dec-2022)

MalaCards based summary: Fetal Hemoglobin Quantitative Trait Locus 1, also known as hereditary persistence of fetal hemoglobin, is related to hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome and hereditary persistence of fetal hemoglobin-sickle cell disease syndrome. An important gene associated with Fetal Hemoglobin Quantitative Trait Locus 1 is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Golgi-to-ER retrograde transport. The drug Chrysarobin has been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are microcytic anemia and abnormal hemoglobin

Disease Ontology: ¹¹ A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild.

Orphanet: ⁵⁸ Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.

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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 top 50) (show all 156)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	32.3	KLF1 HBG2 HBG1 HBB
2	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	31.8	KLF1 HBG2 HBG1 HBB BCL11A
3	neonatal anemia	30.7	KLF1 HBB
4	splenic sequestration	30.6	HBE1 HBB
5	hemoglobin se disease	30.6	LOC110006319 LOC107133510 LOC106099062 HBB
6	erythroleukemia	30.4	KLF1 HBG1 HBE1 HBB GATA1
7	glucosephosphate dehydrogenase deficiency	30.4	HBG2 HBE1 HBB HBA2 HBA1
8	thalassemia minor	30.3	HBG2 HBG1 HBE1 HBD HBB HBA2
9	sickle cell disease	30.2	LOC110006319 LOC107133510 LOC106099062 HBS1L HBG2 HBG1
10	hypochromic microcytic anemia	30.2	HBE1 HBB HBA2 HBA1
11	acute chest syndrome	30.2	HBB BCL11A
12	splenomegaly	30.2	HBB HBA2 HBA1
13	heinz body anemias	30.2	LOC110006319 LOC107133510 LOC106099062 HBQ1 HBB HBA2
14	histiocytosis-lymphadenopathy plus syndrome	30.1	HBQ1 HBE1 HBB HBA2 HBA1
15	thalassemia	30.1	SOX6 LOC110006319 LOC107133510 KLF1 HBS1L HBQ1
16	beta-thalassemia	30.1	LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L HBG2
17	hemoglobin h disease	30.0	HBQ1 HBE1 HBB HBA2 HBA1 BCL11A
18	beta-thalassemia intermedia	30.0	KLF1 HBS1L HBG2 HBG1 HBE1 HBB
19	hemoglobin c disease	29.6	OR52A1 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
20	hemolytic anemia	29.6	LOC107133510 LOC106099062 KLF1 HBS1L HBQ1 HBG2
21	malaria	29.6	LOC110006319 LOC107133510 LOC106099062 HBG2 HBE1 HBB
22	sickle cell anemia	29.5	LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
23	alpha-thalassemia	29.2	LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L HBQ1
24	hemoglobinopathy	29.1	ZBTB7A SOX6 LOC110006319 LOC107133510 LOC106099062 KLF1
25	deficiency anemia	29.1	LOC107133510 LOC106099062 KLF1 HBS1L HBG2 HBG1
26	beta-thalassemia major	28.7	SOX6 LOC110006319 LOC107133510 LOC106099062 KLF1 HBS1L
27	intellectual developmental disorder with persistence of fetal hemoglobin	11.7
28	sickle delta beta thalassemia	11.3
29	beta-thalassemia associated with another hemoglobin anomaly	11.3
30	fetal hemoglobin quantitative trait locus 5	11.0
31	fetal hemoglobin quantitative trait locus 2	11.0
32	fetal hemoglobin quantitative trait locus 3	11.0
33	fetal hemoglobin quantitative trait locus 6	10.8
34	hemoglobin lepore-beta-thalassemia syndrome	10.4	HBD HBB
35	cyanosis, transient neonatal	10.4	LOC106099065 HBG2
36	middle lobe syndrome	10.4	HBD HBB
37	sickle cell disease and related diseases	10.3	LOC107133510 LOC106099062 HBB
38	hemoglobin e-beta-thalassemia syndrome	10.3	LOC107133510 LOC106099062 HBB
39	ghosal hematodiaphyseal dysplasia	10.3	HBG2 HBG1
40	alpha-thalassemia myelodysplasia syndrome	10.3	HBG2 HBG1 GATA1
41	type 1 diabetes mellitus 24	10.3	HBA2 HBA1
42	thrombocytopenia with beta-thalassemia, x-linked	10.3	HBG2 GATA1
43	methemoglobinemia, beta type	10.3	LOC110006319 LOC107133510 LOC106099062 HBB
44	beta-thalassemia, dominant inclusion body type	10.3	LOC110006319 LOC107133510 LOC106099062 HBB
45	immune hydrops fetalis	10.3	HBA2 HBA1
46	type 1 diabetes mellitus 7	10.3	HBA2 HBA1
47	glutathione peroxidase deficiency	10.3	HBB HBA2 HBA1
48	immature cataract	10.3	HBA2 HBA1
49	autosomal dominant secondary polycythemia	10.3	HBB HBA2 HBA1
50	febrile seizures, familial, 6	10.2	HBB HBA2 HBA1

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

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

⁵⁸ ³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	microcytic anemia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001935
2	abnormal hemoglobin ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011902
3	anemia ⁵⁸		Very frequent (99-80%)
4	persistence of hemoglobin f ³⁰			HP:0011904

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Clinical features from OMIM®:

141749 (Updated 08-Dec-2022)

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

²⁵ (show all 21)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-104	9.72	HBG1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.72	HBA1 HBA2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.72	HBG1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.72	HBG1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	9.72	HBA1 HBA2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-148	9.72	HBE1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-153	9.72	HBG1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.72	HBG1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.72	HBE1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	9.72	HBE1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.72	HBE1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	9.72	HBA1 HBA2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.72	HBE1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	9.72	HBG1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-35	9.72	HBG1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.72	HBG1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	9.72	HBA1 HBA2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-55	9.72	HBG1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.72	HBG1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-72	9.72	HBG1
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.72	HBG1

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Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

Drugs for Fetal Hemoglobin Quantitative Trait Locus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Chrysarobin

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Influence of Fetal Haemoglobin on Cerebral and Peripheral Oxygenation in Term and Preterm Neonates During the First Two Weeks After Birth Measured by Near Infrared Spectroscopy- a Prospective Observational Pilot Study	Recruiting	NCT04802629

Search 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 ²⁸
2	Delta-Beta-Thalassemia ²⁸
3	Hereditary Persistence of Fetal Hemoglobin ²⁸	HBB HBG2

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Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

Organs/tissues related to Fetal Hemoglobin Quantitative Trait Locus 1:

MalaCards : Bone Marrow, Myeloid, Bone, Fetal Liver, Spleen, Kidney, Pancreas

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Publications for Fetal Hemoglobin Quantitative Trait Locus 1

Articles related to Fetal Hemoglobin Quantitative Trait Locus 1:

(show top 50) (show all 1151)

#	Title	Authors	PMID	Year
1	The Greek A gamma beta+-HPFH observed in a large black family. ⁶² ⁵⁷ ⁵	Huang HJ...Huisman TH	2441598	1987
2	The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene. ⁶² ⁵⁷ ⁵	Tate VE...Weatherall DJ	2430647	1986
3	Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter. ⁶² ⁵⁷ ⁵	Gelinas R...Stamatoyannopoulos G	2423160	1986
4	G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene. ⁶² ⁵⁷ ⁵	Collins FS...Weissman SM	6205403	1984
5	A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes. ⁶² ⁵⁷ ⁵	Weatherall DJ...Mackenzie A	811241	1975
6	A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression. ⁵⁷ ⁵	Chen D...Xu X	28669403	2017
7	Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin. ⁵⁷ ⁵	Kan YW...Kazazian HH	1186896	1975
8	A functional element necessary for fetal hemoglobin silencing. ⁶² ⁵⁷	Sankaran VG...Bender MA	21879898	2011
9	Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population. ⁶² ⁵	Gallienne AE...Henderson SJ	19958185	2009
10	Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster. ⁶² ⁵⁷	de Andrade TG...Costa FF	16952470	2006
11	DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up. ⁶² ⁵⁷	Bhardwaj U...McCabe ER	12640388	2003
12	A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin. ⁶² ⁵	Zertal-Zidani S...Krishnamoorthy R	10335983	1999
13	Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. ⁶² ⁵⁷	Thein SL...Craig JE	9859924	1998
14	Molecular basis of hereditary persistence of fetal hemoglobin. ⁶² ⁵⁷	Forget BG	9668525	1998
15	The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [A gamma-158C-->T] results from two independent gene conversion events. ⁶² ⁵	Patrinos GP...Papadakis MN	9703422	1998
16	The molecular basis of HPFH in a British family identified by heteroduplex formation. ⁶² ⁵	Craig JE...Thein SL	7687855	1993
17	Molecular characterisation of Vietnamese HPFH. ⁶² ⁵⁷	Motum PI...Trent RJ	7689901	1993
18	A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. ⁶² ⁵	Berry M...Dillon N	1379347	1992
19	Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia. ⁶² ⁵	Loudianos G...Pirastu M	1487421	1992
20	The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene. ⁶² ⁵	Oner R...Huisman TH	1704803	1991
21	A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. ⁶² ⁵	Fucharoen S...Fukumaki Y	1698280	1990
22	A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster. ⁶² ⁵⁷	Martinez G...Colombo B	2472351	1989
23	Nucleotide variations in the 3' A gamma enhancer region are linked to beta-gene cluster haplotypes and are unrelated to fetal hemoglobin expression. ⁶² ⁵⁷	Ragusa A...Krishnamoorthy R	2472742	1989
24	The homozygous state of G to A--117A gamma hereditary persistence of fetal hemoglobin. ⁶² ⁵	Camaschella C...Longinotti M	2469505	1989
25	The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene. ⁶² ⁵	Superti-Furga G...Busslinger M	3181130	1988
26	Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex. ⁶² ⁵⁷	Donald JA...Trent RJ	2458313	1988
27	A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia. ⁶² ⁵	Ottolenghi S...Saglio G	2452784	1988
28	Four base-pair DNA deletion in human A gamma globin-gene promoter associated with low A gamma expression in adults. ⁶² ⁵	Gilman JG...Mishima N	3377986	1988
29	Gamma gene promoter and enhancer structure in Seattle variant of hereditary persistence of fetal hemoglobin. ⁶² ⁵⁷	Gelinas RE...Stamatoyannopoulos G	2451548	1988
30	A fetal globin gene mutation in A gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell. ⁶² ⁵	Rixon MW...Gelinas RE	2451123	1988
31	One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian population. ⁶² ⁵⁷	Efremov GD...Huisman TH	2443439	1987
32	Point mutation associated with hereditary persistence of fetal hemoglobin decreases RNA polymerase III transcription upstream of the affected gamma-globin gene. ⁶² ⁵⁷	Carlson DP...Ross J	2431298	1986
33	Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks. ⁶² ⁵	Waber PG...Kazazian HH	2417646	1986
34	A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. ⁶² ⁵⁷	Collins FS...Forget BG	2578620	1985
35	G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin. ⁶² ⁵⁷	Gelinas R...Stamatoyannopoulos G	2578619	1985
36	Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population. ⁶² ⁵	Collins FS...Kazazian HH	6208955	1984
37	Increased HbF in sickle cell anemia is determined by a factor linked to the beta S gene from one parent. ⁶² ⁵⁷	Milner PF...Garver FA	6197115	1984
38	Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster. ⁶² ⁵⁷	Giampaolo A...Marinucci M	6201431	1984
39	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. ⁶² ⁵⁷	Tuan D...Forget BG	6196781	1983
40	Restriction endonuclease mapping of gamma-delta-beta-globin region in G gamma (beta)+ HPFH and a Chinese A gamma HPFH variant. ⁶² ⁵⁷	Farquhar M...Stamatoyannopoulos G	6192712	1983
41	A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster. ⁶² ⁵⁷	Gianni AM...Ottolenghi S	6196196	1983
42	Post-natal decline of fetal haemoglobin in homozygous sickle cell disease: relationship to parenteral Hb F levels. ⁶² ⁵⁷	Mason KP...Wood WG	6181802	1982
43	Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? ⁶² ⁵⁷	Ottolenghi S...Gianni AM	6179097	1982
44	A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin. ⁶² ⁵⁷	Jagadeeswaran P...Weissman SM	6174873	1982
45	The gamma-delta-beta-globin gene region in G gamma-beta +-hereditary persistence of fetal hemoglobin. ⁶² ⁵⁷	Balsley JF...Surrey S	6174163	1982
46	Greek (A gamma) variant of hereditary persistence of fetal haemoglobin: globin gene organization and studies of expression of fetal haemoglobins in clonal erythroid cultures. ⁶² ⁵⁷	Papayannopoulou T...Maniatis T	6175332	1982
47	Linkage analysis of nondeletion hereditary persistence of fetal hemoglobin. ⁶² ⁵⁷	Old JM...Weatherall DJ	6186021	1982
48	Genetic regulation of gamma gene expression: study of the interaction of beta-thalassemia with heterocellular HPFH. ⁶² ⁵⁷	Soummer AM...Rosa J	6169619	1981
49	beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population. ⁶² ⁵⁷	Marinucci M...Lanzo D	6162827	1981
50	Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. ⁶² ⁵⁷	Tuan D...Forget BG	6154897	1980

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Genes for Fetal Hemoglobin Quantitative Trait Locus 1

Genes/enhancers related to Fetal Hemoglobin Quantitative Trait Locus 1 (9 elite genes):

(show all 35)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HBB	Hemoglobin Subunit Beta	Protein Coding	1382.69	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	1186896 19958185 18932066
2	HBG1	Hemoglobin Subunit Gamma 1	Protein Coding	1257.3	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	811241 1379347 1487421 (more) 1698280 1704803 1990287 2224140 2276623 2417646 2423160 2430647 2441598 2451123 2452784 2469505 3033668 3181130 3377986 9703422 28669403 18932066
2	HBG1::GH11J005249	TSS distance: -1.3kb Elite enhancer with elite association with HBG1			Curated enhancer-disease association ²³ ( 27569544)	2423160
3	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	1007.32	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴	1698280 2441598 6205403 (more) 6208955 7687855 10335983 18443038
3	HBG2::GH11J005254	TSS distance: +249.8kb Elite enhancer with elite association with HBG2			Curated enhancer-disease association ²³ ( 27569544)	10335983
4	LOC106099062	HBB Recombination Region	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵
5	LOC107133510	Origin Of Replication At HBB	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵
6	LOC106099064	HBG1 Recombination Region	Functional Element	400	Pathogenic ⁵	811241 1379347 1487421 (more) 1698280 1704803 1990287 2224140 2276623 2417646 2423160 2430647 2441598 2451123 2452784 2469505 3033668 3181130 3377986 9703422 28669403
7	LOC106099065	HBG2 Recombination Region	Functional Element	400	Pathogenic ⁵	1698280 2441598 6205403 (more) 6208955 7687855 10335983
8	LOC110006319	Beta-Globin Gene 3' Regulatory Region	Functional Element	400	Pathogenic ⁵
9	HBD	Hemoglobin Subunit Delta	Protein Coding	357.15	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	1301204
10	HBE1	Hemoglobin Subunit Epsilon 1	Protein Coding	7.79	DISEASES inferred ¹⁴
11	BCL11A	BCL11 Transcription Factor A	Protein Coding	7.07	DISEASES inferred ¹⁴
12	HBQ1	Hemoglobin Subunit Theta 1	Protein Coding	6.5	DISEASES inferred ¹⁴
13	KLF1	KLF Transcription Factor 1	Protein Coding	6.39	DISEASES inferred ¹⁴
14	OR52A1	Olfactory Receptor Family 52 Subfamily A Member 1	Protein Coding	6.39	DISEASES inferred ¹⁴
15	SOX6	SRY-Box Transcription Factor 6	Protein Coding	6	DISEASES inferred ¹⁴
16	GATA1	GATA Binding Protein 1	Protein Coding	5.84	DISEASES inferred ¹⁴
17	ZBTB7A	Zinc Finger And BTB Domain Containing 7A	Protein Coding	5.71	DISEASES inferred ¹⁴
18	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	5.46	DISEASES inferred ¹⁴
19	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	5.45	DISEASES inferred ¹⁴
20	HBS1L	HBS1 Like Translational GTPase	Protein Coding	5.38	DISEASES inferred ¹⁴
21	OR51M1	Olfactory Receptor Family 51 Subfamily M Member 1	Protein Coding	5.28	DISEASES inferred ¹⁴
22	TSPYL1	TSPY Like 1	Protein Coding	5.13	DISEASES inferred ¹⁴
23	BRS3	Bombesin Receptor Subtype 3	Protein Coding	4.9	DISEASES inferred ¹⁴
24	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	4.84	DISEASES inferred ¹⁴
25	OR52A5	Olfactory Receptor Family 52 Subfamily A Member 5	Protein Coding	4.75	DISEASES inferred ¹⁴
26	NPRL3	NPR3 Like, GATOR1 Complex Subunit	Protein Coding	4.71	DISEASES inferred ¹⁴
27	FOXG1	Forkhead Box G1	Protein Coding	4.65	DISEASES inferred ¹⁴
28	LDB2	LIM Domain Binding 2	Protein Coding	4.62	DISEASES inferred ¹⁴
29	MIPEP	Mitochondrial Intermediate Peptidase	Protein Coding	4.59	DISEASES inferred ¹⁴
30	OR51V1	Olfactory Receptor Family 51 Subfamily V Member 1	Protein Coding	4.57	DISEASES inferred ¹⁴
31	BGLT3	Beta Globin Locus Transcript 3	RNA Gene	4.49	DISEASES inferred ¹⁴
32	LDB1	LIM Domain Binding 1	Protein Coding	4.47	DISEASES inferred ¹⁴
33	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	4.4	DISEASES inferred ¹⁴
34	ZHX2	Zinc Fingers And Homeoboxes 2	Protein Coding	4.37	DISEASES inferred ¹⁴
35	POLL	DNA Polymerase Lambda	Protein Coding	4.33	DISEASES inferred ¹⁴

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Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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

⁵ (show top 50) (show all 73)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LOC106099064, HBG1	NM_000559.3(HBG1):c.-29G>A	SNV	Pathogenic	1048099	rs368698783	GRCh37: 11:5271063-5271063 GRCh38: 11:5249833-5249833
2	LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.316-106C>G	SNV	Pathogenic	15457	rs34690599	GRCh37: 11:5247062-5247062 GRCh38: 11:5225832-5225832
3	LOC106099062, LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.315+1G>A	SNV	Pathogenic	15438	rs33945777	GRCh37: 11:5247806-5247806 GRCh38: 11:5226576-5226576
4	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.118C>T (p.Gln40Ter)	SNV	Pathogenic	15402	rs11549407	GRCh37: 11:5248004-5248004 GRCh38: 11:5226774-5226774
5	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.93-21G>A	SNV	Pathogenic Pathogenic	15454	rs35004220	GRCh37: 11:5248050-5248050 GRCh38: 11:5226820-5226820
6	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.92+6T>C	SNV	Pathogenic Uncertain Significance	15450	rs35724775	GRCh37: 11:5248154-5248154 GRCh38: 11:5226924-5226924
7	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.92+5G>C	SNV	Pathogenic	15447	rs33915217	GRCh37: 11:5248155-5248155 GRCh38: 11:5226925-5226925
8	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.92+1G>A	SNV	Pathogenic Pathogenic	15436	rs33971440	GRCh37: 11:5248159-5248159 GRCh38: 11:5226929-5226929
9	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.52A>T (p.Lys18Ter)	SNV	Pathogenic	15401	rs33986703	GRCh37: 11:5248200-5248200 GRCh38: 11:5226970-5226970
10	HBB, LOC106099062, LOC107133510	NM_000518.5(HBB):c.-79A>G	SNV	Pathogenic	15469	rs34598529	GRCh37: 11:5248330-5248330 GRCh38: 11:5227100-5227100
11	HBB, LOC106099062, LOC107133510	NM_000518.4(HBB):c.-137C>A	SNV	Pathogenic	36285	rs33941377	GRCh37: 11:5248388-5248388 GRCh38: 11:5227158-5227158
12	HBB	HBB, 106-KB DEL	INSERT	Pathogenic Pathogenic	29751		GRCh37: GRCh38:
13	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.126_129del (p.Phe42fs)	DEL	Pathogenic	15417	rs80356821	GRCh37: 11:5247993-5247996 GRCh38: 11:5226763-5226766
14	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	SNV	Pathogenic Pathogenic Likely Benign	15333	rs334	GRCh37: 11:5248232-5248232 GRCh38: 11:5227002-5227002
15	LOC106099062, HBB, LOC107133510	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	SNV	Pathogenic	15126	rs33930165	GRCh37: 11:5248233-5248233 GRCh38: 11:5227003-5227003
16	LOC110006319, HBB, LOC107133510	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	SNV	Pathogenic	15292	rs33946267	GRCh37: 11:5246908-5246908 GRCh38: 11:5225678-5225678
17	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	SNV	Pathogenic	15161	rs33950507	GRCh37: 11:5248173-5248173 GRCh38: 11:5226943-5226943
18	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	DEL	Pathogenic	15422	rs34889882	GRCh37: 11:5248234-5248235 GRCh38: 11:5227004-5227005
19	HBG2, LOC106099065	NM_000184.2(HBG2):c.-167C>T	SNV	Pathogenic	14990	rs34809449	GRCh37: 11:5276125-5276125 GRCh38: 11:5254895-5254895
20	HBG2, LOC106099065	NM_000184.2(HBG2):c.-167C>A	SNV	Pathogenic	15001	rs34809449	GRCh37: 11:5276125-5276125 GRCh38: 11:5254895-5254895
21	HBG1, LOC106099064	NM_000559.2(HBG1):c.-170G>A	SNV	Pathogenic	15030	rs35378915	GRCh37: 11:5271204-5271204 GRCh38: 11:5249974-5249974
22	HBG1, LOC106099064	NM_000559.2(HBG1):c.-53-198T>C	SNV	Pathogenic	15031	rs35710727	GRCh37: 11:5271285-5271285 GRCh38: 11:5250055-5250055
23	HBG1, LOC106099064	NM_000559.2(HBG1):c.-53-196C>T	SNV	Pathogenic	15033	rs35983258	GRCh37: 11:5271283-5271283 GRCh38: 11:5250053-5250053
24	HBG1, LOC106099064	NM_000559.2(HBG1):c.-53-195C>G	SNV	Pathogenic	15034	rs35321913	GRCh37: 11:5271282-5271282 GRCh38: 11:5250052-5250052
25	HBG1, LOC106099064	NM_000559.2(HBG1):c.-167C>T	SNV	Pathogenic	15035	rs281860601	GRCh37: 11:5271201-5271201 GRCh38: 11:5249971-5249971
26	HBG1, LOC106099064	NG_000007.3:g.47601C>T	SNV	Pathogenic	15040		GRCh37: 11:5271245-5271245 GRCh38: 11:5250015-5250015
27	HBG2	NG_000007.3:g.42268T>G	SNV	Pathogenic	29754		GRCh37: 11:5276578-5276578 GRCh38: 11:5255348-5255348
28	HBG2, LOC106099065	NM_000184.2(HBG2):c.-255C>G	SNV	Pathogenic	14982	rs35617911	GRCh37: 11:5276213-5276213 GRCh38: 11:5254983-5254983
29	HBG2, LOC106099065	NM_000184.2(HBG2):c.-228T>C	SNV	Pathogenic	14983	rs63750654	GRCh37: 11:5276186-5276186 GRCh38: 11:5254956-5254956
30	LOC106099062, HBB, LOC107133510	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	SNV	Likely Pathogenic Uncertain Significance Not Provided	15138	rs33947415	GRCh37: 11:5247914-5247914 GRCh38: 11:5226684-5226684
31	HBB, LOC106099062, LOC107133510	NM_000518.5(HBB):c.-138C>A	SNV	Likely Pathogenic	393701	rs33944208	GRCh37: 11:5248389-5248389 GRCh38: 11:5227159-5227159
32	LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.*59A>G	SNV	Uncertain Significance	878836	rs1345009528	GRCh37: 11:5246769-5246769 GRCh38: 11:5225539-5225539
33	LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.*18C>A	SNV	Uncertain Significance	879417	rs1348310843	GRCh37: 11:5246810-5246810 GRCh38: 11:5225580-5225580
34	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.85C>T (p.Leu29=)	SNV	Uncertain Significance	879840	rs33958088	GRCh37: 11:5248167-5248167 GRCh38: 11:5226937-5226937
35	LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.384G>C (p.Gln128His)	SNV	Uncertain Significance	1098525		GRCh37: 11:5246888-5246888 GRCh38: 11:5225658-5225658
36	LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.*53C>A	SNV	Uncertain Significance	305001	rs886048393	GRCh37: 11:5246775-5246775 GRCh38: 11:5225545-5225545
37	LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.*56A>T	SNV	Uncertain Significance	305000	rs537944366	GRCh37: 11:5246772-5246772 GRCh38: 11:5225542-5225542
38	HBD	NM_000519.4(HBD):c.*91G>A	SNV	Uncertain Significance	305002	rs886048394	GRCh37: 11:5254103-5254103 GRCh38: 11:5232873-5232873
39	LOC106099063, HBD	NM_000519.4(HBD):c.76G>A (p.Gly26Ser)	SNV	Uncertain Significance	305005	rs886048395	GRCh37: 11:5255588-5255588 GRCh38: 11:5234358-5234358
40	HBD	NM_000519.4(HBD):c.*59C>G	SNV	Uncertain Significance	305003	rs755421119	GRCh37: 11:5254135-5254135 GRCh38: 11:5232905-5232905
41	LOC106099063, HBD	NM_000519.4(HBD):c.225C>T (p.Gly75=)	SNV	Uncertain Significance	305004	rs113727122	GRCh37: 11:5255311-5255311 GRCh38: 11:5234081-5234081
42	HBD	NM_000519.4(HBD):c.*96G>T	SNV	Uncertain Significance	879524	rs1042760103	GRCh37: 11:5254098-5254098 GRCh38: 11:5232868-5232868
43	HBD	NM_000519.4(HBD):c.*65T>C	SNV	Uncertain Significance	879525	rs1847687778	GRCh37: 11:5254129-5254129 GRCh38: 11:5232899-5232899
44	LOC106099063, HBD	NM_000519.4(HBD):c.97C>T (p.Leu33=)	SNV	Uncertain Significance	879526	rs746437742	GRCh37: 11:5255439-5255439 GRCh38: 11:5234209-5234209
45	LOC106099063, HBD	NM_000519.4(HBD):c.83C>A (p.Ala28Asp)	SNV	Uncertain Significance	879527	rs751533248	GRCh37: 11:5255581-5255581 GRCh38: 11:5234351-5234351
46	LOC110006319, HBB, LOC107133510	NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	SNV	Uncertain Significance	15152	rs33946267	GRCh37: 11:5246908-5246908 GRCh38: 11:5225678-5225678
47	LOC110006319, HBB, LOC107133510	NM_000518.5(HBB):c.324C>T (p.Gly108=)	SNV	Uncertain Significance	36322	rs193922562	GRCh37: 11:5246948-5246948 GRCh38: 11:5225718-5225718
48	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.294C>T (p.His98=)	SNV	Uncertain Significance	439783	rs34515413	GRCh37: 11:5247828-5247828 GRCh38: 11:5226598-5226598
49	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.274C>T (p.Leu92=)	SNV	Uncertain Significance	439144	rs769583496	GRCh37: 11:5247848-5247848 GRCh38: 11:5226618-5226618
50	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.-31C>T	SNV	Uncertain Significance	36291	rs63750628	GRCh37: 11:5248282-5248282 GRCh38: 11:5227052-5227052

Sources

Expression for Fetal Hemoglobin Quantitative Trait Locus 1

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

Sources

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	12.8	HBG2 HBG1 HBE1 HBD HBB GATA1
2	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Factors involved in megakaryocyte development and platelet production ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶ MHC class II antigen presentation ⁶⁶	12.33	HBG2 HBG1 HBE1 HBD HBB GATA1
3	Circadian Clock ⁶⁶ Show member pathways BMAL1:CLOCK,NPAS2 activates circadian gene expression ⁶⁶ Circadian Clock in Mammals ⁶⁴ Heme signaling ⁶⁶ NR1D1 (REV-ERBA) represses gene expression ⁶⁶ RORA activates gene expression ⁶⁶	11.75	HBB HBA2 HBA1
4	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.29	HBB HBA2 HBA1
5	O2/CO2 exchange in erythrocytes ⁶⁶ Show member pathways Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) ⁶⁶ Erythrocytes take up carbon dioxide and release oxygen ⁶⁶ Erythrocytes take up oxygen and release carbon dioxide ⁶⁶	10.36	HBB HBA2 HBA1

Sources

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	9.93	HBG2 HBE1 HBD HBB HBA2 HBA1
2	hemoglobin complex	GO:0005833	9.86	HBA1 HBA2 HBB HBD HBE1 HBG1
3	endocytic vesicle lumen	GO:0071682	9.73	HBB HBA2 HBA1
4	haptoglobin-hemoglobin complex	GO:0031838	9.53	HBA1 HBA2 HBB HBD HBE1 HBG1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell death	GO:0010942	10.17	HBA1 HBA2 HBB HBD HBE1 HBG1
2	cellular oxidant detoxification	GO:0098869	10.16	HBQ1 HBG2 HBG1 HBE1 HBD HBB
3	carbon dioxide transport	GO:0015670	10	HBA1 HBA2 HBB HBD HBE1 HBG1
4	response to hydrogen peroxide	GO:0042542	9.88	HBB HBA2 HBA1
5	hydrogen peroxide catabolic process	GO:0042744	9.86	HBQ1 HBG2 HBG1 HBE1 HBD HBB
6	nitric oxide transport	GO:0030185	9.85	HBB HBA2 HBA1
7	oxygen transport	GO:0015671	9.53	HBQ1 HBG2 HBG1 HBE1 HBD HBB

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	10.43	ZBTB7A KLF1 HBQ1 HBG2 HBG1 HBE1
2	heme binding	GO:0020037	10.31	HBA1 HBA2 HBB HBD HBE1 HBG1
3	peroxidase activity	GO:0004601	10.22	HBA1 HBA2 HBB HBD HBE1 HBG1
4	oxygen binding	GO:0019825	10.16	HBA1 HBA2 HBB HBD HBE1 HBG1
5	hemoglobin alpha binding	GO:0031721	10.07	HBG2 HBG1 HBE1 HBD HBB
6	oxygen carrier activity	GO:0005344	10.06	HBA1 HBA2 HBB HBD HBE1 HBG1
7	haptoglobin binding	GO:0031720	9.86	HBA1 HBA2 HBB HBD HBE1 HBG1
8	organic acid binding	GO:0043177	9.53	HBA1 HBA2 HBB HBD HBE1 HBG1

Sources

Sources for Fetal Hemoglobin Quantitative Trait Locus 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HBFQTL1 MCID: FTL033 MIFTS: 52	Fetal Hemoglobin Quantitative Trait Locus 1 (HBFQTL1) Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Fetal Hemoglobin Quantitative Trait Locus 1 (HBFQTL1)

Aliases & Classifications for Fetal Hemoglobin Quantitative Trait Locus 1

MalaCards integrated aliases for Fetal Hemoglobin Quantitative Trait Locus 1:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Fetal Hemoglobin Quantitative Trait Locus 1

Related Diseases for Fetal Hemoglobin Quantitative Trait Locus 1

Diseases in the Fetal Hemoglobin Quantitative Trait Locus 1 family:

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

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

Symptoms & Phenotypes for Fetal Hemoglobin Quantitative Trait Locus 1

Human phenotypes related to Fetal Hemoglobin Quantitative Trait Locus 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics for Fetal Hemoglobin Quantitative Trait Locus 1

Drugs for Fetal Hemoglobin Quantitative Trait Locus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Fetal Hemoglobin Quantitative Trait Locus 1

Genetic tests related to Fetal Hemoglobin Quantitative Trait Locus 1:

Anatomical Context for Fetal Hemoglobin Quantitative Trait Locus 1

Organs/tissues related to Fetal Hemoglobin Quantitative Trait Locus 1:

Publications for Fetal Hemoglobin Quantitative Trait Locus 1

Articles related to Fetal Hemoglobin Quantitative Trait Locus 1:

Genes for Fetal Hemoglobin Quantitative Trait Locus 1

Genes/enhancers related to Fetal Hemoglobin Quantitative Trait Locus 1 (9 elite genes):

Variations for Fetal Hemoglobin Quantitative Trait Locus 1

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

Expression for Fetal Hemoglobin Quantitative Trait Locus 1

Pathways for Fetal Hemoglobin Quantitative Trait Locus 1

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

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:

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

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

Sources for Fetal Hemoglobin Quantitative Trait Locus 1