EL2
MCID: ELL005
MIFTS: 37

Elliptocytosis 2 (EL2)

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

Aliases & Classifications for Elliptocytosis 2

MalaCards integrated aliases for Elliptocytosis 2:

Name: Elliptocytosis 2 57 72 29 6 39 70
Elliptocytosis-2 57 13
El2 57 72
Elliptocytosis, Rhesus-Unlinked Type 57
Elliptocytosis Rhesus-Unlinked Type 72
Elliptocytosis, Hereditary 70
Ovalocytosis 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
elliptocytosis 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 130600
MeSH 44 D004612
MedGen 41 C1851741
UMLS 70 C0013902 C1851741

Summaries for Elliptocytosis 2

UniProtKB/Swiss-Prot : 72 Elliptocytosis 2: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.

MalaCards based summary : Elliptocytosis 2, also known as elliptocytosis-2, is related to ovalocytosis, southeast asian and elliptocytosis 3. An important gene associated with Elliptocytosis 2 is SPTA1 (Spectrin Alpha, Erythrocytic 1). Affiliated tissues include heart, kidney and bone, and related phenotypes are hemolytic anemia and reticulocytosis

More information from OMIM: 130600

Related Diseases for Elliptocytosis 2

Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 2 Elliptocytosis 1
Elliptocytosis 3

Diseases related to Elliptocytosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 ovalocytosis, southeast asian 11.7
2 elliptocytosis 3 11.5
3 hereditary elliptocytosis 11.4
4 autosomal dominant distal renal tubular acidosis 11.0
5 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 11.0
6 elliptocytosis 1 11.0
7 renal tubular acidosis 10.4
8 distal renal tubular acidosis 10.3
9 malaria 10.3
10 deficiency anemia 10.2
11 hemolytic anemia 10.1
12 hypereosinophilic syndrome 10.1
13 thalassemia 10.1
14 helix syndrome 10.0
15 metabolic acidosis 10.0
16 bilirubin metabolic disorder 10.0
17 glucosephosphate dehydrogenase deficiency 10.0
18 hypokalemia 10.0
19 neonatal anemia 10.0
20 hereditary spherocytosis 10.0
21 plasmodium vivax malaria 10.0
22 triiodothyronine receptor auxiliary protein 9.9
23 dysphasia, familial developmental 9.9
24 specific language impairment 9.9
25 pernicious anemia 9.8
26 renal tubular acidosis, distal, 1 9.8
27 cryohydrocytosis 9.8
28 thymoma, familial 9.8
29 renal tubular acidosis, distal, 4, with hemolytic anemia 9.8
30 beta-thalassemia 9.8
31 scoliosis 9.8
32 bone disease 9.8
33 osteomalacia 9.8
34 secondary hyperparathyroidism 9.8
35 nephrocalcinosis 9.8
36 telangiectasis 9.8
37 hyperparathyroidism 9.8
38 plasmodium falciparum malaria 9.8
39 bardet-biedl syndrome 9.8
40 neonatal jaundice 9.8
41 hemoglobinopathy 9.8
42 thymoma 9.8
43 thymic carcinoma 9.8
44 syphilis 9.8
45 blood group incompatibility 9.8
46 hemoglobin e disease 9.8
47 kidney disease 9.8
48 nephrolithiasis 9.8
49 hypersplenism 9.8
50 chronic kidney disease 9.8

Graphical network of the top 20 diseases related to Elliptocytosis 2:



Diseases related to Elliptocytosis 2

Symptoms & Phenotypes for Elliptocytosis 2

Human phenotypes related to Elliptocytosis 2:

31
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 31 HP:0001878
2 reticulocytosis 31 HP:0001923
3 neonatal hyperbilirubinemia 31 HP:0003265
4 elliptocytosis 31 HP:0004445

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
elliptocytosis

Clinical features from OMIM®:

130600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Elliptocytosis 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes Completed NCT00723567

Search NIH Clinical Center for Elliptocytosis 2

Genetic Tests for Elliptocytosis 2

Genetic tests related to Elliptocytosis 2:

# Genetic test Affiliating Genes
1 Elliptocytosis 2 29 SPTA1

Anatomical Context for Elliptocytosis 2

MalaCards organs/tissues related to Elliptocytosis 2:

40
Heart, Kidney, Bone, Spleen

Publications for Elliptocytosis 2

Articles related to Elliptocytosis 2:

(show top 50) (show all 283)
# Title Authors PMID Year
1
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. 57 6
3597773 1987
2
Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis. 6 57
3708157 1986
3
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis. 57 6
4077050 1985
4
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. 6
16150946 2005
5
SVA elements are nonautonomous retrotransposons that cause disease in humans. 6
14628287 2003
6
A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. 6
8040317 1994
7
Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. 6
8132574 1994
8
A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis. 6
8490186 1993
9
An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism. 6
8444470 1993
10
Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin. 6
8435324 1993
11
Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function. 6
8434258 1993
12
Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis. 6
1642244 1992
13
Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site. 6
1638030 1992
14
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. 6
1541680 1992
15
Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis. 6
2043465 1991
16
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. 6
1845156 1991
17
Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe). 6
2384601 1990
18
Severe recessive poikilocytic anaemia with a new spectrin alpha chain variant. 6
2346729 1990
19
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. 6
2328319 1990
20
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. 6
2794061 1989
21
Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain. 6
2568861 1989
22
Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families. 6
2567189 1989
23
Spectrin Oran (alpha II/21), a new spectrin variant concerning the alpha II domain and causing severe elliptocytosis in the homozygous state. 6
2895677 1988
24
Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis. 57
3818958 1987
25
A new variant of the alpha subunit of spectrin in hereditary elliptocytosis. 57
3801663 1987
26
Altered spectrin association and membrane fragility without abnormal spectrin heat sensitivity in a case of congenital hemolytic anemia. 57
4025321 1985
27
Sp alpha I/65: a new variant of the alpha subunit of spectrin in hereditary elliptocytosis. 57
4027386 1985
28
The alpha-spectrin gene is on chromosome 1 in mouse and man. 57
2987946 1985
29
A new abnormal variant of spectrin in black patients with hereditary elliptocytosis. 6
3922449 1985
30
A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association. 57
6725555 1984
31
Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis. 57
6849840 1983
32
Spectrin tetramer-dimer equilibrium in hereditary elliptocytosis. 6
7074218 1982
33
Defective spectrin dimer-dimer association with hereditary elliptocytosis. 57
6952254 1982
34
Tryptic digestion of spectrin in variants of hereditary elliptocytosis. 57
7229027 1981
35
Hemolytic anemias due to abnormalities in red cell spectrin: a brief review. 57
7017750 1981
36
Inherited disorders of the red cell membrane skeleton. 57
6992078 1980
37
A maximum likelihood map of chromosome 1. 57
293128 1979
38
Another elliptocytosis locus on chromosome 1? 57
489004 1979
39
A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. 6
1191563 1975
40
A red cell membrane protein abnormality in hereditary elliptocytosis. 57
4752708 1973
41
The hereditary elliptocytoses: clinical and linkage data. 57
13864689 1962
42
The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. 57
13313518 1956
43
Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses. 61
32815885 2021
44
Homozygous Southeast Asian Ovalocytosis in five live-born neonates. 61
33179475 2020
45
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease. 61
32758154 2020
46
Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients. 61
32154456 2020
47
A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis. 61
32141208 2020
48
Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis. 61
32636758 2020
49
Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation. 61
32411010 2020
50
Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient. 61
31323480 2019

Variations for Elliptocytosis 2

ClinVar genetic disease variations for Elliptocytosis 2:

6 (show top 50) (show all 271)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTA1 NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) SNV Pathogenic 12845 rs121918635 GRCh37: 1:158641925-158641925
GRCh38: 1:158672135-158672135
2 SPTA1 NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) SNV Pathogenic 12848 rs121918636 GRCh37: 1:158648222-158648222
GRCh38: 1:158678432-158678432
3 SPTA1 NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) SNV Pathogenic 12849 rs121918637 GRCh37: 1:158655027-158655027
GRCh38: 1:158685237-158685237
4 SPTA1 NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) SNV Pathogenic 12852 rs121918640 GRCh37: 1:158655041-158655041
GRCh38: 1:158685251-158685251
5 SPTA1 NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) SNV Pathogenic 12853 rs121918641 GRCh37: 1:158655079-158655079
GRCh38: 1:158685289-158685289
6 SPTA1 NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) SNV Pathogenic 12854 rs121918642 GRCh37: 1:158655080-158655080
GRCh38: 1:158685290-158685290
7 SPTA1 NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) SNV Pathogenic 12855 rs121918642 GRCh37: 1:158655080-158655080
GRCh38: 1:158685290-158685290
8 SPTA1 NM_003126.4(SPTA1):c.2465-1G>A SNV Pathogenic 12860 rs863223305 GRCh37: 1:158631200-158631200
GRCh38: 1:158661410-158661410
9 SPTA1 SPTA1, EX5DEL, SVA RETROTRANSPOSON INS Indel Pathogenic 12861 GRCh37:
GRCh38:
10 SPTA1 NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) SNV Pathogenic 12857 rs121918643 GRCh37: 1:158650431-158650431
GRCh38: 1:158680641-158680641
11 SPTA1 NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) SNV Pathogenic 12844 rs121918634 GRCh37: 1:158648224-158648224
GRCh38: 1:158678434-158678434
12 SPTA1 NM_003126.4(SPTA1):c.83G>A (p.Arg28His) SNV Pathogenic 12856 rs121918641 GRCh37: 1:158655079-158655079
GRCh38: 1:158685289-158685289
13 SPTA1 NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs) Duplication Pathogenic 997515 GRCh37: 1:158612305-158612306
GRCh38: 1:158642515-158642516
14 SPTA1 NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) Duplication Pathogenic 12847 rs757679761 GRCh37: 1:158651385-158651386
GRCh38: 1:158681595-158681596
15 SPTA1 NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) SNV Pathogenic 12851 rs121918639 GRCh37: 1:158655017-158655017
GRCh38: 1:158685227-158685227
16 SPTA1 NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter) SNV Pathogenic 1030628 GRCh37: 1:158623089-158623089
GRCh38: 1:158653299-158653299
17 SPTA1 NM_003126.4(SPTA1):c.4339-99C>T SNV Pathogenic 1030630 GRCh37: 1:158613314-158613314
GRCh38: 1:158643524-158643524
18 SPTA1 NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) Microsatellite Pathogenic 1030633 GRCh37: 1:158584071-158584072
GRCh38: 1:158614281-158614282
19 SPTA1 NM_003126.4(SPTA1):c.1458dup (p.Gln487fs) Duplication Pathogenic 1033566 GRCh37: 1:158641878-158641879
GRCh38: 1:158672088-158672089
20 SPTA1 NM_003126.4(SPTA1):c.6414del (p.Ile2138fs) Deletion Pathogenic 1033568 GRCh37: 1:158589963-158589963
GRCh38: 1:158620173-158620173
21 SPTA1 NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) SNV Likely pathogenic 12850 rs121918638 GRCh37: 1:158655025-158655025
GRCh38: 1:158685235-158685235
22 SPTA1 NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) SNV Uncertain significance 292989 rs200890386 GRCh37: 1:158617386-158617386
GRCh38: 1:158647596-158647596
23 SPTA1 NM_003126.4(SPTA1):c.1554T>C (p.His518=) SNV Uncertain significance 293037 rs886045392 GRCh37: 1:158641178-158641178
GRCh38: 1:158671388-158671388
24 SPTA1 NM_003126.4(SPTA1):c.679-5A>C SNV Uncertain significance 293051 rs772845211 GRCh37: 1:158648329-158648329
GRCh38: 1:158678539-158678539
25 SPTA1 NM_003126.4(SPTA1):c.6378G>T (p.Val2126=) SNV Uncertain significance 292953 rs141823269 GRCh37: 1:158589999-158589999
GRCh38: 1:158620209-158620209
26 SPTA1 NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) SNV Uncertain significance 293019 rs118088187 GRCh37: 1:158632689-158632689
GRCh38: 1:158662899-158662899
27 SPTA1 NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn) SNV Uncertain significance 292955 rs757836340 GRCh37: 1:158590144-158590144
GRCh38: 1:158620354-158620354
28 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*133C>T SNV Uncertain significance 292925 rs868674912 GRCh37: 1:158580921-158580921
GRCh38: 1:158611131-158611131
29 SPTA1 NM_003126.4(SPTA1):c.854C>T (p.Pro285Leu) SNV Uncertain significance 293044 rs755259437 GRCh37: 1:158647583-158647583
GRCh38: 1:158677793-158677793
30 SPTA1 NM_003126.4(SPTA1):c.3477+15C>T SNV Uncertain significance 258928 rs369904982 GRCh37: 1:158621142-158621142
GRCh38: 1:158651352-158651352
31 SPTA1 NM_003126.4(SPTA1):c.2484C>T (p.Ser828=) SNV Uncertain significance 293013 rs753103122 GRCh37: 1:158631180-158631180
GRCh38: 1:158661390-158661390
32 SPTA1 NM_003126.4(SPTA1):c.1573T>C (p.Phe525Leu) SNV Uncertain significance 293036 rs886045391 GRCh37: 1:158641159-158641159
GRCh38: 1:158671369-158671369
33 SPTA1 NM_003126.4(SPTA1):c.5304C>T (p.Ala1768=) SNV Uncertain significance 292975 rs886045383 GRCh37: 1:158606437-158606437
GRCh38: 1:158636647-158636647
34 SPTA1 NM_003126.4(SPTA1):c.6843-8T>C SNV Uncertain significance 292944 rs766464890 GRCh37: 1:158583665-158583665
GRCh38: 1:158613875-158613875
35 SPTA1 NM_003126.4(SPTA1):c.812+7A>T SNV Uncertain significance 293046 rs186595817 GRCh37: 1:158648184-158648184
GRCh38: 1:158678394-158678394
36 SPTA1 NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg) SNV Uncertain significance 292982 rs568501725 GRCh37: 1:158612301-158612301
GRCh38: 1:158642511-158642511
37 SPTA1 NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) SNV Uncertain significance 292990 rs143642542 GRCh37: 1:158617396-158617396
GRCh38: 1:158647606-158647606
38 SPTA1 NM_003126.4(SPTA1):c.1463T>A (p.Val488Glu) SNV Uncertain significance 293039 rs754575328 GRCh37: 1:158641874-158641874
GRCh38: 1:158672084-158672084
39 SPTA1 NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly) SNV Uncertain significance 292942 rs374589766 GRCh37: 1:158583649-158583649
GRCh38: 1:158613859-158613859
40 SPTA1 NM_003126.4(SPTA1):c.2822A>G (p.His941Arg) SNV Uncertain significance 293006 rs751259397 GRCh37: 1:158626430-158626430
GRCh38: 1:158656640-158656640
41 SPTA1 NM_003126.4(SPTA1):c.1396G>C (p.Asp466His) SNV Uncertain significance 293040 rs201669174 GRCh37: 1:158641941-158641941
GRCh38: 1:158672151-158672151
42 SPTA1 NM_003126.4(SPTA1):c.3477+10G>C SNV Uncertain significance 292993 rs201932894 GRCh37: 1:158621147-158621147
GRCh38: 1:158651357-158651357
43 SPTA1 NM_003126.4(SPTA1):c.444G>A (p.Leu148=) SNV Uncertain significance 293053 rs557685746 GRCh37: 1:158651404-158651404
GRCh38: 1:158681614-158681614
44 SPTA1 NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) SNV Uncertain significance 292991 rs369125471 GRCh37: 1:158618316-158618316
GRCh38: 1:158648526-158648526
45 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*294A>G SNV Uncertain significance 292921 rs886045378 GRCh37: 1:158580760-158580760
GRCh38: 1:158610970-158610970
46 SPTA1 NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=) SNV Uncertain significance 292952 rs756418963 GRCh37: 1:158589987-158589987
GRCh38: 1:158620197-158620197
47 SPTA1 NM_003126.4(SPTA1):c.2015T>C (p.Leu672Ser) SNV Uncertain significance 293023 rs886045389 GRCh37: 1:158637671-158637671
GRCh38: 1:158667881-158667881
48 SPTA1 NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln) SNV Uncertain significance 293007 rs36057043 GRCh37: 1:158627400-158627400
GRCh38: 1:158657610-158657610
49 SPTA1 NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu) SNV Uncertain significance 292938 rs747391167 GRCh37: 1:158582750-158582750
GRCh38: 1:158612960-158612960
50 SPTA1 NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys) SNV Uncertain significance 293000 rs762361277 GRCh37: 1:158623086-158623086
GRCh38: 1:158653296-158653296

UniProtKB/Swiss-Prot genetic disease variations for Elliptocytosis 2:

72 (show all 19)
# Symbol AA change Variation ID SNP ID
1 SPTA1 p.Ile24Ser VAR_001324
2 SPTA1 p.Arg28His VAR_001325 rs121918641
3 SPTA1 p.Arg28Leu VAR_001326 rs121918641
4 SPTA1 p.Arg28Ser VAR_001327 rs121918642
5 SPTA1 p.Arg28Cys VAR_001328 rs121918642
6 SPTA1 p.Val31Ala VAR_001329 rs773826036
7 SPTA1 p.Arg34Trp VAR_001330 rs201568233
8 SPTA1 p.Arg41Trp VAR_001331 rs121918640
9 SPTA1 p.Arg45Ser VAR_001332 rs121918637
10 SPTA1 p.Arg45Thr VAR_001333
11 SPTA1 p.Gly46Val VAR_001334 rs121918638
12 SPTA1 p.Leu49Phe VAR_001336 rs121918639
13 SPTA1 p.Gly151Asp VAR_001337 rs199725919
14 SPTA1 p.Leu207Pro VAR_001339 rs121918643
15 SPTA1 p.Leu260Pro VAR_001340 rs121918634
16 SPTA1 p.Ser261Pro VAR_001341 rs121918636
17 SPTA1 p.His469Pro VAR_001342
18 SPTA1 p.Gln471Pro VAR_001344 rs121918635
19 SPTA1 p.Asp791Glu VAR_001346 rs7418956

Expression for Elliptocytosis 2

Search GEO for disease gene expression data for Elliptocytosis 2.

Pathways for Elliptocytosis 2

GO Terms for Elliptocytosis 2

Sources for Elliptocytosis 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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