Neutropenia, Severe Congenital, 5, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 5, Autosomal Recessive ⁵⁷ ⁷³

Severe Congenital Neutropenia 5, Autosomal Recessive ²⁹ ⁶

Scn5 ⁵⁷ ⁷⁵

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome ⁵⁹

Neutropenia, Congenital, Severe, Type 5, Autosomal Recessive ⁴⁰

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome ⁵⁹

Neutropenia, Severe Congenital 5, Autosomal Recessive ⁷⁵

Vps45 Deficiency ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

congenital neutropenia-myelofibrosis-nephromegaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death from infection may occur

HPO:

³²

neutropenia, severe congenital, 5, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Agranulocytosis

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 615285

Orphanet ⁵⁹ ORPHA369852

ICD10 via Orphanet ³⁴ D70

MedGen ⁴² C3809031 CN177969

MeSH ⁴⁴ D007153 D009503

SNOMED-CT via HPO ⁶⁹ 258211005 224958001 36440009 more

UMLS ⁷³ C3809031

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Summaries for Neutropenia, Severe Congenital, 5, Autosomal Recessive

OMIM : ⁵⁷ Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). (615285)

MalaCards based summary : Neutropenia, Severe Congenital, 5, Autosomal Recessive, is also known as severe congenital neutropenia 5, autosomal recessive. An important gene associated with Neutropenia, Severe Congenital, 5, Autosomal Recessive is VPS45 (Vacuolar Protein Sorting 45 Homolog). The drugs Ajmaline and Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and neutrophil, and related phenotypes are failure to thrive and global developmental delay

UniProtKB/Swiss-Prot : ⁷⁵ Neutropenia, severe congenital 5, autosomal recessive: An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.

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Related Diseases for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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
Severe Congenital Neutropenia	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

AbdomenSpleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
extramedullary hematopoiesis
nucleated red cells in peripheral blood
bone marrow fibrosis
more

Growth Weight:
poor weight gain

Neurologic Central Nervous System:
delayed psychomotor development (in 1 family)

Abdomen Liver:
hepatomegaly

Immunology:
neutropenia
leukopenia
hypergammaglobulinemia
recurrent infections, bacterial and fungal
neutrophil dysfunction

Genitourinary Kidneys:
enlarged kidneys due to extramedullary hematopoiesis

Clinical features from OMIM:

615285

Human phenotypes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

³² (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	failure to thrive ³²		HP:0001508
2	global developmental delay ³²	occasional (7.5%)	HP:0001263
3	splenomegaly ³²		HP:0001744
4	hepatomegaly ³²		HP:0002240
5	anemia ³²		HP:0001903
6	thrombocytopenia ³²		HP:0001873
7	neutropenia ³²		HP:0001875
8	increased antibody level in blood ³²		HP:0010702
9	leukopenia ³²		HP:0001882
10	extramedullary hematopoiesis ³²		HP:0001978

Sources

Drugs & Therapeutics for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Drugs for Neutropenia, Severe Congenital, 5, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Ajmaline

Approved, Investigational, Nutraceutical

Phase 2

4360-12-7

441080

2

Anti-Arrhythmia Agents

Phase 2,Phase 1

3

Diuretics, Potassium Sparing

Phase 2,Phase 1

4

Sodium Channel Blockers

Phase 2,Phase 1

5

Lorajmine

Phase 2

6

Mexiletine

Approved, Investigational

Phase 1

31828-71-4

4178

Synonyms:

(+-)-1-(2,6-dimethylphenoxy)propan-2-amine

(+-)-1-(2,6-Dimethylphenoxy)propan-2-amine

(2Rs)-1-(2,6-Dimethylphenoxy)-2-aminopropane

(2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane

1-(2',6'-Dimethylphenoxy)-2-aminopropane

1-(2,6-Dimethylphenoxy)-2-propanamine

1-(2,6-dimethylphenoxy)propan-2-amine

1-methyl-2-(2,6-xylyloxy)ethanamine

1-Methyl-2-(2,6-xylyloxy)ethanamine

1-Methyl-2-(2,6-xylyloxy)ethylamine

2-(2-aminopropoxy)-1,3-dimethylbenzene

2-(2-Aminopropoxy)-1,3-DiMethyl-Benzene Hydrochloride

31828-71-4

5370-01-4 (hydrochloride)

AB00053683

AC1L1HL7

AC1Q2BC5

AC1Q2BC6

Boehringer ingelheim brand OF mexiletine hydrochloride

BPBio1_000026

BRD-A64092382-003-04-3

BRN 2092205

BSPBio_000022

BSPBio_002254

C07220

CHEBI:115958

CHEBI:6916

CHEMBL558

CID4178

D08215

DB00379

DivK1c_000834

EINECS 250-825-7

I01-6374

IDI1_000834

KBio1_000834

KBio2_002082

KBio2_004650

KBio2_007218

KBio3_001474

KBioGR_001270

KBioSS_002082

KO1173

KO-1173

KOE-1173

Lopac0_000784

LS-68257

Mexiletene

Mexiletina

Mexiletina [INN-Spanish]

Mexiletine

Mexilétine

Mexiletine (INN)

Mexiletine [INN:BAN]

Mexiletine HCL

Mexiletine hydrochloride

Mexiletinum

Mexiletinum [INN-Latin]

Mexilitine

Mexitil

Mexitil PL

Mexityl

MolPort-001-790-944

NCGC00015659-04

NCGC00162253-01

NCGC00162253-02

NINDS_000834

novo Mexiletine

novo-Mexiletine

Novopharm brand OF mexiletine hydrochloride

Prestwick0_000241

Prestwick1_000241

Prestwick2_000241

Prestwick3_000241

SBB070242

SPBio_002241

Spectrum_001602

Spectrum3_000727

Spectrum4_000795

Spectrum5_001279

UNII-1U511HHV4Z

7

Cola

Nutraceutical

Phase 1

8

Digoxin

Approved

20830-75-5

30322 2724385

Synonyms:

(3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide

0B9662A7-264E-4ACD-94B2-9E1138C0CA5A

12beta-Hydroxydigitoxin

12b-Hydroxydigitoxin

12β-hydroxydigitoxin

20830-75-5

3-[(3S,5R,8R,9S,10S,12R,13S,14S,17R)-3-[(2R,4S,5S,6R)-5-[(2S,4S,5S,6R)-5-[(2S,4S,5S,6R)-4,5-dihydroxy-6-methyloxan-2-yl]oxy-4-hydroxy-6-methyloxan-2-yl]oxy-4-hydroxy-6-methyloxan-2-yl]oxy-12,14-dihydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-2H-furan-5-one

4-[(1S,2S,5S,7R,10R,11S,14R,15S,16R)-5-{[(2R,4S,5S,6R)-5-{[(2S,4S,5S,6R)-5-{[(2S,4S,5S,6R)-4,5-dihydroxy-6-methyloxan-2-yl]oxy}-4-hydroxy-6-methyloxan-2-yl]oxy}-4-hydroxy-6-methyloxan-2-yl]oxy}-11,16-dihydroxy-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^

4-[(3S,5R,8R,9S,10S,12R,13S,14S)-3-[(2S,4S,5R,6R)-5-[(2S,4S,5R,6R)-5-[(2S,4S,5R,6R)-4,5-dihydroxy-6-methyl-oxan-2-yl]oxy-4-hydroxy-6-methyl-oxan-2-yl]oxy-4-hydroxy-6-methyl-oxan-2-yl]oxy-12,14-dihydroxy-10,13-dimethyl-1,2,3,4,5,6,7,8,9,11,12,15,16,17-tetradecahydrocyclopenta[a]phenanthren-17-yl]-5H-furan-2-one

AC1MC4TN

AC1Q29PT

AWD.pharma brand OF digoxin

Bertek brand OF digoxin

BIDD:PXR0148

Boehringer, digoxina

BPBio1_000500

BRD-K23478508-001-03-7

BSPBio_000454

C06956

Cardoxin

CHEBI:4551

CHEMBL1751

CID2724385

Cogoxin

Cordioxil

D00298

D1828

D6003_FLUKA

D6003_SIGMA

D6770_SIGMA

Davoxin

Digacin

Digazolan

Digitalis glycoside

Digitalis Glycoside

Digitek

Digitekt

Digoregen

Digossina

digoxin

Digoxin

Digoxin (JP15/USP)

Digoxin pediatric

Digoxin Pediatric

Digoxina

Digoxina boehringer

Digoxine

Digoxine nativelle

Digoxinum

Dilanacin

Dixina

Dokim

Dynamos

Eudigox

glaxo Wellcome brand OF digoxin

GlaxoSmithKline brand 1 OF digoxin

GlaxoSmithKline brand 2 OF digoxin

Hemigoxine nativelle

HMS1569G16

Homolle's Digitalin

Homolle'S digitalin

Kern brand OF digoxin

Lanacordin

Lanacrist

Lanadicor

Lanicor

Lanoxicaps

Lanoxicaps (TN)

Lanoxin

Lanoxin (TN)

Lanoxin PG

Lanoxin-PG

Lenoxicaps

Lenoxin

Lilly brand OF digoxin

Longdigox

Mapluxin

MLS000069819

MLS001055371

MLS001076495

MolPort-002-536-760

Nativelle, digoxine

Nativelle, hemigoxine

NCGC00090797-01

NCGC00090797-02

NCGC00090797-03

NCGC00090797-04

nchembio.476-comp8

Neodioxanin

neo-Lanicor

Neo-Lanicor

Novartis brand OF digoxin

Prestwick_170

Prestwick0_000437

Prestwick1_000437

Prestwick2_000437

Prestwick3_000437

Proctor and gamble brand OF digoxin

R.A.N. brand OF digoxin

Roche brand OF digoxin

Rougoxin

SK-Digoxin

SMR000059217

SMR000653537

SPBio_002393

SR-01000721866-3

ST069334

Stillacor

STOCK1N-70146

Teofarma brand OF digoxin

UDL brand OF digoxin

Vanoxin

virco Brand OF digoxin

9

Protective Agents

Interventional clinical trials:

(show all 11)

#	Name	Status	NCT ID	Phase	Drugs
1	The Response To Ajmaline Provocation in Healthy Subjects	Recruiting	NCT02933437	Phase 2	Ajmaline
2	Effects of Mexiletine on Colonic Transit in a Patient With Irritable Bowel Syndrome - Constipation (IBS-C)	Completed	NCT01717404	Phase 1	Mexiletine
3	Role of SNP and DIGOXIN Response in Atrial Fibrillation Patients	Unknown status	NCT02167165		Digoxin
4	Identification of Gene Polymorphism in Patients With Sick Sinus Syndrome in Chinese Population in Taiwan	Unknown status	NCT00314223
5	Sodium Channel Splicing in Heart Failure Trial	Completed	NCT01185587
6	Sodium Channel Splicing in Obstructive Sleep Apnea (SOCS-OSA)	Completed	NCT02725632	Not Applicable
7	Genetic Determinants of Sudden Cardiac Death	Completed	NCT00064558
8	Sodium Channel Splicing in Heart Failure Trial (SOCS-HEFT) Prospective Study	Recruiting	NCT02738749	Not Applicable
9	Worm Study: Modifier Genes in Sudden Cardiac Death	Recruiting	NCT02014961	Not Applicable
10	Prospective Identification of Long QT Syndrome in Fetal Life	Recruiting	NCT02876380
11	Na+ Channel mRNA Regulation in Heart Failure	Active, not recruiting	NCT03313882

Search NIH Clinical Center for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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Genetic Tests for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genetic tests related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Severe Congenital Neutropenia 5, Autosomal Recessive ²⁹	VPS45

Sources

Anatomical Context for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁴¹

Bone, Bone Marrow, Neutrophil, Heart, Kidney, Colon

Sources

Publications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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Genes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	1678.18	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23738510 23599270

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Variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	VPS45	p.Thr224Asn	VAR_069865	rs879255237
2	VPS45	p.Glu238Lys	VAR_069866	rs782269909

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁶

(show all 30)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	VPS45	NM_007259.4(VPS45): c.671C> A (p.Thr224Asn)	single nucleotide variant	Pathogenic	rs879255237	GRCh37	Chromosome 1, 150049841: 150049841
2	VPS45	NM_007259.4(VPS45): c.671C> A (p.Thr224Asn)	single nucleotide variant	Pathogenic	rs879255237	GRCh38	Chromosome 1, 150077763: 150077763
3	VPS45	NM_007259.4(VPS45): c.712G> A (p.Glu238Lys)	single nucleotide variant	Pathogenic	rs782269909	GRCh37	Chromosome 1, 150053448: 150053448
4	VPS45	NM_007259.4(VPS45): c.712G> A (p.Glu238Lys)	single nucleotide variant	Pathogenic	rs782269909	GRCh38	Chromosome 1, 150081366: 150081366
5	VPS45	NM_007259.4(VPS45): c.290-10T> C	single nucleotide variant	Benign/Likely benign	rs192850081	GRCh37	Chromosome 1, 150048301: 150048301
6	VPS45	NM_007259.4(VPS45): c.290-10T> C	single nucleotide variant	Benign/Likely benign	rs192850081	GRCh38	Chromosome 1, 150076223: 150076223
7	VPS45	NM_007259.4(VPS45): c.318C> T (p.Asp106=)	single nucleotide variant	Benign/Likely benign	rs150076399	GRCh38	Chromosome 1, 150076261: 150076261
8	VPS45	NM_007259.4(VPS45): c.318C> T (p.Asp106=)	single nucleotide variant	Benign/Likely benign	rs150076399	GRCh37	Chromosome 1, 150048339: 150048339
9	VPS45	NM_007259.4(VPS45): c.614G> A (p.Arg205His)	single nucleotide variant	Uncertain significance	rs146660821	GRCh37	Chromosome 1, 150049784: 150049784
10	VPS45	NM_007259.4(VPS45): c.614G> A (p.Arg205His)	single nucleotide variant	Uncertain significance	rs146660821	GRCh38	Chromosome 1, 150077706: 150077706
11	VPS45	NM_007259.4(VPS45): c.1032A> G (p.Glu344=)	single nucleotide variant	Benign	rs74127419	GRCh38	Chromosome 1, 150082811: 150082811
12	VPS45	NM_007259.4(VPS45): c.1032A> G (p.Glu344=)	single nucleotide variant	Benign	rs74127419	GRCh37	Chromosome 1, 150054895: 150054895
13	VPS45	NM_007259.4(VPS45): c.246T> G (p.Ile82Met)	single nucleotide variant	Benign	rs62622370	GRCh38	Chromosome 1, 150072183: 150072183
14	VPS45	NM_007259.4(VPS45): c.246T> G (p.Ile82Met)	single nucleotide variant	Benign	rs62622370	GRCh37	Chromosome 1, 150044250: 150044250
15	VPS45	NM_007259.4(VPS45): c.718C> G (p.Leu240Val)	single nucleotide variant	Uncertain significance	rs587716374	GRCh38	Chromosome 1, 150081372: 150081372
16	VPS45	NM_007259.4(VPS45): c.718C> G (p.Leu240Val)	single nucleotide variant	Uncertain significance	rs587716374	GRCh37	Chromosome 1, 150053454: 150053454
17	VPS45	NM_007259.5(VPS45): c.299A> G (p.Asn100Ser)	single nucleotide variant	Uncertain significance	rs139341274	GRCh37	Chromosome 1, 150048320: 150048320
18	VPS45	NM_007259.5(VPS45): c.299A> G (p.Asn100Ser)	single nucleotide variant	Uncertain significance	rs139341274	GRCh38	Chromosome 1, 150076242: 150076242
19	VPS45	NM_007259.5(VPS45): c.1442G> A (p.Arg481Lys)	single nucleotide variant	Uncertain significance	rs151292369	GRCh38	Chromosome 1, 150093597: 150093597
20	VPS45	NM_007259.5(VPS45): c.1442G> A (p.Arg481Lys)	single nucleotide variant	Uncertain significance	rs151292369	GRCh37	Chromosome 1, 150065693: 150065693
21	VPS45	NM_007259.5(VPS45): c.126G> A (p.Ser42=)	single nucleotide variant	Benign	rs148944527	GRCh38	Chromosome 1, 150068662: 150068662
22	VPS45	NM_007259.5(VPS45): c.126G> A (p.Ser42=)	single nucleotide variant	Benign	rs148944527	GRCh37	Chromosome 1, 150040719: 150040719
23	VPS45	NM_007259.5(VPS45): c.514T> C (p.Cys172Arg)	single nucleotide variant	Uncertain significance	rs191692092	GRCh37	Chromosome 1, 150049247: 150049247
24	VPS45	NM_007259.5(VPS45): c.514T> C (p.Cys172Arg)	single nucleotide variant	Uncertain significance	rs191692092	GRCh38	Chromosome 1, 150077169: 150077169
25	VPS45	NM_007259.5(VPS45): c.1494-7A> G	single nucleotide variant	Likely benign		GRCh38	Chromosome 1, 150110489: 150110489
26	VPS45	NM_007259.5(VPS45): c.1494-7A> G	single nucleotide variant	Likely benign		GRCh37	Chromosome 1, 150082604: 150082604
27	VPS45	NM_007259.5(VPS45): c.566A> G (p.Glu189Gly)	single nucleotide variant	Uncertain significance	rs144659538	GRCh38	Chromosome 1, 150077221: 150077221
28	VPS45	NM_007259.5(VPS45): c.566A> G (p.Glu189Gly)	single nucleotide variant	Uncertain significance	rs144659538	GRCh37	Chromosome 1, 150049299: 150049299
29	VPS45	NM_007259.5(VPS45): c.570C> T (p.Cys190=)	single nucleotide variant	Benign	rs114087868	GRCh38	Chromosome 1, 150077225: 150077225
30	VPS45	NM_007259.5(VPS45): c.570C> T (p.Cys190=)	single nucleotide variant	Benign	rs114087868	GRCh37	Chromosome 1, 150049303: 150049303

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Expression for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 5, Autosomal Recessive.

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Pathways for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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GO Terms for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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Sources for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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