Autosomal Dominant Non-Syndromic Intellectual Disability disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATS203 MIFTS: 35	Autosomal Dominant Non-Syndromic Intellectual Disability Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability ¹² ⁵³ ⁵⁹ ¹⁵

Mental Retardation, Autosomal Dominant ⁶ ⁴⁰

Autosomal Dominant Mental Retardation ¹² ³⁷

Autosomal Dominant Non-Syndromic Mental Retardation ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal dominant non-syndromic intellectual disability
Inheritance: Autosomal dominant;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060307

KEGG ³⁷ H00773

Orphanet ⁵⁹ ORPHA178469

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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

KEGG : ³⁷

Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most MR genes identified so far were either located on the X chromosome or are associated with an autosomal recessive mode of inheritance. Recently, a lot of genes associated with autosomal dominant mental retardation have been identified.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability, also known as mental retardation, autosomal dominant, is related to alacrima, achalasia, and mental retardation syndrome and autosomal dominant non-syndromic intellectual disability 1. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Dopaminergic synapse and Adrenergic signaling in cardiomyocytes. Related phenotypes are no effect and behavior/neurological

Disease Ontology : ¹² A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.

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Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability	Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1	Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3	Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5	Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8	Autosomal Dominant Non-Syndromic Intellectual Disability 9
Autosomal Dominant Non-Syndromic Intellectual Disability 19	Autosomal Dominant Non-Syndromic Intellectual Disability 27

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)

#	Related Disease	Score	Top Affiliating Genes
1	alacrima, achalasia, and mental retardation syndrome	30.3	GRIN1 EEF1A2 CAMK2B CAMK2A
2	autosomal dominant non-syndromic intellectual disability 1	12.8
3	autosomal dominant non-syndromic intellectual disability 2	12.8
4	autosomal dominant non-syndromic intellectual disability 3	12.8
5	autosomal dominant non-syndromic intellectual disability 4	12.8
6	autosomal dominant non-syndromic intellectual disability 5	12.8
7	autosomal dominant non-syndromic intellectual disability 6	12.8
8	autosomal dominant non-syndromic intellectual disability 9	12.8
9	autosomal dominant non-syndromic intellectual disability 8	12.7
10	autosomal dominant non-syndromic intellectual disability 19	12.7
11	autosomal dominant non-syndromic intellectual disability 27	12.7
12	mental retardation, autosomal dominant 6, with or without seizures	12.7
13	mental retardation, autosomal dominant 55, with seizures	12.6
14	mental retardation, autosomal dominant 57	12.6
15	mental retardation, autosomal dominant 58	12.6
16	autosomal dominant mental retardation 55	12.3
17	mental retardation, autosomal dominant 7	12.1
18	mental retardation, autosomal dominant 10	12.1
19	mental retardation, autosomal dominant 11	12.1
20	mental retardation, autosomal dominant 13	12.1
21	mental retardation, autosomal dominant 21	12.1
22	mental retardation, autosomal dominant 24	12.1
23	mental retardation, autosomal dominant 32	12.1
24	mental retardation, autosomal dominant 35	12.1
25	mental retardation, autosomal dominant 38	12.1
26	mental retardation, autosomal dominant 41	12.1
27	mental retardation, autosomal dominant 43	12.1
28	coffin-siris syndrome 9	12.1
29	mental retardation, autosomal dominant 22	12.0
30	mental retardation, autosomal dominant 18	12.0
31	mental retardation, autosomal dominant 23	12.0
32	mental retardation, autosomal dominant 26	12.0
33	mental retardation, autosomal dominant 29	12.0
34	mental retardation, autosomal dominant 30	12.0
35	mental retardation, autosomal dominant 31	12.0
36	mental retardation, autosomal dominant 33	12.0
37	mental retardation, autosomal dominant 34	12.0
38	mental retardation, autosomal dominant 36	12.0
39	mental retardation, autosomal dominant 39	12.0
40	mental retardation, autosomal dominant 40	12.0
41	mental retardation, autosomal dominant 42	12.0
42	mental retardation, autosomal dominant 44	12.0
43	neurodevelopmental disorder with spastic diplegia and visual defects	11.7
44	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	11.7
45	adnp syndrome	11.5
46	coffin-siris syndrome 1	11.3
47	mental retardation, autosomal dominant 20	11.3
48	schuurs-hoeijmakers syndrome	11.3
49	xia-gibbs syndrome	11.3
50	helsmoortel-van der aa syndrome	11.3

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability:

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Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.92	CACNG2 CAMK2A CAMK2B CDH15 CHAMP1 CIC

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.1	CACNG2 CAMK2A CAMK2B CIC CSNK2B DEAF1
2	growth/size/body region	MP:0005378	9.93	CACNG2 CAMK2A CAMK2B CIC CSNK2B DYNC1H1
3	mortality/aging	MP:0010768	9.77	CACNG2 CAMK2A CIC CSNK2B DEAF1 DYNC1H1
4	nervous system	MP:0003631	9.53	CACNG2 CAMK2A CAMK2B CIC CSNK2B DEAF1

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Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability

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Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability

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Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability

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Publications for Autosomal Dominant Non-Syndromic Intellectual Disability

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability:

#	Title	Authors	PMID	Year
1	GATAD2B-related intellectual disability due to parental mosaicism and review of literature. ³⁸	Kaur P...Shukla A	31205050	2019
2	MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. ³⁸	Al Tuwaijri A...Alfadhel M	30796847	2019
3	Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. ³⁸	Gumus E	30858058	2019
4	Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. ³⁸	Widowati EW...Becker W	29700199	2018

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Genes for Autosomal Dominant Non-Syndromic Intellectual Disability

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability (32 elite genes):

(show top 50) (show all 80)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	403.59	Pathogenic ⁶ DISEASES inferred ¹⁵
2	ZNF462	Zinc Finger Protein 462	Protein Coding	400	Pathogenic ⁶
3	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	354.59	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
4	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	354.5	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
5	DEAF1	DEAF1 Transcription Factor	Protein Coding	354.32	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
6	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	354.11	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
7	KIF1A	Kinesin Family Member 1A	Protein Coding	353.74	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
8	STXBP1	Syntaxin Binding Protein 1	Protein Coding	353.53	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
9	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	350	Causative germline mutation ⁵⁹
10	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	350	Causative germline mutation ⁵⁹
11	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	350	Causative germline mutation ⁵⁹
12	CDH15	Cadherin 15	Protein Coding	350	Causative germline mutation ⁵⁹
13	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	350	Causative germline mutation ⁵⁹
14	CIC	Capicua Transcriptional Repressor	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
15	CLTC	Clathrin Heavy Chain	Protein Coding	350	Causative germline mutation ⁵⁹
16	CSNK2B	Casein Kinase 2 Beta	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
17	CUX1	Cut Like Homeobox 1	Protein Coding	350	Causative germline mutation ⁵⁹
18	EEF1A2	Eukaryotic Translation Elongation Factor 1 Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁹
19	EPB41L1	Erythrocyte Membrane Protein Band 4.1 Like 1	Protein Coding	350	Causative germline mutation ⁵⁹
20	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	350	Causative germline mutation ⁵⁹
21	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	350	Causative germline mutation ⁵⁹
22	HIVEP2	HIVEP Zinc Finger 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
23	KCNQ5	Potassium Voltage-Gated Channel Subfamily Q Member 5	Protein Coding	350	Causative germline mutation ⁵⁹
24	KIRREL3	Kirre Like Nephrin Family Adhesion Molecule 3	Protein Coding	350	Causative germline mutation ⁵⁹
25	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	350	Causative germline mutation ⁵⁹
26	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁹
27	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	350	Causative germline mutation ⁵⁹
28	SET	SET Nuclear Proto-Oncogene	Protein Coding	350	Causative germline mutation ⁵⁹
29	TCF4	Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁹
30	ZMYND11	Zinc Finger MYND-Type Containing 11	Protein Coding	350	Causative germline mutation ⁵⁹
31	KDM5B	Lysine Demethylase 5B	Protein Coding	25	Candidate gene tested ⁵⁹
32	MYT1L	Myelin Transcription Factor 1 Like	Protein Coding	25	Candidate gene tested ⁵⁹
33	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	18.28	DISEASES inferred ¹⁵
34	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	17.74	DISEASES inferred ¹⁵
35	AHDC1	AT-Hook DNA Binding Motif Containing 1	Protein Coding	17.33	DISEASES inferred ¹⁵
36	BANF1	Barrier To Autointegration Factor 1	Protein Coding	17.2	DISEASES inferred ¹⁵
37	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	17.04	DISEASES inferred ¹⁵
38	ADNP	Activity Dependent Neuroprotector Homeobox	Protein Coding	16.93	DISEASES inferred ¹⁵
39	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	16.61	DISEASES inferred ¹⁵
40	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	16.61	DISEASES inferred ¹⁵
41	PHF6	PHD Finger Protein 6	Protein Coding	16.35	DISEASES inferred ¹⁵
42	PACS1	Phosphofurin Acidic Cluster Sorting Protein 1	Protein Coding	16.28	DISEASES inferred ¹⁵
43	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	16.26	DISEASES inferred ¹⁵
44	ARID2	AT-Rich Interaction Domain 2	Protein Coding	16.17	DISEASES inferred ¹⁵
45	SOX11	SRY-Box Transcription Factor 11	Protein Coding	16.05	DISEASES inferred ¹⁵
46	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	15.95	DISEASES inferred ¹⁵
47	CHPF2	Chondroitin Polymerizing Factor 2	Protein Coding	15.82	DISEASES inferred ¹⁵
48	CAPNS2	Calpain Small Subunit 2	Protein Coding	6.77	DISEASES inferred ¹⁵
49	CHSY3	Chondroitin Sulfate Synthase 3	Protein Coding	6.69	DISEASES inferred ¹⁵
50	CHPF	Chondroitin Polymerizing Factor	Protein Coding	6.51	DISEASES inferred ¹⁵

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Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	SCN2A	NM_001040142.2(SCN2A): c.3697G> T (p.Glu1233Ter)	single nucleotide variant	Pathogenic	rs1057519617	2:166226657-166226657	2:165370147-165370147
2	ZNF462	NM_021224.6(ZNF462): c.3787C> T (p.Arg1263Ter)	single nucleotide variant	Pathogenic	rs1060499549	9:109689980-109689980	9:106927699-106927699
3	ZNF462	NM_021224.6(ZNF462): c.4263del (p.Glu1422fs)	deletion	Pathogenic	rs1060499551	9:109690456-109690456	9:106928175-106928175
4	ZNF462	NM_021224.6(ZNF462): c.2979_2980delinsA (p.Val994fs)	indel	Pathogenic	rs1060499550	9:109689172-109689173	9:106926891-106926892
5	SMARCA2	NM_003070.5(SMARCA2): c.2329C> G (p.Leu777Val)	single nucleotide variant	Uncertain significance	rs771591197	9:2081976-2081976	9:2081976-2081976
6	KAT6B	NM_012330.4(KAT6B): c.3544G> A (p.Glu1182Lys)	single nucleotide variant	Likely benign	rs1057519623	10:76784887-76784887	10:75025129-75025129
7	NAA10	NM_003491.4(NAA10): c.583C> T (p.Arg195Cys)	single nucleotide variant	Likely benign	rs1057519620	X:153195565-153195565	X:153930112-153930112

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Expression for Autosomal Dominant Non-Syndromic Intellectual Disability

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability.

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Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Dopaminergic synapse	hsa04728
2	Adrenergic signaling in cardiomyocytes	hsa04261
3	cAMP signaling pathway	hsa04024

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	13.02	SYNGAP1 SCN2A GRIN1 CSNK2B CLTC CDH15
2	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.59	STXBP1 GRIN1 EPB41L1 CAMK2B CAMK2A CACNG2
3	Protein-protein interactions at synapses ⁶⁶ Show member pathways Interactions of neurexins and neuroligins at synapses ⁶⁶	11.72	STXBP1 GRIN1 EPB41L1
4	Neuroscience ⁴	11.7	SYNGAP1 STXBP1 SCN2A GRIN1 CAMK2B CAMK2A
5	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶	11.68	SCN2A CSNK2B CLTC
6	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.61	GRIN1 CAMK2B CAMK2A
7	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.37	GRIN1 CAMK2B CAMK2A
8	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.13	SCN2A CAMK2B CAMK2A CACNG2

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GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.87	STXBP1 KIF1A EPB41L1 DYNC1H1 CLTC CHAMP1
2	synapse	GO:0045202	9.8	GRIN1 EEF1A2 CAMK2B CAMK2A CACNG2
3	cytosol	GO:0005829	9.77	SYNGAP1 STXBP1 KIF1A EPB41L1 DYNC1H1 DOCK8
4	postsynaptic density	GO:0014069	9.67	SYNGAP1 GRIN1 CAMK2A CACNG2
5	neuron projection	GO:0043005	9.55	KIF1A GRIN1 CAMK2B CAMK2A CACNG2
6	postsynaptic density membrane	GO:0098839	9.46	GRIN1 CACNG2
7	endocytic vesicle membrane	GO:0030666	9.43	CAMK2B CAMK2A CACNG2
8	glutamatergic synapse	GO:0098978	9.02	SYNGAP1 STXBP1 SCN2A GRIN1 CACNG2
9	plasma membrane	GO:0005886	10.17	SYNGAP1 STXBP1 SCN2A GRIN1 EPB41L1 DOCK8

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of neuronal synaptic plasticity	GO:0048168	9.37	GRIN1 CAMK2A
2	regulation of mitotic spindle organization	GO:0060236	9.32	DYNC1H1 CLTC
3	regulation of neuron migration	GO:2001222	9.26	CAMK2B CAMK2A
4	MAPK cascade	GO:0000165	9.16	SYNGAP1 GRIN1
5	visual learning	GO:0008542	9.13	SYNGAP1 GRIN1 DEAF1
6	regulation of long-term neuronal synaptic plasticity	GO:0048169	8.8	SYNGAP1 GRIN1 CAMK2B

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.53	ZNF462 STXBP1 GRIN1 EPB41L1 EEF1A2 DYNC1H1
2	identical protein binding	GO:0042802	9.35	STXBP1 KIF1A CSNK2B CAMK2B CAMK2A
3	calmodulin-dependent protein kinase activity	GO:0004683	9.16	CAMK2B CAMK2A

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Sources for Autosomal Dominant Non-Syndromic Intellectual Disability

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

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¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia