SCN4
MCID: SVR110
MIFTS: 39

Severe Congenital Neutropenia 4 (SCN4)

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Severe Congenital Neutropenia 4

MalaCards integrated aliases for Severe Congenital Neutropenia 4:

Name: Severe Congenital Neutropenia 4 11 14
Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency 11 58 28 5
Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome 11 58
Scn4 11 58
Severe Congenital Neutropenia Type 4 58
Dursun Syndrome 11

Characteristics:


Inheritance:

Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency: Autosomal recessive 58

Prevelance:

Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:0112136
ICD10 via Orphanet 32 D70
UMLS via Orphanet 72 C2675526
Orphanet 58 ORPHA331176

Summaries for Severe Congenital Neutropenia 4

Orphanet: 58 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.

MalaCards based summary: Severe Congenital Neutropenia 4, also known as autosomal recessive severe congenital neutropenia due to g6pc3 deficiency, is related to glycogen storage disease and severe congenital neutropenia. An important gene associated with Severe Congenital Neutropenia 4 is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glycolysis (REACTOME). Affiliated tissues include bone marrow, bone and cardiac myocytes, and related phenotypes are liver/biliary system and growth/size/body region

Disease Ontology: 11 A severe congenital neutropenia that has material basis in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31.

Related Diseases for Severe Congenital Neutropenia 4

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7 Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2 Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3 Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8 Severe Congenital Neutropenia 4
Elane-Related Neutropenia Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Severe Congenital Neutropenia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 29.9 SLC37A4 SLC37A1 G6PC3 G6PC1
2 severe congenital neutropenia 29.0 SLC37A4 SBDS HAX1 G6PC3 G6PC1
3 neutropenia 29.0 SLC37A4 SBDS HAX1 G6PC3 G6PC1
4 neutropenia, severe congenital, 4, autosomal recessive 11.3
5 autosomal recessive severe congenital neutropenia 10.2 HAX1 G6PC3
6 severe congenital neutropenia 7 10.1 HAX1 G6PC3
7 poikiloderma with neutropenia 10.1 HAX1 G6PC3
8 glycogen storage disease iii 10.1 SLC37A4 G6PC1
9 whim syndrome 1 10.1 HAX1 G6PC3
10 liver benign neoplasm 10.1 SLC37A4 G6PC1
11 otitis media 10.1
12 varicose veins 10.1
13 cryptorchidism, unilateral or bilateral 10.1
14 patent ductus arteriosus 1 10.1
15 inguinal hernia 10.1
16 desmoid tumor 10.1
17 patent foramen ovale 10.1
18 hypothyroidism 10.1
19 learning disability 10.1
20 cohen syndrome 10.0 HAX1 G6PC3
21 severe congenital neutropenia 5 10.0 SLC37A4 HAX1 G6PC3
22 pulmonary hypertension, primary, 1 10.0
23 pulmonary hypertension 10.0
24 heart septal defect 10.0
25 atrial heart septal defect 10.0
26 interatrial communication 10.0
27 glycerol kinase deficiency 9.9 SLC37A4 SLC37A1
28 dilution, pigmentary 9.9
29 inflammatory bowel disease 1 9.9
30 albinism, oculocutaneous, type iv 9.9
31 oculocutaneous albinism 9.9
32 crohn's disease 9.9
33 g6pc3 deficiency 9.9
34 albinism 9.9
35 glycogen storage disease ia 9.9 SLC37A4 SLC37A1 G6PC3 G6PC1
36 hepatocellular adenoma 9.8 SLC37A4 G6PC1
37 neutropenia, severe congenital, x-linked 9.8 SBDS HAX1
38 splenomegaly 9.8 SLC37A4 SBDS
39 shwachman-diamond syndrome 1 9.7 SBDS HAX1 G6PC3
40 johanson-blizzard syndrome 9.7 UBR4 SBDS
41 severe congenital neutropenia 3 9.6 SLC37A4 SBDS HAX1 G6PC3
42 autosomal dominant severe congenital neutropenia 9.6 SLC37A4 SBDS HAX1 G6PC3
43 cyclic neutropenia 9.6 SLC37A4 SBDS HAX1 G6PC3

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 4:



Diseases related to Severe Congenital Neutropenia 4

Symptoms & Phenotypes for Severe Congenital Neutropenia 4

MGI Mouse Phenotypes related to Severe Congenital Neutropenia 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.63 G6PC1 SBDS SLC20A1 SLC37A1 SLC37A4 UBR4
2 growth/size/body region MP:0005378 9.61 G6PC1 G6PC3 HAX1 MMP17 SBDS SLC20A1
3 cellular MP:0005384 9.28 ADAM2 G6PC1 HAX1 SBDS SLC20A1 SLC37A4

Drugs & Therapeutics for Severe Congenital Neutropenia 4

Search Clinical Trials, NIH Clinical Center for Severe Congenital Neutropenia 4

Genetic Tests for Severe Congenital Neutropenia 4

Genetic tests related to Severe Congenital Neutropenia 4:

# Genetic test Affiliating Genes
1 Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency 28 G6PC3

Anatomical Context for Severe Congenital Neutropenia 4

Organs/tissues related to Severe Congenital Neutropenia 4:

MalaCards : Bone Marrow, Bone, Cardiac Myocytes, Neutrophil

Publications for Severe Congenital Neutropenia 4

Articles related to Severe Congenital Neutropenia 4:

(show all 31)
# Title Authors PMID Year
1
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. 62 5
25391451 2014
2
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. 62 5
20717171 2011
3
Mutations in the G6PC3 gene cause Dursun syndrome. 62 5
20799326 2010
4
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry. 5
25491320 2014
5
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. 5
22050868 2012
6
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. 5
20616219 2010
7
A syndrome with congenital neutropenia and mutations in G6PC3. 5
19118303 2009
8
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. 5
19011569 2009
9
Desmoid tumor occurrence in a patient with severe congenital neutropenia type 4: Case history and follow-up. 62
36317554 2022
10
Empagliflozin restores neutropenia and neutrophil dysfunction in a young patient with severe congenital neutropenia type 4. 62
36309187 2022
11
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review. 62
34964150 2022
12
The GmSNAP11 Contributes to Resistance to Soybean Cyst Nematode Race 4 in Glycine max. 62
35860531 2022
13
Gene variant effects across sodium channelopathies predict function and guide precision therapy. 62
35037686 2022
14
Full-Length Transcriptional Analysis of the Same Soybean Genotype With Compatible and Incompatible Reactions to Heterodera glycines Reveals Nematode Infection Activating Plant Defense Response. 62
35665156 2022
15
[Network pharmacology study of Tibetan medicine Corydalis Herba against acute myocardial ischemia]. 62
34467696 2021
16
Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia - a case report. 62
33602114 2021
17
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature. 62
34137364 2021
18
Genome-Wide Association Study of Seed Folate Content in Common Bean. 62
34531882 2021
19
Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations. 62
34305938 2021
20
Metabolic abnormalities in G6PC3-deficient human neutrophils result in severe functional defects. 62
33259599 2020
21
Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. 62
31155258 2019
22
Effects of seasonal acclimatization on thermal tolerance of inward currents in roach (Rutilus rutilus) cardiac myocytes. 62
28942482 2018
23
A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear. 62
26808373 2016
24
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. 62
25288127 2015
25
G6PC3 Deficiency 62
25879134 2015
26
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. 62
24549407 2014
27
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. 62
23441086 2013
28
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. 62
23758768 2013
29
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. 62
23171239 2012
30
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. 62
16624558 2006
31
Stable gold(III) complexes with thiosemicarbazone derivatives. 62
15252533 2004

Variations for Severe Congenital Neutropenia 4

ClinVar genetic disease variations for Severe Congenital Neutropenia 4:

5 (show top 50) (show all 192)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 G6PC3 NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro) SNV Pathogenic
1038 rs118203969 GRCh37: 17:42152696-42152696
GRCh38: 17:44075328-44075328
2 G6PC3 NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter) SNV Pathogenic
1039 rs118203970 GRCh37: 17:42148474-42148474
GRCh38: 17:44071106-44071106
3 G6PC3 NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg) SNV Pathogenic
1040 rs118203971 GRCh37: 17:42153154-42153154
GRCh38: 17:44075786-44075786
4 G6PC3 NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) SNV Pathogenic
653016 rs745582203 GRCh37: 17:42152707-42152707
GRCh38: 17:44075339-44075339
5 G6PC3 NM_138387.4(G6PC3):c.464del (p.Leu155fs) DEL Pathogenic
935219 rs1295168770 GRCh37: 17:42152381-42152381
GRCh38: 17:44075013-44075013
6 G6PC3 NM_138387.4(G6PC3):c.218+1G>A SNV Pathogenic
1430600 GRCh37: 17:42148552-42148552
GRCh38: 17:44071184-44071184
7 G6PC3 NM_138387.4(G6PC3):c.635del (p.Leu212fs) DEL Pathogenic
1451174 GRCh37: 17:42152777-42152777
GRCh38: 17:44075409-44075409
8 G6PC3 NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) DEL Pathogenic
1342134 GRCh37: 17:42153135-42153136
GRCh38: 17:44075767-44075768
9 G6PC3 NM_138387.4(G6PC3):c.935dup (p.Asn313fs) DUP Pathogenic
189784 rs797044567 GRCh37: 17:42153301-42153302
GRCh38: 17:44075933-44075934
10 G6PC3 NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) SNV Pathogenic
189781 rs775224457 GRCh37: 17:42148463-42148463
GRCh38: 17:44071095-44071095
11 G6PC3 NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter) SNV Pathogenic
1705639 GRCh37: 17:42148477-42148477
GRCh38: 17:44071109-44071109
12 G6PC3 NM_138387.4(G6PC3):c.210del (p.Phe71fs) DEL Pathogenic
189782 rs769441127 GRCh37: 17:42148543-42148543
GRCh38: 17:44071175-44071175
13 G6PC3 NM_138387.4(G6PC3):c.758G>A (p.Arg253His) SNV Pathogenic
1037 rs118203968 GRCh37: 17:42153128-42153128
GRCh38: 17:44075760-44075760
14 G6PC3 NM_138387.4(G6PC3):c.207dup (p.Ile70fs) DUP Pathogenic
691992 rs1191239079 GRCh37: 17:42148539-42148540
GRCh38: 17:44071171-44071172
15 G6PC3 NM_138387.4(G6PC3):c.346A>G (p.Met116Val) SNV Pathogenic
1042 rs267606834 GRCh37: 17:42152068-42152068
GRCh38: 17:44074700-44074700
16 G6PC3 NM_138387.4(G6PC3):c.199_218+1del DEL Pathogenic
691994 rs1597905369 GRCh37: 17:42148527-42148547
GRCh38: 17:44071159-44071179
17 G6PC3 NM_138387.4(G6PC3):c.677+1G>A SNV Likely Pathogenic
1066709 GRCh37: 17:42152820-42152820
GRCh38: 17:44075452-44075452
18 G6PC3 NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) SNV Likely Pathogenic
1339525 GRCh37: 17:42152059-42152059
GRCh38: 17:44074691-44074691
19 G6PC3 NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) SNV Likely Pathogenic
632283 rs1194477276 GRCh37: 17:42148477-42148477
GRCh38: 17:44071109-44071109
20 G6PC3 NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) SNV Conflicting Interpretations Of Pathogenicity
262367 rs140294222 GRCh37: 17:42152708-42152708
GRCh38: 17:44075340-44075340
21 G6PC3 NM_138387.4(G6PC3):c.201C>T (p.Leu67=) SNV Conflicting Interpretations Of Pathogenicity
323461 rs375273894 GRCh37: 17:42148534-42148534
GRCh38: 17:44071166-44071166
22 G6PC3 NM_138387.4(G6PC3):c.687C>T (p.Ser229=) SNV Conflicting Interpretations Of Pathogenicity
734136 rs377343204 GRCh37: 17:42153057-42153057
GRCh38: 17:44075689-44075689
23 G6PC3 NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) SNV Conflicting Interpretations Of Pathogenicity
30874 rs200478425 GRCh37: 17:42153148-42153148
GRCh38: 17:44075780-44075780
24 G6PC3 NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp) SNV Uncertain Significance
1717434 GRCh37: 17:42148475-42148475
GRCh38: 17:44071107-44071107
25 G6PC3 NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser) SNV Uncertain Significance
1715418 GRCh37: 17:42148536-42148536
GRCh38: 17:44071168-44071168
26 G6PC3 NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) SNV Uncertain Significance
847646 rs148030756 GRCh37: 17:42152404-42152404
GRCh38: 17:44075036-44075036
27 G6PC3 NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) SNV Uncertain Significance
960968 rs765927570 GRCh37: 17:42153127-42153127
GRCh38: 17:44075759-44075759
28 G6PC3 NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) SNV Uncertain Significance
1384667 GRCh37: 17:42151609-42151609
GRCh38: 17:44074241-44074241
29 G6PC3 NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) SNV Uncertain Significance
1402926 GRCh37: 17:42148517-42148517
GRCh38: 17:44071149-44071149
30 G6PC3 NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr) SNV Uncertain Significance
576699 rs375162061 GRCh37: 17:42148383-42148383
GRCh38: 17:44071015-44071015
31 G6PC3 NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) SNV Uncertain Significance
1163100 GRCh37: 17:42153179-42153179
GRCh38: 17:44075811-44075811
32 G6PC3 NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) SNV Uncertain Significance
1336708 GRCh37: 17:42153400-42153400
GRCh38: 17:44076032-44076032
33 G6PC3 NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) SNV Uncertain Significance
1385278 GRCh37: 17:42153280-42153280
GRCh38: 17:44075912-44075912
34 G6PC3 NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) SNV Uncertain Significance
1308391 GRCh37: 17:42152785-42152785
GRCh38: 17:44075417-44075417
35 G6PC3 NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) SNV Uncertain Significance
1362301 GRCh37: 17:42148419-42148419
GRCh38: 17:44071051-44071051
36 G6PC3 NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) SNV Uncertain Significance
1439836 GRCh37: 17:42152134-42152134
GRCh38: 17:44074766-44074766
37 G6PC3 NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) SNV Uncertain Significance
1465199 GRCh37: 17:42153102-42153102
GRCh38: 17:44075734-44075734
38 G6PC3 NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) SNV Uncertain Significance
1469571 GRCh37: 17:42153101-42153101
GRCh38: 17:44075733-44075733
39 G6PC3 NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) SNV Uncertain Significance
1470969 GRCh37: 17:42152080-42152080
GRCh38: 17:44074712-44074712
40 G6PC3 NM_138387.4(G6PC3):c.536-4C>G SNV Uncertain Significance
1473263 GRCh37: 17:42152674-42152674
GRCh38: 17:44075306-44075306
41 G6PC3 NM_138387.4(G6PC3):c.806_808del (p.Cys269del) DEL Uncertain Significance
1492675 GRCh37: 17:42153174-42153176
GRCh38: 17:44075806-44075808
42 G6PC3 NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) SNV Uncertain Significance
1470804 GRCh37: 17:42153307-42153307
GRCh38: 17:44075939-44075939
43 G6PC3 NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) SNV Uncertain Significance
1472871 GRCh37: 17:42153106-42153106
GRCh38: 17:44075738-44075738
44 G6PC3 NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) SNV Uncertain Significance
1480794 GRCh37: 17:42148478-42148478
GRCh38: 17:44071110-44071110
45 G6PC3 NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) SNV Uncertain Significance
1504493 GRCh37: 17:42153080-42153080
GRCh38: 17:44075712-44075712
46 G6PC3 NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) SNV Uncertain Significance
1504772 GRCh37: 17:42148389-42148389
GRCh38: 17:44071021-44071021
47 G6PC3 NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) SNV Uncertain Significance
1514976 GRCh37: 17:42148431-42148431
GRCh38: 17:44071063-44071063
48 G6PC3 NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) SNV Uncertain Significance
1515006 GRCh37: 17:42148443-42148443
GRCh38: 17:44071075-44071075
49 G6PC3 NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) SNV Uncertain Significance
850327 rs765872526 GRCh37: 17:42153194-42153194
GRCh38: 17:44075826-44075826
50 G6PC3 NM_138387.4(G6PC3):c.908C>A (p.Pro303His) SNV Uncertain Significance
851336 rs776556492 GRCh37: 17:42153278-42153278
GRCh38: 17:44075910-44075910

Expression for Severe Congenital Neutropenia 4

Search GEO for disease gene expression data for Severe Congenital Neutropenia 4.

Pathways for Severe Congenital Neutropenia 4

GO Terms for Severe Congenital Neutropenia 4

Cellular components related to Severe Congenital Neutropenia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.66 UNC5D UBR4 SLC37A4 SLC37A1 SLC20A1 G6PC3
2 membrane GO:0016021 9.66 UNC5D UBR4 SLC37A4 SLC37A1 SLC20A1 G6PC3

Biological processes related to Severe Congenital Neutropenia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.63 SLC37A4 G6PC3 G6PC1
2 triglyceride metabolic process GO:0006641 9.61 SLC37A4 G6PC1
3 glycogen metabolic process GO:0005977 9.58 G6PC1 SLC37A4
4 glucose 6-phosphate metabolic process GO:0051156 9.56 G6PC3 G6PC1
5 carbohydrate transport GO:0008643 9.54 SLC37A4 SLC37A1
6 phosphate-containing compound metabolic process GO:0006796 9.5 SLC20A1 G6PC3
7 phosphate ion transmembrane transport GO:0035435 9.35 SLC37A4 SLC37A1 SLC20A1
8 glucose-6-phosphate transport GO:0015760 9.23 SLC37A4 SLC37A1 G6PC3 G6PC1

Molecular functions related to Severe Congenital Neutropenia 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose 6-phosphate:inorganic phosphate antiporter activity GO:0061513 9.26 SLC37A4 SLC37A1
2 glucose-6-phosphatase activity GO:0004346 8.92 G6PC3 G6PC1

Sources for Severe Congenital Neutropenia 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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