ECYT6
MCID: ERY064
MIFTS: 30

Erythrocytosis, Familial, 6 (ECYT6)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Erythrocytosis, Familial, 6

MalaCards integrated aliases for Erythrocytosis, Familial, 6:

Name: Erythrocytosis, Familial, 6 57
Erythrocytosis 6, Familial 29 6
Ecyt6 57 12
Erythrocytosis, Beta-Globin Type 57
Beta-Globin Type Erythrocytosis 12
Polycythemia, Beta-Globin Type 57
Beta-Globin Type Polycythemia 12
Familial Erythrocytosis 6 12
Erythrocytosis 6 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
high oxygen affinity of hemoglobin


Classifications:



External Ids:

Disease Ontology 12 DOID:0111632
OMIM® 57 617980
OMIM Phenotypic Series 57 PS133100
MedGen 41 C4693822

Summaries for Erythrocytosis, Familial, 6

OMIM® : 57 Familial erythrocytosis-6 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant (see 617981) is usually milder than that caused by a beta chain variant. (617980) (Updated 20-May-2021)

MalaCards based summary : Erythrocytosis, Familial, 6, also known as erythrocytosis 6, familial, is related to methemoglobinemia and hemoglobin d disease. An important gene associated with Erythrocytosis, Familial, 6 is HBB (Hemoglobin Subunit Beta).

Disease Ontology : 12 A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has material basis in heterozygous mutation in HBB on chromosome 11p15.4.

Related Diseases for Erythrocytosis, Familial, 6

Diseases in the Erythrocytosis, Familial, 2 family:

Erythrocytosis, Familial, 1 Erythrocytosis, Familial, 8
Erythrocytosis, Familial, 3 Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 5 Erythrocytosis, Familial, 6
Erythrocytosis, Familial, 7

Diseases related to Erythrocytosis, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia 9.5 LOC107133510 LOC106099062 HBB
2 hemoglobin d disease 9.5 LOC110006319 LOC107133510 HBB
3 hemoglobin e-beta-thalassemia syndrome 9.5 LOC107133510 LOC106099062 HBB
4 sickle cell disease and related diseases 9.5 LOC107133510 LOC106099062 HBB
5 hemoglobin zurich 9.5 LOC107133510 LOC106099062 HBB
6 thalassemia minor 9.4 LOC107133510 LOC106099062 HBB
7 splenic infarction 9.4 LOC107133510 LOC106099062 HBB
8 hemoglobin c disease 9.4 LOC107133510 LOC106099062 HBB
9 hemoglobin e disease 9.3 LOC107133510 LOC106099062 HBB
10 hemolytic anemia 9.2 LOC107133510 LOC106099062 HBB
11 beta-thalassemia 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
12 beta-thalassemia intermedia 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
13 thalassemia 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
14 methemoglobinemia, beta type 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
15 methemoglobinemia, beta-globin type 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
16 beta-thalassemia, dominant inclusion body type 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
17 beta-thalassemia major 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
18 fetal hemoglobin quantitative trait locus 1 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
19 sickle cell disease 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
20 heinz body anemias 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
21 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
22 hemoglobinopathy 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
23 deficiency anemia 9.1 LOC107133510 LOC106099062 HBB
24 sickle cell anemia 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
25 alpha-thalassemia 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
26 hemoglobin se disease 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
27 malaria 9.0 LOC110006319 LOC107133510 LOC106099062 HBB

Graphical network of the top 20 diseases related to Erythrocytosis, Familial, 6:



Diseases related to Erythrocytosis, Familial, 6

Symptoms & Phenotypes for Erythrocytosis, Familial, 6

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
increased hematocrit
increased red blood cell count
increased hemoglobin
erythrocytosis

Laboratory Abnormalities:
abnormal hemoglobin isoelectrofocusing (ief) gel electrophoresis
left-shifted hemoglobin-o2 affinity assay plot
low p50

Clinical features from OMIM®:

617980 (Updated 20-May-2021)

Drugs & Therapeutics for Erythrocytosis, Familial, 6

Search Clinical Trials , NIH Clinical Center for Erythrocytosis, Familial, 6

Genetic Tests for Erythrocytosis, Familial, 6

Genetic tests related to Erythrocytosis, Familial, 6:

# Genetic test Affiliating Genes
1 Erythrocytosis 6, Familial 29 HBB

Anatomical Context for Erythrocytosis, Familial, 6

Publications for Erythrocytosis, Familial, 6

Articles related to Erythrocytosis, Familial, 6:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Hemoglobin Rainier (beta145 Tyrosine rarr Histidine): Alkali-Resistant Hemoglobin with Increased Oxygen Affinity. 57 6
17795074 1968
2
Haemoglobinopathies with high oxygen affinity. Experience of Erythropathology Cooperative Spanish Group. 57
18818920 2009
3
Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. 57
15921161 2005
4
Congenital and inherited polycythemia. 57
10676771 2000
5
Hb Rainier [beta145(HC2)Tyr-->Cys] in Italy. Characterization of the amino acid substitution and the DNA mutation. 6
10335979 1999
6
Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification. 6
9101280 1997
7
Compound heterozygosity for two beta chain variants: Hb S [beta 6(A3)Glu-->Val] and the high affinity variant Hb San Diego [beta 109(G11)Val-->Met]. 6
7615400 1995
8
Haemoglobin Köln as de novo mutations in Sweden: diagnosis by PCR and specific enzymatic cleavage. 6
8168595 1994
9
Hb Coimbra or alpha 2 beta (2)99(G1)Asp----Glu, a newly discovered highoxygen affinity variant. 57
1814856 1991
10
Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity. 57
2363414 1990
11
Hb N-Baltimore or beta 95(Fg2)Lys----Glu in Portugal. 6
2703368 1989
12
Hemoglobin Brockton [beta 138 (H16) Ala----Pro]: an unstable variant near the C-terminus of the beta-subunits with normal oxygen-binding properties. 6
3207692 1988
13
Hemoglobin Pasadena: identification of the gene mutant by DNA analysis using synthetic DNA probes. 6
3348204 1988
14
Hb Linköping (beta 36 Pro----Thr): a new high oxygen affinity hemoglobin variant found in two families of Finnish origin. 6
3691763 1987
15
Hb I-High Wycombe [beta 59(E3)Lys----Glu] in a woman of Malian origin. 6
3114176 1987
16
A new case of Hb Little Rock [beta 143(H21)His----Gln], a high affinity variant. Study during pregnancy. 6
3623972 1987
17
Hemoglobin Rahere, a human hemoglobin variant with amino acid substitution at the 2,3-diphosphoglycerate binding site. Functional consequences of the alteration and effects of bezafibrate on the oxygen bindings. 6
3930571 1985
18
A mouse beta-globin mutant that is an exact model of hemoglobin Rainier in man. 6
3839762 1985
19
A new case of hemoglobin Providence (alpha 2 beta 2 82 (EF6) Lys----Asn or Asp) discovered in a French Caucasian family. Structural and functional studies. 6
3935609 1985
20
Iron overload in three generations of a family with hemoglobin Olympia. 6
6745619 1984
21
Structure of deoxyhemoglobin Cowtown [His HC3(146) beta----Leu]: origin of the alkaline Bohr effect and electrostatic interactions in hemoglobin. 6
6589624 1984
22
[Erythrocytosis due to a high-affinity hemoglobulin: mutant hemoglobin Saint-Jacques beta 140 (H18) Ala----Thr with a change in the 2,3-diphosphoglycerate binding site]. 6
6546989 1984
23
Asymmetric hybrids formed with hemoglobin British Columbia (alpha 2 beta 2101Glu----Lys). 6
6500987 1984
24
Hb Brisbane (beta 68 (E12) Leu replaced by His) is unstable. 6
6629830 1983
25
Characterization and properties of Hb York (beta 146 His leads to Pro). 6
6874372 1983
26
Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy. 6
7158624 1982
27
Structural and functional studies of hemoglobin Barcelona (alpha 2 beta 2 94 Asp (FG1) replaced by His). Consequences of altering an important intrachain salt bridge involved in the alkaline Bohr effect. 6
7097767 1982
28
Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia. 6
7161106 1982
29
Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant. 6
6166590 1981
30
Hemoglobin Hotel-Dieu beta 99 Asp replaced by Gly (g1). A new abnormal hemoglobin with high oxygen affinity. 6
7204092 1981
31
Novel studies on a "silent" high affinity mutant hemoglobin (San Diego, beta 109 Val replaced by Met). 6
7204093 1981
32
Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis. 6
7417488 1980
33
Human llamas: adaptation to altitude in subjects with high hemoglobin oxygen affinity. 6
29054 1978
34
Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory erythrocytosis. 6
678476 1978
35
Hemoglobin Creteil: oxygen transport by erythrocytes. In-vitro and in-vivo studies in a high oxygen-affinity mutant hemoglobin. 6
27132 1978
36
Hemoglobin Ty GARD (alphaA2beta2 124 (H2) Pro replaced by Gln). A stable high O2 affinity variant at the alpha1beta1 contact. 6
639985 1978
37
Hb Potomac (101 Glu replaced by Asp): speculations on placental oxygen transport in carriers of high-affinity hemoglobins. 6
563749 1978
38
A second patient with hemoglobin Alberta, a high-oxygen-affinity variant causing erythrocytosis and forming asymmetric tetramers. 6
750556 1978
39
Hemoglobin Raleigh (beta1 valine replaced by acetylalanine). Structural and functional characterization. 6
20942 1977
40
Isoelectric focusing studies of a "stable" asymmetrical hybrid formed with a new hemoglobin variant, hemoglobin alberta (alpha2beta2101(G3)Glu leads to Gly). 6
903694 1977
41
Postsynthetic deamidation of hemoglobin Providence (beta 82 Lys replaced by Asn, Asp) and its effect on oxygen transport. 6
14973 1977
42
Hemoglobin Bethesda, beta 145 (HC2) Tyr replaced by His, in a Canadian family. 6
949044 1976
43
Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain. 6
1249207 1976
44
Hemoglobin British Columbia (alpha2beta2 101(G3)Glu replaced by Lys). A new variant with high oxygen affinity. 6
1052179 1976
45
Altered C-terminal salt bridges in haemoglobin York cause high oxygen affinity. 6
1246355 1976
46
Hb-Alberta or alpha2beta2 (101(G3) Glu replaced by Gly), a new high-oxygen-affinity hemoglobin variant causing erythrocytosis. 6
1052180 1976
47
Hb Helsinki: a variant with a high oxygen affinity and a substitution at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met). 6
826083 1976
48
Haemoglobin Rahere (beta Lys-Thr): A new high affinity haemoglobin associated with decreased 2, 3-diphosphoglycerate binding and relative polycythaemia. 6
124 1975
49
Hemoglobin Wood beta97(FG4) His replaced by Leu. A new high-oxygen-affinity hemoglobin associated with familial erythrocytosis. 6
1164511 1975
50
Hemoglobin Fort Gordon or alpha2beta2145 Tyr replaced by Asp, a new high-oxygen-affinity hemoglobin variant. 6
1164510 1975

Variations for Erythrocytosis, Familial, 6

ClinVar genetic disease variations for Erythrocytosis, Familial, 6:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HBB HBB, TYR145ASN-TO-ASP SNV Pathogenic 15301 GRCh37:
GRCh38:
2 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.305A>G (p.Glu102Gly) SNV Pathogenic 15094 rs33937393 GRCh37: 11:5247817-5247817
GRCh38: 11:5226587-5226587
3 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.435G>C (p.Lys145Asn) SNV Pathogenic 15096 rs35020585 GRCh37: 11:5246837-5246837
GRCh38: 11:5225607-5225607
4 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.283G>C (p.Asp95His) SNV Pathogenic 15104 rs33959340 GRCh37: 11:5247839-5247839
GRCh38: 11:5226609-5226609
5 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.436T>C (p.Tyr146His) SNV Pathogenic 15112 rs33949869 GRCh37: 11:5246836-5246836
GRCh38: 11:5225606-5225606
6 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.302C>T (p.Pro101Leu) SNV Pathogenic 15116 rs33965000 GRCh37: 11:5247820-5247820
GRCh38: 11:5226590-5226590
7 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.206T>A (p.Leu69His) SNV Pathogenic 15117 rs33972593 GRCh37: 11:5247916-5247916
GRCh38: 11:5226686-5226686
8 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.304G>A (p.Glu102Lys) SNV Pathogenic 15118 rs33966487 GRCh37: 11:5247818-5247818
GRCh38: 11:5226588-5226588
9 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.299A>T (p.Asp100Val) SNV Pathogenic 15134 rs33971048 GRCh37: 11:5247823-5247823
GRCh38: 11:5226593-5226593
10 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.440A>T (p.His147Leu) SNV Pathogenic 15144 rs33954264 GRCh37: 11:5246832-5246832
GRCh38: 11:5225602-5225602
11 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.312C>G (p.Phe104Leu) SNV Pathogenic 15192 rs35067717 GRCh37: 11:5247810-5247810
GRCh38: 11:5226580-5226580
12 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.248A>T (p.Lys83Met) SNV Pathogenic 15193 rs33987903 GRCh37: 11:5247874-5247874
GRCh38: 11:5226644-5226644
13 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.439C>G (p.His147Asp) SNV Pathogenic 15200 rs33961444 GRCh37: 11:5246833-5246833
GRCh38: 11:5225603-5225603
14 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.299A>G (p.Asp100Gly) SNV Pathogenic 15204 rs33971048 GRCh37: 11:5247823-5247823
GRCh38: 11:5226593-5226593
15 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.298G>A (p.Asp100Asn) SNV Pathogenic 15236 rs33954595 GRCh37: 11:5247824-5247824
GRCh38: 11:5226594-5226594
16 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) SNV Pathogenic 15265 rs35291591 GRCh37: 11:5246834-5246834
GRCh38: 11:5225604-5225604
17 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.61G>A (p.Val21Met) SNV Pathogenic 15300 rs35890959 GRCh37: 11:5248191-5248191
GRCh38: 11:5226961-5226961
18 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.103G>T (p.Val35Phe) SNV Pathogenic 15312 rs1141387 GRCh37: 11:5248019-5248019
GRCh38: 11:5226789-5226789
19 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.306G>C (p.Glu102Asp) SNV Pathogenic 15317 rs35209591 GRCh37: 11:5247816-5247816
GRCh38: 11:5226586-5226586
20 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.299A>C (p.Asp100Ala) SNV Pathogenic 15315 rs33971048 GRCh37: 11:5247823-5247823
GRCh38: 11:5226593-5226593
21 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.248A>C (p.Lys83Thr) SNV Pathogenic 15321 rs33987903 GRCh37: 11:5247874-5247874
GRCh38: 11:5226644-5226644
22 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) SNV Pathogenic 15322 rs35117167 GRCh37: 11:5246835-5246835
GRCh38: 11:5225605-5225605
23 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.421G>A (p.Ala141Thr) SNV Pathogenic 15339 rs34980264 GRCh37: 11:5246851-5246851
GRCh38: 11:5225621-5225621
24 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.328G>A (p.Val110Met) SNV Pathogenic 15342 rs33969677 GRCh37: 11:5246944-5246944
GRCh38: 11:5225714-5225714
25 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.374C>A (p.Pro125Gln) SNV Pathogenic 15380 rs33983276 GRCh37: 11:5246898-5246898
GRCh38: 11:5225668-5225668
26 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.268A>C (p.Ser90Arg) SNV Pathogenic 15383 rs35351128 GRCh37: 11:5247854-5247854
GRCh38: 11:5226624-5226624
27 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.293A>T (p.His98Leu) SNV Pathogenic 15390 rs33951978 GRCh37: 11:5247829-5247829
GRCh38: 11:5226599-5226599
28 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.298G>C (p.Asp100His) SNV Pathogenic 15391 rs33954595 GRCh37: 11:5247824-5247824
GRCh38: 11:5226594-5226594
29 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.440A>C (p.His147Pro) SNV Pathogenic 15395 rs33954264 GRCh37: 11:5246832-5246832
GRCh38: 11:5225602-5225602
30 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) SNV Pathogenic 15397 rs33954595 GRCh37: 11:5247824-5247824
GRCh38: 11:5226594-5226594
31 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.110C>A (p.Pro37His) SNV Pathogenic 15578 rs33993004 GRCh37: 11:5248012-5248012
GRCh38: 11:5226782-5226782
32 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.300T>A (p.Asp100Glu) SNV Pathogenic 917854 GRCh37: 11:5247822-5247822
GRCh38: 11:5226592-5226592
33 LOC110006319 , HBB , LOC107133510 Hb Little Rock SNV Pathogenic 15250 GRCh37: 11:5246840-5246840
GRCh38: 11:5225610-5225610
34 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
35 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
36 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
37 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
38 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
39 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.269G>A (p.Ser90Asn) SNV Pathogenic 15147 rs33917628 GRCh37: 11:5247853-5247853
GRCh38: 11:5226623-5226623
40 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.294C>R (p.His98Gln) SNV Pathogenic 15259 rs34515413 GRCh37: 11:5247828-5247828
GRCh38: 11:5226598-5226598
41 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.428C>A (p.Ala143Asp) SNV Pathogenic 15294 rs33921821 GRCh37: 11:5246844-5246844
GRCh38: 11:5225614-5225614
42 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.70G>T (p.Val24Phe) SNV Pathogenic 15306 rs33929459 GRCh37: 11:5248182-5248182
GRCh38: 11:5226952-5226952
43 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) SNV Pathogenic 15319 rs33991993 GRCh37: 11:5247873-5247873
GRCh38: 11:5226643-5226643
44 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.431A>C (p.His144Pro) SNV Pathogenic 15365 rs33918338 GRCh37: 11:5246841-5246841
GRCh38: 11:5225611-5225611
45 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
46 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
47 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
48 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
49 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
50 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely pathogenic 393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159

Expression for Erythrocytosis, Familial, 6

Search GEO for disease gene expression data for Erythrocytosis, Familial, 6.

Pathways for Erythrocytosis, Familial, 6

GO Terms for Erythrocytosis, Familial, 6

Sources for Erythrocytosis, Familial, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....