SPH5
MCID: SPH017
MIFTS: 43

Spherocytosis, Type 5 (SPH5)

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

Aliases & Classifications for Spherocytosis, Type 5

MalaCards integrated aliases for Spherocytosis, Type 5:

Name: Spherocytosis, Type 5 57 39 70
Hereditary Spherocytosis Type 5 12 72 15
Sph5 57 12 72
Hs5 57 12 72
Spherocytosis Type 5 29 6
Spherocytosis, Hereditary, 5; Hs5 57
Spherocytosis, Hereditary, Type 5 13
Spherocytosis, Hereditary, 5 57
Hereditary Spherocytosis 5 12
Spherocytosis 5 72

Characteristics:

HPO:

31
spherocytosis, type 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110920
OMIM® 57 612690
MedGen 41 C2675192
UMLS 70 C2675192

Summaries for Spherocytosis, Type 5

UniProtKB/Swiss-Prot : 72 Spherocytosis 5: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported.

MalaCards based summary : Spherocytosis, Type 5, also known as hereditary spherocytosis type 5, is related to parasagittal meningioma and scleredema adultorum. An important gene associated with Spherocytosis, Type 5 is EPB42 (Erythrocyte Membrane Protein Band 4.2), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Related phenotypes are splenomegaly and jaundice

Disease Ontology : 12 A hereditary spherocytosis that has material basis in a mutation of EPB42 on chromosome 15q15.2.

More information from OMIM: 612690

Related Diseases for Spherocytosis, Type 5

Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 1 Spherocytosis, Type 3
Spherocytosis, Type 4 Spherocytosis, Type 5
Spherocytosis, Type 2 Epb42-Related Hereditary Spherocytosis

Diseases related to Spherocytosis, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 parasagittal meningioma 10.4 SDC1 CD34
2 scleredema adultorum 10.2 FN1 CD34
3 solitary osseous plasmacytoma 10.2 SDC1 CD38
4 gamma heavy chain disease 10.2 SDC1 CD38
5 nasal cavity benign neoplasm 10.2 SDC1 CD34
6 non-secretory myeloma 10.2 SDC1 CD38
7 glomeruloid hemangioma 10.2 SDC1 IL6 CD34
8 aids dementia complex 10.2 CXCR4 CXCL12
9 hereditary spherocytosis 10.2 SDC1 RPS27A EPB42 CD34
10 mental retardation, autosomal dominant 36 10.2 SDC1 CD38
11 mental retardation, autosomal dominant 40 10.2 CXCR4 CXCL12 CD34
12 leukemia, chronic lymphocytic 2 10.2 MCL1 CD38
13 mental retardation, autosomal dominant 10 10.1 SDC1 CD38 CD34
14 breast carcinoma in situ 10.1 SDC1 IL6 AKT1
15 invasive malignant thymoma 10.1 CD38 CD34
16 mixed lacrimal gland cancer 10.1 STAT3 IL6
17 childhood t-cell acute lymphoblastic leukemia 10.1 CD38 ANXA5 AKT1
18 post-cardiac arrest syndrome 10.1 SDC1 IL6
19 lower lip cancer 10.1 CXCR4 CD34
20 extramedullary plasmacytoma 10.1 SDC1 IL6 CD38
21 multicentric castleman disease 10.1 SDC1 IL6 CD38
22 retinal vascular disease 10.1 IL6 FN1 AKT1
23 coronary stenosis 10.1 IL6 CXCR4 CXCL12
24 monoclonal gammopathy of uncertain significance 10.1 SDC1 IL6 CD38
25 plasma cell leukemia 10.1 SDC1 IL6 CD38
26 immunodeficiency 14 10.0 STAT3 BTK AKT1
27 gastrointestinal stromal tumor 10.0 MCL1 CD34 ANXA5 AKT1
28 hypotrichosis 1 10.0 IL6 FN1 ANXA5 AKT1
29 mature b-cell neoplasm 10.0 SDC1 IL6 CD38
30 tongue disease 10.0 STAT3 ANXA5 AKT1
31 acute megakaryocytic leukemia 10.0 CD34 ANXA5 AKT1
32 colonic benign neoplasm 10.0 STAT3 IL6 AKT1
33 blood protein disease 10.0 SDC1 IL6 CD38 CD34
34 intestinal benign neoplasm 10.0 STAT3 IL6 AKT1
35 leukemia, chronic myeloid 10.0 MCL1 FN1 CD34 ANXA5 AKT1
36 gastrointestinal system benign neoplasm 9.9 STAT3 IL6 AKT1
37 prostate cancer 9.9
38 allergic disease 9.9
39 severe combined immunodeficiency 9.9
40 waldenstroem's macroglobulinemia 9.9 SDC1 CXCR4 CD38 BTK
41 blood platelet disease 9.9 IL6 CD38 CD34 AKT1
42 plasmacytoma 9.9 IL6 CXCL12 CD38 AKT1
43 integumentary system disease 9.9 STAT3 IL6 CD34 AKT1
44 kaposi sarcoma 9.9 STAT3 IL6 CD34 AKT1
45 cholangiocarcinoma 9.9 STAT3 MCL1 IL6 AKT1
46 kabuki syndrome 1 9.9 SDC1 MCL1 IL6 CD38 ANXA5
47 x-linked recessive disease 9.9 IL6 CD34 BTK
48 localized scleroderma 9.8 TNFSF13B IL6 CD34
49 stroke, ischemic 9.8 IL6 CXCR4 CXCL12 ANXA5 AKT1
50 pancreatic adenocarcinoma 9.8 STAT3 IL6 CXCL12 AKT1

Graphical network of the top 20 diseases related to Spherocytosis, Type 5:



Diseases related to Spherocytosis, Type 5

Symptoms & Phenotypes for Spherocytosis, Type 5

Human phenotypes related to Spherocytosis, Type 5:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 jaundice 31 very rare (1%) HP:0000952
3 reticulocytosis 31 very rare (1%) HP:0001923
4 hemolytic anemia 31 HP:0001878
5 spherocytosis 31 HP:0004444
6 increased red cell osmotic fragility 31 HP:0005502

Clinical features from OMIM®:

612690 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spherocytosis, Type 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 AKT1 ANXA5 BTK CD34 CD38 CXCL12
2 cellular MP:0005384 10.06 AKT1 BTK CD34 CD38 CXCL12 CXCR4
3 immune system MP:0005387 10 AKT1 ANXA5 BTK CD34 CD38 CXCL12
4 integument MP:0010771 9.61 AKT1 BTK CD34 CXCR4 FN1 IL6
5 neoplasm MP:0002006 9.23 AKT1 BTK CD34 CXCR4 FN1 IL6

Drugs & Therapeutics for Spherocytosis, Type 5

Search Clinical Trials , NIH Clinical Center for Spherocytosis, Type 5

Genetic Tests for Spherocytosis, Type 5

Genetic tests related to Spherocytosis, Type 5:

# Genetic test Affiliating Genes
1 Spherocytosis Type 5 29 EPB42

Anatomical Context for Spherocytosis, Type 5

Publications for Spherocytosis, Type 5

Articles related to Spherocytosis, Type 5:

(show all 13)
# Title Authors PMID Year
1
A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 6 57
7772513 1995
2
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. 57 6
7803799 1995
3
An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 57 6
1558976 1992
4
A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings. 57 6
2386772 1990
5
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. 6
12176912 2002
6
4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. 6
10406914 1999
7
A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame). 6
8528207 1995
8
Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency. 6
8319790 1993
9
A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis. 57
2139792 1990
10
Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia. Evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane. 57
2963832 1988
11
Erythrocyte membrane of hereditary spherocytosis: alteration in surface ultrastructure and membrane proteins, as inferred by scanning electron microscopy and SDS-disc gel electrophoresis. 57
4413274 1974
12
Abnormality in a specific protein of the erythrocyte membrane in hereditary spherocytosis. 57
4830746 1974
13
Transglutaminase diseases: from biochemistry to the bedside. 61
30593123 2019

Variations for Spherocytosis, Type 5

ClinVar genetic disease variations for Spherocytosis, Type 5:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPB42 NM_000119.2(EPB42):c.922+1G>A SNV Pathogenic 13236 rs266257355 GRCh37: 15:43501471-43501471
GRCh38: 15:43209273-43209273
2 EPB42 NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) SNV Pathogenic 13237 rs115998465 GRCh37: 15:43495435-43495435
GRCh38: 15:43203237-43203237
3 EPB42 NM_000119.3(EPB42):c.950del (p.Arg317fs) Deletion Pathogenic 132636 rs515726213 GRCh37: 15:43500946-43500946
GRCh38: 15:43208748-43208748
4 EPB42 NM_000119.2(EPB42):c.265delG (p.Val89Trpfs) Deletion Pathogenic 13234 rs266257354 GRCh37: 15:43508487-43508487
GRCh38: 15:43216289-43216289
5 EPB42 NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) SNV Pathogenic 13235 rs121917734 GRCh37: 15:43500967-43500967
GRCh38: 15:43208769-43208769
6 EPB42 NM_000119.3(EPB42):c.523G>T (p.Asp175Tyr) SNV Pathogenic 132633 rs143682977 GRCh37: 15:43503730-43503730
GRCh38: 15:43211532-43211532
7 EPB42 NM_000119.3(EPB42):c.920C>T (p.Thr307Ile) SNV Pathogenic 132634 rs515726211 GRCh37: 15:43501474-43501474
GRCh38: 15:43209276-43209276
8 EPB42 NM_000119.3(EPB42):c.949C>T (p.Arg317Cys) SNV Pathogenic 132635 rs515726212 GRCh37: 15:43500947-43500947
GRCh38: 15:43208749-43208749
9 EPB42 NM_000119.3(EPB42):c.100+1G>A SNV Conflicting interpretations of pathogenicity 316028 rs150530456 GRCh37: 15:43512923-43512923
GRCh38: 15:43220725-43220725
10 EPB42 NM_000119.3(EPB42):c.520+12C>T SNV Conflicting interpretations of pathogenicity 316022 rs185794093 GRCh37: 15:43507281-43507281
GRCh38: 15:43215083-43215083
11 EPB42 NM_000119.3(EPB42):c.1477G>A (p.Gly493Ser) SNV Uncertain significance 807229 rs148871144 GRCh37: 15:43498759-43498759
GRCh38: 15:43206561-43206561
12 EPB42 NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) SNV Uncertain significance 13233 rs104894487 GRCh37: 15:43507389-43507389
GRCh38: 15:43215191-43215191
13 EPB42 NM_000119.3(EPB42):c.1097G>A (p.Arg366Gln) SNV Uncertain significance 811439 rs374503872 GRCh37: 15:43500496-43500496
GRCh38: 15:43208298-43208298
14 EPB42 NM_001114134.2(EPB42):c.860G>A (p.Arg287His) SNV Uncertain significance 887581 GRCh37: 15:43500946-43500946
GRCh38: 15:43208748-43208748
15 EPB42 NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) SNV Uncertain significance 887393 GRCh37: 15:43500462-43500462
GRCh38: 15:43208264-43208264
16 EPB42 NM_001114134.2(EPB42):c.1075+14G>A SNV Uncertain significance 887392 GRCh37: 15:43500414-43500414
GRCh38: 15:43208216-43208216
17 EPB42 NM_001114134.2(EPB42):c.1173C>T (p.Ala391=) SNV Uncertain significance 887391 GRCh37: 15:43499542-43499542
GRCh38: 15:43207344-43207344
18 EPB42 NM_001114134.2(EPB42):c.1244G>C (p.Gly415Ala) SNV Uncertain significance 887390 GRCh37: 15:43499471-43499471
GRCh38: 15:43207273-43207273
19 EPB42 NM_001114134.2(EPB42):c.1318+3A>G SNV Uncertain significance 886393 GRCh37: 15:43499394-43499394
GRCh38: 15:43207196-43207196
20 EPB42 NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) SNV Uncertain significance 886392 GRCh37: 15:43498544-43498544
GRCh38: 15:43206346-43206346
21 EPB42 NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser) SNV Uncertain significance 886391 GRCh37: 15:43495456-43495456
GRCh38: 15:43203258-43203258
22 EPB42 NM_000119.3(EPB42):c.1699G>A (p.Ala567Thr) SNV Uncertain significance 132637 rs45495503 GRCh37: 15:43498537-43498537
GRCh38: 15:43206339-43206339
23 EPB42 NM_000119.3(EPB42):c.1115G>A (p.Gly372Asp) SNV Uncertain significance 316019 rs116484797 GRCh37: 15:43500478-43500478
GRCh38: 15:43208280-43208280
24 EPB42 NM_000119.3(EPB42):c.70C>T (p.Pro24Ser) SNV Uncertain significance 316029 rs144428415 GRCh37: 15:43512954-43512954
GRCh38: 15:43220756-43220756
25 EPB42 NM_000119.3(EPB42):c.1369C>T (p.Arg457Cys) SNV Uncertain significance 255148 rs45594632 GRCh37: 15:43499436-43499436
GRCh38: 15:43207238-43207238
26 EPB42 NM_000119.3(EPB42):c.543T>C (p.Asn181=) SNV Uncertain significance 255154 rs114136713 GRCh37: 15:43503710-43503710
GRCh38: 15:43211512-43211512
27 EPB42 NM_000119.3(EPB42):c.1122T>C (p.Asp374=) SNV Uncertain significance 255147 rs150481419 GRCh37: 15:43500471-43500471
GRCh38: 15:43208273-43208273
28 EPB42 NM_000119.3(EPB42):c.89G>A (p.Ser30Asn) SNV Uncertain significance 255156 rs149249456 GRCh37: 15:43512935-43512935
GRCh38: 15:43220737-43220737
29 EPB42 NM_000119.3(EPB42):c.984C>T (p.Thr328=) SNV Uncertain significance 255158 rs35719500 GRCh37: 15:43500912-43500912
GRCh38: 15:43208714-43208714
30 EPB42 NC_000015.10:g.43197220C>T SNV Uncertain significance 884366 GRCh37: 15:43489418-43489418
GRCh38: 15:43197220-43197220
31 EPB42 NM_000119.3(EPB42):c.1857C>A (p.His619Gln) SNV Uncertain significance 316009 rs114354377 GRCh37: 15:43495325-43495325
GRCh38: 15:43203127-43203127
32 EPB42 NM_000119.3(EPB42):c.1043G>T (p.Gly348Val) SNV Uncertain significance 811114 rs143974871 GRCh37: 15:43500853-43500853
GRCh38: 15:43208655-43208655
33 EPB42 NM_000119.3(EPB42):c.1214C>T (p.Thr405Met) SNV Uncertain significance 811192 rs115972761 GRCh37: 15:43499591-43499591
GRCh38: 15:43207393-43207393
34 EPB42 NM_000119.3(EPB42):c.1622T>C (p.Ile541Thr) SNV Uncertain significance 811729 rs1190513717 GRCh37: 15:43498614-43498614
GRCh38: 15:43206416-43206416
35 EPB42 NM_000119.3(EPB42):c.286+6T>A SNV Uncertain significance 132638 rs515726214 GRCh37: 15:43508460-43508460
GRCh38: 15:43216262-43216262
36 EPB42 NM_000119.3(EPB42):c.1772del (p.Phe591fs) Deletion Uncertain significance 631729 rs775832353 GRCh37: 15:43495410-43495410
GRCh38: 15:43203212-43203212
37 EPB42 NM_000119.3(EPB42):c.443C>T (p.Ser148Leu) SNV Uncertain significance 316023 rs200509497 GRCh37: 15:43507370-43507370
GRCh38: 15:43215172-43215172
38 EPB42 NM_000119.3(EPB42):c.802G>C (p.Glu268Gln) SNV Uncertain significance 316021 rs886051168 GRCh37: 15:43501592-43501592
GRCh38: 15:43209394-43209394
39 EPB42 NM_000119.3(EPB42):c.300C>T (p.Ser100=) SNV Uncertain significance 316025 rs180830933 GRCh37: 15:43507513-43507513
GRCh38: 15:43215315-43215315
40 EPB42 NM_000119.3(EPB42):c.1285T>C (p.Cys429Arg) SNV Uncertain significance 316015 rs751034626 GRCh37: 15:43499520-43499520
GRCh38: 15:43207322-43207322
41 EPB42 NM_000119.3(EPB42):c.991C>T (p.Arg331Cys) SNV Uncertain significance 316020 rs886051167 GRCh37: 15:43500905-43500905
GRCh38: 15:43208707-43208707
42 EPB42 NM_000119.3(EPB42):c.*21T>A SNV Uncertain significance 316006 rs201342599 GRCh37: 15:43489479-43489479
GRCh38: 15:43197281-43197281
43 EPB42 NM_000119.3(EPB42):c.436C>T (p.His146Tyr) SNV Uncertain significance 316024 rs886051169 GRCh37: 15:43507377-43507377
GRCh38: 15:43215179-43215179
44 EPB42 NM_000119.3(EPB42):c.1476C>T (p.Asn492=) SNV Uncertain significance 316012 rs199505318 GRCh37: 15:43498760-43498760
GRCh38: 15:43206562-43206562
45 EPB42 NM_000119.3(EPB42):c.1355G>T (p.Gly452Val) SNV Uncertain significance 316013 rs538781293 GRCh37: 15:43499450-43499450
GRCh38: 15:43207252-43207252
46 EPB42 NM_000119.3(EPB42):c.267G>A (p.Val89=) SNV Uncertain significance 316026 rs370961712 GRCh37: 15:43508485-43508485
GRCh38: 15:43216287-43216287
47 EPB42 NM_000119.3(EPB42):c.1255A>C (p.Ile419Leu) SNV Uncertain significance 316016 rs141596199 GRCh37: 15:43499550-43499550
GRCh38: 15:43207352-43207352
48 EPB42 NM_000119.3(EPB42):c.100+7G>A SNV Uncertain significance 316027 rs372291145 GRCh37: 15:43512917-43512917
GRCh38: 15:43220719-43220719
49 EPB42 NM_000119.3(EPB42):c.2122A>G (p.Asn708Asp) SNV Uncertain significance 316007 rs201674874 GRCh37: 15:43489544-43489544
GRCh38: 15:43197346-43197346
50 EPB42 NM_000119.3(EPB42):c.1751G>A (p.Arg584Gln) SNV Uncertain significance 316010 rs150037117 GRCh37: 15:43495431-43495431
GRCh38: 15:43203233-43203233

UniProtKB/Swiss-Prot genetic disease variations for Spherocytosis, Type 5:

72
# Symbol AA change Variation ID SNP ID
1 EPB42 p.Ala112Thr VAR_007482 rs104894487
2 EPB42 p.Arg280Gln VAR_012268 rs121917734
3 EPB42 p.Asp145Tyr VAR_058099 rs143682977
4 EPB42 p.Arg287Cys VAR_058100 rs515726212

Expression for Spherocytosis, Type 5

Search GEO for disease gene expression data for Spherocytosis, Type 5.

Pathways for Spherocytosis, Type 5

Pathways related to Spherocytosis, Type 5 according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 TNFSF13B STAT3 IL6 CXCR4 CXCL12 BTK
2
Show member pathways
13.25 TNFSF13B STAT3 RPS27A MCL1 IL6 FN1
3
Show member pathways
12.98 TNFSF13B IL6 FN1 CXCR4 BTK AKT1
4
Show member pathways
12.8 STAT3 RPS27A IL6 CXCR4 CXCL12 AKT1
5
Show member pathways
12.72 FN1 CXCR4 CXCL12 BTK AKT1
6 12.71 STAT3 IL6 FN1 CXCR4 CXCL12 AKT1
7 12.19 STAT3 SDC1 FN1 AKT1
8
Show member pathways
12.03 STAT3 MCL1 IL6 CXCR4 CXCL12 AKT1
9 11.84 SDC1 IL6 CD38 CD34
10 11.8 IL6 CD38 CD34
11
Show member pathways
11.79 STAT3 BTK AKT1
12 11.76 STAT3 IL6 FN1 AKT1
13 11.75 TNFSF13B IL6 CXCL12
14 11.71 SDC1 IL6 FN1 CD34
15 11.68 TNFSF13B STAT3 CXCR4 CXCL12 CD38 CD34
16
Show member pathways
11.64 STAT3 MCL1 IL6 AKT1
17 11.63 IL6 CD38 CD34
18 11.55 STAT3 CXCR4 CXCL12 AKT1
19 11.45 STAT3 IL6 AKT1
20 11.44 MCL1 CXCR4 CXCL12 AKT1
21 11.41 STAT3 MCL1 IL6 FN1 AKT1
22 11.4 IL6 FN1 AKT1
23 11.38 SDC1 FN1 AKT1
24 11.23 STAT3 IL6 BTK AKT1
25 11.16 FN1 CXCR4 CXCL12
26 10.91 TNFSF13B IL6 FN1 CXCL12 BTK

GO Terms for Spherocytosis, Type 5

Cellular components related to Spherocytosis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.44 TNFSF13B STAT3 SDC1 RPS27A PCDHB8 EPB42

Biological processes related to Spherocytosis, Type 5 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.15 TNFSF13B STAT3 IL6 CXCR4 CXCL12 CD38
2 positive regulation of gene expression GO:0010628 9.99 STAT3 IL6 FN1 CD34 AKT1
3 inflammatory response GO:0006954 9.92 STAT3 SDC1 IL6 CXCR4 AKT1
4 positive regulation of cell proliferation GO:0008284 9.85 STAT3 IL6 FN1 CXCL12 CD38 AKT1
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.76 STAT3 RPS27A IL6 BTK
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.74 RPS27A BTK AKT1
7 negative regulation of neuron death GO:1901215 9.73 STAT3 CD34 AKT1
8 negative regulation of apoptotic process GO:0043066 9.73 RPS27A MCL1 IL6 CD38 ANXA5 AKT1
9 response to cytokine GO:0034097 9.71 STAT3 MCL1 CD38
10 negative regulation of autophagy GO:0010507 9.65 STAT3 MCL1 AKT1
11 acute-phase response GO:0006953 9.61 STAT3 IL6 FN1
12 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.6 CXCR4 CXCL12
13 regulation of response to DNA damage stimulus GO:2001020 9.58 MCL1 ARMT1
14 integrin activation GO:0033622 9.58 FN1 CXCL12
15 positive regulation of interleukin-10 production GO:0032733 9.58 STAT3 IL6 CD34
16 T-helper 17 cell lineage commitment GO:0072540 9.55 STAT3 IL6
17 telencephalon cell migration GO:0022029 9.51 CXCR4 CXCL12
18 negative regulation of primary miRNA processing GO:2000635 9.32 STAT3 IL6
19 response to organic substance GO:0010033 9.26 STAT3 SDC1 BTK AKT1
20 cytokine-mediated signaling pathway GO:0019221 9.17 STAT3 SDC1 RPS27A MCL1 IL6 FN1
21 response to ultrasound GO:1990478 9.16 CXCR4 CXCL12

Molecular functions related to Spherocytosis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.28 ZNF792 STAT3 SDC1 PCDHB8 FN1 CXCR4
2 phosphatidylinositol-3,4,5-trisphosphate binding GO:0005547 9.13 BTK ANXA8 AKT1

Sources for Spherocytosis, Type 5

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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