Spherocytosis malady

Wikipedia: Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of...⁴⁴ more...

MalaCards: Spherocytosis is related to hereditary spherocytosis and protein s deficiency. An important gene associated with Spherocytosis is SLC4A1 (solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)), and among its related pathways are Pentose Phosphate Pathway (Erythrocyte) and Glycolysis and gluconeogenesis (short map). The compounds diamide and hypoxanthine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and t cells, and related mouse phenotypes are renal/urinary system and liver/biliary system.

spherocytosis 7 32 43

Disease types for spherocytosis family:

spherocytosis, type 1	spherocytosis, type 2
spherocytosis, type 3	spherocytosis, type 4
spherocytosis, type 5

Diseases related to spherocytosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 114)

id	Related Disease	Score	Top Affiliating Genes
1	hereditary spherocytosis	35.6	UGT1A1, CD47, GYPA, ANK1, SPTA1, SPTB
2	protein s deficiency	30.1	F5, SPTB, RHD
3	hereditary elliptocytosis	28.5	GYPC, SPTA1, SPTB, RHD, G6PD, SLC4A1
4	kernicterus	28.2	UGT1A1, RHD, G6PD
5	hemochromatosis	28.0	HP, HFE, TFRC
6	elliptocytosis	28.0	CD5L, GYPC, ANK1, HP, SPTA1, SPTB
7	pyropoikilocytosis hereditary	13.7	SPTA1, SPTB
8	congenital dyserythropoietic anemia	13.6	RHD, HFE, SLC4A1
9	neonatal jaundice	13.6	UGT1A1, RHD, G6PD
10	pyropoikilocytosis	13.6	SPTA1, SPTB, EPB41
11	human granulocytic anaplasmosis	13.6	ANK1, TFRC
12	fetal erythroblastosis	13.5	RHD, G6PD, EPO
13	glucosephosphate dehydrogenase deficiency	13.5	UGT1A1, HP, G6PD
14	blackwater fever	13.5	HP, G6PD
15	alpha thalassemia	13.5	UGT1A1, G6PD, HBG1, HFE
16	rh isoimmunization	13.4	RHD, EPO
17	bilirubin metabolic disorder	13.4	UGT1A1, HP, G6PD
18	microcytic anemia	13.4	G6PD, TFRC, EPO
19	congenital hemolytic anemia	13.4	G6PD, HBG1, EPO
20	glucosephosphate isomerase deficiency	13.4	GPI, G6PD
21	childhood leukemia	13.4	SPTB, RHD, HFE, TFRC
22	congenital nonspherocytic hemolytic anemia	13.4	GPI, G6PD
23	iron metabolism disease	13.4	HFE, TFRC
24	iron deficiency anemia	13.3	G6PD, HFE, TFRC, EPO
25	pyruvate kinase deficiency	13.3	PKLR, G6PD, HFE, EPO
26	chronic myeloproliferative disease	13.3	F5, HFE, TFRC
27	priapism	13.3	F5, HP, G6PD, SLC4A1
28	hemoglobinuria	13.2	HP, G6PD, TFRC, EPO
29	dyserythropoietic anemia with thrombocytopenia	13.2	UGT1A1, HP, SPTB, RHD, HFE, EPB42
30	porphyria cutanea tarda	13.2	HFE, TFRC, EPO
31	hemoglobin s beta-thalassemia	13.2	G6PD, HBG1
32	beta thalassemia	13.1	HFE, TFRC
33	cerebral malaria	13.1	GYPA, G6PD, TFRC, EPO
34	iron overload	13.1	UGT1A1, F5, HFE, TFRC, EPO
35	hepatitis a	13.1	GYPA, F5, G6PD, GAPDH
36	polycythemia vera	13.1	F5, G6PD, HFE, EPO
37	sickle cell anemia	13.1	UGT1A1, F5, G6PD, HBG1, EPO
38	hemoglobinopathy	13.0	HP, G6PD, HBG1, HFE, TFRC, EPO
39	hydrops fetalis	13.0	GPI, SPTA1, SPTB, RHD, G6PD, EPO
40	viral hepatitis	13.0	F5, HP, G6PD, HFE, EPO
41	thrombophilia	12.9	MTHFD1, F5, HP, HFE
42	headache	12.9	F5, HP, HFE, EPO
43	polycythemia	12.9	GYPA, F5, G6PD, HFE, TFRC, EPO
44	cholelithiasis	12.9	UGT1A1, HP, ABCB11, G6PD, HFE
45	autoimmune hemolytic anemia	12.9	CD47, GYPA, F5, HP, RHD, G6PD
46	thrombocytopenia	12.9	CD47, F5, HP, RHD, HFE, EPO
47	malaria, resistance to	12.9	GYPA, GYPC, SLC4A1
48	favism	12.8	HP, G6PD
49	essential hypertension	12.7	F5, HP, SPTB, RHD, ADD2, ADD3
50	purpura	12.7	F5, HP, RHD, G6PD, EPO

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to spherocytosis:

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MGI Mouse Phenotypes related to spherocytosis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.8	GAPDH, BLOC1S6, ANK1, HP, SPTA1, SPTB
2	liver/biliary system phenotype	MP:0005370	7.7	ABCB11, HFE, TFRC, ADD2, EPB41, SPTB
3	immune system phenotype	MP:0005387	7.3	SPTA1, HP, ANXA7, HFE, ANK1, BLOC1S6
4	cardiovascular system phenotype	MP:0005385	6.9	BLOC1S6, CD47, ADD3, SPTB, EPO, GAPDH
5	hematopoietic system phenotype	MP:0005397	6.9	ANXA7, ADD2, PRDX2, TFRC, RHD, RHAG
6	growth/size phenotype	MP:0005378	6.7	ANXA7, PCMT1, BLOC1S6, MTHFD1, ANK1, ANK2
7	mortality/aging	MP:0010768	5.3	PCMT1, HFE, BLOC1S6, MTHFD1, CD47, ICMT
8	homeostasis/metabolism phenotype	MP:0005376	5.1	F5, GPI, ANXA7, HP, ANK2, ANK1

Articles related to spherocytosis:

(show top 50)    (show all 97)

id	Title	Authors	Year	Affiliating Genes
1	Excessive bilirubin elevation in a patient with hered itary spherocytosis and intrahepatic cholestasis. (21811948)	Wree A.... NA1ckel H.	2011	ABCB11
2	Band 3 Edmonton I, a novel mutant of the anion exchan ger 1 causing spherocytosis and distal renal tubular acidosis. (20028337)	Chu C.... Cordat E.	2010	SLC4A1
3	Mutation of a barrier insulator in the human ankyrin- 1 gene is associated with hereditary spherocytosis. (21099109)	Gallagher P.G.... Bodine D.M.	2010	ANK1
4	Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis. (19380292)	HAPblinger A.... Lammert F.	2009	HFE
5	Compound mutations in human anion exchanger 1 are ass ociated with complete distal renal tubular acidosis and hereditary spherocytosi s. (19625994)	Chang Y.H.... Lu P.J.	2009	SLC4A1
6	Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. (19608679)	Perrotta S.... Iolascon A.	2009	SPTB
7	Presence of cytosolic peroxiredoxin 2 in the erythrocyte membrane of patients with hereditary spherocytosis. (18387321)	Rocha S.... Santos-Silva A.	2008	PRDX2
8	A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. (17327413)	Edelman E.J.... Gallagher P.G.	2007	ANK1
9	Structure and stability of hereditary spherocytosis mutants of the cytosolic domain of the erythrocyte anion exchanger 1 protein. (16411779)	Bustos S.P.... Reithmeier R.A.	2006	SLC4A1
10	(AC)n microsatellite polymorphism and 14-nucleotide deletion in exon 42 ankyrin-1 gene in several families with hereditary spherocytosis in a population of South-Western Poland. (16518602)	Bogusl/awska D.M.... Sikorski A.F.	2006	ANK1
11	Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis. (17112522)	Caterino M.... Iolascon A.	2006	ANXA7
12	Band 3Tambau: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. (15813913)	Lima P.R.... Saad S.T.	2005	SLC4A1
13	Ischemic cerebral infarction due to factor V Leiden, hereditary spherocytosis and smoking (15712169)	Monge-ArgilAcs J.A.... Bautista-Prados J.	2005	F5
14	Hereditary spherocytosis in association with severe G6PD deficiency: report of an unusual case. (15149895)	Kedar P.S.... Mohanty D.	2004	G6PD
15	Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis. (14636652)	SA!nchez-LA^pez J.Y.... Perea F.J.	2003	SPTB, RHD
16	Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. (12899723)	Ozcan R.... Eber S.W.	2003	ANK1
17	Ankyrin gene mutations in japanese patients with hereditary spherocytosis. (11372755)	Nakanishi H.... Yawata Y.	2001	ANK1
18	beta-Spectrin S(ta) Barbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism. (11703334)	Basseres D.S.... Saad S.T.	2001	SPTB
19	Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. (11380459)	Bracher N.A.... Coetzer T.L.	2001	SLC4A1
20	Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression. (11527968)	Gallagher P.G.... Bodine D.M.	2001	ANK1, HBG1
21	Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitro. (10907638)	Dooner G.J.... Becker P.S.	2000	EPO
22	Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. (10942416)	Ribeiro M.L.... Tamagnini G.	2000	SLC4A1
23	Co-existence of hereditary spherocytosis and a new red cell pyruvate kinase variant: PK mallorca. (10702808)	Zarza R.... Vives-Corrons J.L.	2000	PKLR
24	Abnormalities of erythrocyte membrane proteins in Kor ean patients with hereditary spherocytosis. (10895969)	Lee Y.K.... Ahn H.S.	2000	RHD
25	The red blood cell band 3 variant (band 3BiceA-trel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect. (10766130)	Dhermy D.... Grandchamp B.	1999	RHD
26	4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. (10406914)	Perrotta S.... Miraglia del Giudice E.	1999	EPB42
27	Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis. (10580570)	Lima P.R.M.... Saad S.T.O.	1999	SLC4A1
28	A 5' splice region G-->C mutation in exon 3 of the human beta- spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene- Penfao). (9450796)	Garbarz M.... Dhermy D.	1998	SPTB
29	Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family. (9414314)	Basseres D.S.... Hassoun H.	1998	SPTA1, SPTB
30	Hereditary spherocytosis: one year study of erythroc yte membrane proteins (9844481)	Tshilolo L.... Gulbis B.	1998	RHD
31	Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency. (9734643)	Inoue T.... Yawata Y.	1998	SLC4A1
32	Band 3 Campinas: a novel splicing mutation in the band 3 gene (AE1) associated with hereditary spherocytosis, hyperactivity of Na+/Li+ countertransport and an abnormal renal bicarbonate handling. (9326249)	Lima P.R.... Saad S.T.	1997	SLC4A1
33	Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. (9012689)	Miraglia del Giudice E.... Alloisio N.	1997	SLC4A1
34	Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. (8841202)	Southgate C.D.... Palek J.	1996	SLC4A1
35	Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin. (8630421)	Hassoun H.... Palek J.	1996	SPTB
36	Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (8640229)	Eber S.W.... Lux S.E.	1996	SLC4A1, ANK1
37	Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis. (8703812)	del Giudice E.M.... Morle L.	1996	ANK1
38	Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (8844207)	Maillet P.... Delaunay J.	1996	SPTA1, SPTB
39	Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. (8547122)	Maillet P.... Alloisio N.	1995	SLC4A1
40	Abnormal changes in erythrocyte membrane proteins in hereditary spherocytosis and their relation to clinical and biological aspects of the disease (7603093)	Ayala S.... Vives Corrons J.L.	1995	RHD, BLOC1S6
41	Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population. (7894027)	Inoue T.... Yawata Y.	1994	ANK1
42	Erythrocyte membrane protein alterations underlying c linical heterogeneity in hereditary spherocytosis. (7803256)	Miraglia del Giudice E.... Perrotta S.	1994	RHD
43	Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). (8282779)	Jarolim P.... Brugnara C.	1994	SLC4A1
44	Hereditary spherocytosis and glucose-6 phosphate dehydrogenase deficiency. (7860526)	Satheesh P.... Thomas M.	1994	G6PD
45	Beta spectrin Kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. (8102379)	Becker P.S.... Forget B.G.	1993	SPTA1, SPTB
46	Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)	GaczyA8ska M.... Judkiewicz L.	1991	RHD
47	Disorders of the membrane skeleton of erythrocytes i n hereditary spherocytosis and elliptocytosis: significance of the molecular de fect for pathogenesis and clinical severity (1942935)	Eber S.W.	1991	SPTB
48	Mitral and aortic valve replacement with tricuspid a nnuloplasty in a patient suffering from hereditary spherocytosis (1940522)	Onitsuka T.... Koga Y.	1991	HP
49	Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. (2141669)	Lux S.E.... Bennett V.	1990	SPTB
50	Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis. (7104494)	Goodman S.R.... Eyster M.E.	1982	SPTA1, SPTB

Genes related to spherocytosis according to GeneCards:

(show all 40)

id	Symbol	Description	Score	GeneCards Section Context
1	SLC4A1	solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	11.1	Publications, Summaries
2	SPTB	spectrin, beta, erythrocytic	11.1	Summaries, Publications
3	ANK1	ankyrin 1, erythrocytic	11.1	Summaries, Publications
4	EPB42	erythrocyte membrane protein band 4.2	11.0	Publications
5	SPTA1	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	11.0	Publications
6	RHD	Rh blood group, D antigen	11.0	Publications
7	CD47	CD47 molecule	11.0	Publications
8	ADD2	adducin 2 (beta)	11.0	Publications
9	UGT1A1	UDP glucuronosyltransferase 1 family, polypeptide A1	11.0	Publications
10	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
11	HFE	hemochromatosis	11.0	Publications
12	TFRC	transferrin receptor (p90, CD71)	11.0	Publications
13	CD5L	CD5 molecule-like	11.0
14	SRI	sorcin	11.0	Publications
15	PRDX2	peroxiredoxin 2	11.0	Publications
16	ANXA7	annexin A7	11.0	Publications
17	PKLR	pyruvate kinase, liver and RBC	11.0	Publications
18	HBG1	hemoglobin, gamma A	11.0	Publications
19	EPB49	erythrocyte membrane protein band 4.9 (dematin)	11.0
20	ADD3	adducin 3 (gamma)	11.0	Publications
21	GYPA	glycophorin A (MNS blood group)	11.0
22	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	11.0
23	GAPDH	glyceraldehyde-3-phosphate dehydrogenase	11.0	Publications
24	EPB41	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	11.0	Publications
25	HP	haptoglobin	11.0	Publications
26	EPO	erythropoietin	11.0	Publications
27	F5	coagulation factor V (proaccelerin, labile factor)	11.0	Publications
28	CHURC1	churchill domain containing 1	11.0	Publications
29	KCTD6	potassium channel tetramerisation domain containing 6	11.0	Disorders
30	PLEKHG3	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	11.0	Publications
31	ICMT	isoprenylcysteine carboxyl methyltransferase	11.0
32	RHAG	Rh-associated glycoprotein	11.0
33	MTHFD1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	11.0	Publications
34	GPI	glucose-6-phosphate isomerase	11.0
35	KAL1	Kallmann syndrome 1 sequence	11.0	Publications
36	ABCB11	ATP-binding cassette, sub-family B (MDR/TAP), member 11	11.0	Publications
37	DNM2	dynamin 2	11.0
38	ANK2	ankyrin 2, neuronal	11.0
39	GYPC	glycophorin C (Gerbich blood group)	11.0
40	BLOC1S6	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	10.1	Publications

Pathways related to spherocytosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Pentose Phosphate Pathway (Erythrocyte)34	10.0	GPI, G6PD
2	Glycolysis and gluconeogenesis (short map)10	9.6	GPI, PKLR, GAPDH
3	Glycolysis and gluconeogenesis (short map)41	9.4	GPI, PKLR, GAPDH

Compounds related to spherocytosis according to GeneDecks:

(show top 50)    (show all 62)

id	Compound	Score	Top Affiliating Genes
1	diamide32	10.3	RHD, GAPDH, G6PD
2	hypoxanthine32 9 18 9	13.2	G6PD, GAPDH, TFRC, GYPA
3	zinc protoporphyrin32	10.2	EPO, TFRC, G6PD, HP
4	protoporphyrin ix32 9 18 9	13.2	HP, TFRC, EPO
5	mefloquine32 9 9	12.2	ABCB11, G6PD, RHD
6	mycophenolate mofetil32 9 9	12.1	UGT1A1, F5, TFRC, EPO
7	23-diphosphoglycerate32	10.1	HP, G6PD, EPO, GAPDH
8	phenylhydrazine32	10.1	RHD, EPO
9	nh4cl32	10.1	TFRC, RHD, RHAG, GAPDH
10	fructose-1,6-bisphosphate32	10.1	GAPDH, G6PD, GPI
11	amtb32	10.1	RHD, RHAG
12	phosphatidylserine32 9 9	12.1	ANK1, F5, CD47, ANXA7, GAPDH
13	sialic acid32	10.1	HP, TFRC, EPO, GYPA
14	benzidine32	10.0	TFRC, HBG1, UGT1A1, EPO, HP
15	glucose32	10.0	GPI, GAPDH, RHD, SPTB
16	isocitrate32	10.0	GPI, PRDX2, GAPDH, G6PD
17	6-phosphogluconate32	10.0	G6PD, GPI, GAPDH
18	uric acid32 18	11.0	HP, F5, HFE, G6PD
19	hydroxyurea32 9 9	12.0	HBG1, TFRC, UGT1A1, EPO
20	malondialdehyde32	10.0	EPO, G6PD, HP, F5
21	alpha-ketoglutarate32	10.0	GPI, G6PD, PKLR, GAPDH
22	polyethylene glycol32	10.0	GAPDH, F5, HP, TFRC, G6PD
23	vitamin b1232	10.0	F5, TFRC, EPO, HP, G6PD
24	sodium dodecylsulfate32	9.9	GAPDH, RHD, HP, F5, GYPA
25	citrate32	9.9	F5, HP, G6PD, TFRC, SLC4A1, GAPDH
26	starch32	9.9	HP, G6PD, GPI
27	rifampicin32	9.8	UGT1A1, HP, ABCB11, GAPDH
28	glucose 6-phosphate32 18	10.8	GAPDH, G6PD, HP, GPI, UGT1A1
29	agarose32	9.8	HFE, GPI, HP, SPTB, GAPDH
30	cellulose acetate32	9.8	GPI, HP, G6PD
31	5-aminolevulinic acid32 18	10.7	TFRC, HFE, HBG1
32	pyruvate32	9.7	HFE, GAPDH, GPI, PKLR, G6PD
33	homocysteine32 18	10.6	RHD, HP, ICMT, F5, MTHFD1
34	ascorbic acid32 18	10.6	F5, HFE, HP, G6PD, TFRC, GAPDH
35	polyacrylamide32	9.5	GPI, GAPDH, HBG1, RHD, HP, F5
36	folate32	9.5	MTHFD1, F5, G6PD, TFRC, HP, SLC4A1
37	phospholipid32	9.4	SLC4A1, ANXA7, F5, HP, ABCB11, RHD
38	testosterone32 9 18 9	12.4	HFE, TFRC, EPO, G6PD, GAPDH, HP
39	lactate32	9.3	GPI, GAPDH, EPO, SLC4A1, TFRC, G6PD
40	creatinine32	9.2	GAPDH, EPO, PRDX2, TFRC, G6PD, HP
41	cysteine32	9.0	GAPDH, SLC4A1, PRDX2, ICMT, TFRC, ABCB11
42	cholesterol32 9 18 9	11.9	SLC4A1, DNM2, ABCB11, HP, F5, CD47
43	calcium32 9 18 9	11.7	RHD, EPB41, CD47, F5, ADD2, GYPA
44	alanine32	8.6	GYPC, GYPA, UGT1A1, F5, HP, SLC4A1
45	aspartate32	8.5	PCMT1, ICMT, HP, RHD, G6PD, HFE
46	glyceraldehyde 3-phosphate32	8.5	TFRC, GYPC, GPI, SPTB, PKLR, PRDX2
47	atp32	8.3	GYPC, PKLR, RHD, ABCB11, G6PD, HP
48	serine32	7.7	SPTB, ADD2, GAPDH, MTHFD1, TFRC, G6PD
49	tyrosine32	7.2	SLC4A1, UGT1A1, ABCB11, CD47, GYPC, ANK1
50	lipid32	7.0	G6PD, SLC4A1, DNM2, GYPA, GYPC, ANK1

Cellular components related to spherocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	intrinsic to internal side of plasma membrane	GO:031235	10.3	SPTA1, SPTB
2	spectrin	GO:008091	10.1	SPTB, EPB41, SPTA1
3	spectrin-associated cytoskeleton	GO:014731	10.1	EPB41, SPTB, ANK1, SPTA1
4	cortical cytoskeleton	GO:030863	9.2	GYPC, EPB49, EPB41, SLC4A1, ANK1
5	membrane	GO:016020	8.7	ABCB11, TFRC, ADD3, GAPDH, GYPA, CD5L
6	integral to plasma membrane	GO:005887	8.1	HFE, UGT1A1, CD47, GYPC, RHAG, RHD
7	cytosol	GO:005829	6.7	GPI, ANXA7, ANK2, ANK1, MTHFD1, SPTA1
8	plasma membrane	GO:005886	5.1	HFE, ABCB11, RHAG, SRI, GYPC, TFRC

Biological processes related to spherocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	porphyrin-containing compound biosynthetic process	GO:006779	10.3	ANK1, SPTA1, SPTB
2	actin filament capping	GO:051693	10.1	EPB49, SPTB, SPTA1
3	erythrocyte maturation	GO:043249	10.1	EPO, EPB42, G6PD
4	cellular ion homeostasis	GO:006873	10.1	RHAG, SLC4A1
5	glucose 6-phosphate metabolic process	GO:051156	9.9	G6PD, GPI
6	positive regulation of protein binding	GO:032092	9.7	SPTA1, EPB41, ADD2

Molecular functions related to spherocytosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of cytoskeleton	GO:005200	9.7	EPB41, ADD3, SPTB, SPTA1, ANK1, EPB42
2	ankyrin binding	GO:030506	9.7	RHAG, SLC4A1, SPTB
3	actin binding	GO:003779	9.6	SLC4A1, ADD2, ADD3, EPB41, EPB49, SPTB
4	actin filament binding	GO:051015	9.5	BLOC1S6, SPTA1, SPTB, ADD2
5	spectrin binding	GO:030507	9.5	ANK1, ANK2, EPB41, ADD2