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

MCID: ATS203 MIFTS: 31	Autosomal Dominant Non-Syndromic Intellectual Disability Categories: Rare diseases, Neuronal diseases, Mental diseases
Genes Variations Related diseases Publications Pathways Download 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

Autosomal Dominant Mental Retardation ¹² ³⁷

Autosomal Dominant Non-Syndromic Mental Retardation ¹²

Mental Retardation, Autosomal Dominant ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060307

Orphanet ⁵⁹ ORPHA178469

KEGG ³⁷ H00773

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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability

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

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability, also known as autosomal dominant mental retardation, is related to autosomal dominant non-syndromic intellectual disability 1 and autosomal dominant non-syndromic intellectual disability 2. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability is ZNF462 (Zinc Finger Protein 462), and among its related pathways/superpathways are Neuroscience and Dopamine-DARPP32 Feedback onto cAMP Pathway. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability

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

(show top 50) (show all 54)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant non-syndromic intellectual disability 1	12.4
2	autosomal dominant non-syndromic intellectual disability 2	12.4
3	autosomal dominant non-syndromic intellectual disability 3	12.4
4	autosomal dominant non-syndromic intellectual disability 4	12.4
5	autosomal dominant non-syndromic intellectual disability 5	12.4
6	autosomal dominant non-syndromic intellectual disability 6	12.4
7	autosomal dominant non-syndromic intellectual disability 8	12.4
8	autosomal dominant non-syndromic intellectual disability 9	12.4
9	autosomal dominant mental retardation 55	12.0
10	autosomal dominant mental retardation 61	12.0
11	mental retardation, autosomal dominant 22	11.7
12	mental retardation, autosomal dominant 7	11.7
13	mental retardation, autosomal dominant 10	11.7
14	mental retardation, autosomal dominant 11	11.7
15	mental retardation, autosomal dominant 13	11.7
16	mental retardation, autosomal dominant 18	11.7
17	mental retardation, autosomal dominant 19	11.7
18	mental retardation, autosomal dominant 21	11.7
19	mental retardation, autosomal dominant 23	11.7
20	mental retardation, autosomal dominant 24	11.7
21	mental retardation, autosomal dominant 26	11.7
22	mental retardation, autosomal dominant 27	11.7
23	mental retardation, autosomal dominant 29	11.7
24	mental retardation, autosomal dominant 30	11.7
25	mental retardation, autosomal dominant 31	11.7
26	mental retardation, autosomal dominant 32	11.7
27	mental retardation, autosomal dominant 33	11.7
28	mental retardation, autosomal dominant 34	11.7
29	mental retardation, autosomal dominant 35	11.7
30	mental retardation, autosomal dominant 36	11.7
31	mental retardation, autosomal dominant 38	11.7
32	mental retardation, autosomal dominant 39	11.7
33	mental retardation, autosomal dominant 40	11.7
34	mental retardation, autosomal dominant 41	11.7
35	mental retardation, autosomal dominant 42	11.7
36	mental retardation, autosomal dominant 43	11.7
37	mental retardation, autosomal dominant 44	11.7
38	mental retardation, autosomal dominant 20	11.0
39	coffin-siris syndrome 2	11.0
40	coffin-siris syndrome 3	11.0
41	coffin-siris syndrome 4	11.0
42	schuurs-hoeijmakers syndrome	11.0
43	xia-gibbs syndrome	11.0
44	helsmoortel-van der aa syndrome	11.0
45	white-sutton syndrome	11.0
46	coffin-siris syndrome 1	11.0
47	paralytic lagophthalmos	10.7	DOCK8 MBD5
48	entropion	10.6	DOCK8 MBD5
49	lagophthalmos	10.5	DOCK8 MBD5
50	west syndrome	10.3	GRIN2B SCN2A STXBP1

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 (show all 31)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.91	ZNF462
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-108	9.91	EPB41L1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	9.91	CSNK2B
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.91	CSNK2B
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.91	GRIN2B
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.91	SCN2A
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	9.91	EPB41L1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	9.91	SCN2A
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-143	9.91	EPB41L1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-146	9.91	EPB41L1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.91	GRIN2B
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.91	SCN2A
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-166	9.91	EPB41L1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-170	9.91	CSNK2B
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	9.91	CSNK2B GRIN2B
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.91	GRIN2B
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.91	SCN2A
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.91	CSNK2B GRIN2B
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.91	ZNF462 EPB41L1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	9.91	CSNK2B
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.91	ZNF462
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	9.91	CSNK2B
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.91	ZNF462
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.91	SCN2A
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.91	ZNF462
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-51	9.91	ZNF462
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-6	9.91	CSNK2B
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.91	SCN2A
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.91	GRIN2B SCN2A
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.91	ZNF462 EPB41L1 GRIN2B SCN2A CSNK2B
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-9	9.91	SCN2A

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	10.03	SYNGAP1 CSNK2B DEAF1 DYNC1H1 EEF1A2 GRIN1
2	growth/size/body region	MP:0005378	9.97	CSNK2B DYNC1H1 EEF1A2 GRIN1 GRIN2B KIF1A
3	mortality/aging	MP:0010768	9.83	TCF4 CSNK2B DEAF1 DYNC1H1 EEF1A2 GRIN1
4	nervous system	MP:0003631	9.55	DOCK8 DYNC1H1 EEF1A2 EPB41L1 GRIN1 GRIN2B

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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	Year
1	[Autosomal dominant mental retardation]. ( 16506130 )	SA!nchez-DA-az A....Madrigal-Bajo I.	2006

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Genes for Autosomal Dominant Non-Syndromic Intellectual Disability

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability (28 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ZNF462	Zinc Finger Protein 462	Protein Coding	400	Pathogenic ⁶
2	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	400	Pathogenic ⁶
3	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	366.11	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	365.77	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	365.6	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	STXBP1	Syntaxin Binding Protein 1	Protein Coding	365.57	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	350	Causative germline mutation ⁵⁹
8	EPB41L1	Erythrocyte Membrane Protein Band 4.1 Like 1	Protein Coding	350	Causative germline mutation ⁵⁹
9	CSNK2B	Casein Kinase 2 Beta	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
10	CLTC	Clathrin Heavy Chain	Protein Coding	350	Causative germline mutation ⁵⁹
11	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	350	Causative germline mutation ⁵⁹
12	DEAF1	DEAF1, Transcription Factor	Protein Coding	350	Causative germline mutation ⁵⁹
13	EEF1A2	Eukaryotic Translation Elongation Factor 1 Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁹
14	KIF1A	Kinesin Family Member 1A	Protein Coding	350	Causative germline mutation ⁵⁹
15	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁹
16	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	350	Causative germline mutation ⁵⁹
17	TCF4	Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁹
18	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	350	Causative germline mutation ⁵⁹
19	KIRREL3	Kirre Like Nephrin Family Adhesion Molecule 3	Protein Coding	350	Causative germline mutation ⁵⁹
20	KCNQ5	Potassium Voltage-Gated Channel Subfamily Q Member 5	Protein Coding	350	Causative germline mutation ⁵⁹
21	CIC	Capicua Transcriptional Repressor	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
22	HIVEP2	Human Immunodeficiency Virus Type I Enhancer Binding Protein 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
23	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	350	Causative germline mutation ⁵⁹
24	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	350	Causative germline mutation ⁵⁹
25	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	350	Causative germline mutation ⁵⁹
26	CDH15	Cadherin 15	Protein Coding	350	Causative germline mutation ⁵⁹
27	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	350	Causative germline mutation ⁵⁹
28	KDM5B	Lysine Demethylase 5B	Protein Coding	25	Candidate gene tested ⁵⁹
29	AUTS2	AUTS2, Activator Of Transcription And Developmental Regulator	Protein Coding	16.16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
30	SYT1	Synaptotagmin 1	Protein Coding	15.67	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
31	DNASE1	Deoxyribonuclease 1	Protein Coding	15.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
32	CTCF	CCCTC-Binding Factor	Protein Coding	15.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
33	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	15.09	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
34	SNAP25	Synaptosome Associated Protein 25	Protein Coding	15.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Autosomal Dominant Non-Syndromic Intellectual Disability

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

⁶

(show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KAT6B	NM_012330.3(KAT6B): c.3544G> A (p.Glu1182Lys)	single nucleotide variant	Likely benign	rs1057519623	GRCh38	Chromosome 10, 75025129: 75025129
2	KAT6B	NM_012330.3(KAT6B): c.3544G> A (p.Glu1182Lys)	single nucleotide variant	Likely benign	rs1057519623	GRCh37	Chromosome 10, 76784887: 76784887
3	NAA10	NM_003491.3(NAA10): c.583C> T (p.Arg195Cys)	single nucleotide variant	Likely benign	rs1057519620	GRCh38	Chromosome X, 153930112: 153930112
4	NAA10	NM_003491.3(NAA10): c.583C> T (p.Arg195Cys)	single nucleotide variant	Likely benign	rs1057519620	GRCh37	Chromosome X, 153195565: 153195565
5	SMARCA2	NM_003070.4(SMARCA2): c.2329C> G (p.Leu777Val)	single nucleotide variant	Uncertain significance	rs771591197	GRCh37	Chromosome 9, 2081976: 2081976
6	SMARCA2	NM_003070.4(SMARCA2): c.2329C> G (p.Leu777Val)	single nucleotide variant	Uncertain significance	rs771591197	GRCh38	Chromosome 9, 2081976: 2081976
7	SCN2A	NM_021007.2(SCN2A): c.3697G> T (p.Glu1233Ter)	single nucleotide variant	Pathogenic	rs1057519617	GRCh37	Chromosome 2, 166226657: 166226657
8	SCN2A	NM_021007.2(SCN2A): c.3697G> T (p.Glu1233Ter)	single nucleotide variant	Pathogenic	rs1057519617	GRCh38	Chromosome 2, 165370147: 165370147
9	ZNF462	NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter)	single nucleotide variant	Pathogenic	rs1060499549	GRCh37	Chromosome 9, 109689980: 109689980
10	ZNF462	NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter)	single nucleotide variant	Pathogenic	rs1060499549	GRCh38	Chromosome 9, 106927699: 106927699
11	ZNF462	NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs)	deletion	Pathogenic	rs1060499551	GRCh37	Chromosome 9, 109690456: 109690456
12	ZNF462	NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs)	deletion	Pathogenic	rs1060499551	GRCh38	Chromosome 9, 106928175: 106928175
13	ZNF462	NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs)	indel	Pathogenic	rs1060499550	GRCh37	Chromosome 9, 109689172: 109689173
14	ZNF462	NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs)	indel	Pathogenic	rs1060499550	GRCh38	Chromosome 9, 106926891: 106926892

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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 GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	12.09	GRIN1 GRIN2B SCN2A STXBP1 SYNGAP1
2	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.03	GRIN1 GRIN2B KCNQ5 PPP3CA
3	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	11.78	CSNK2B PPP3CA RAB11A STXBP1
4	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶	11.77	CLTC CSNK2B SCN2A
5	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.7	GRIN1 GRIN2B PPP3CA
6	Amyotrophic lateral sclerosis (ALS) ¹ ³⁷ Show member pathways Pathogenesis of ALS ⁶⁴	11.67	GRIN1 GRIN2B PPP3CA
7	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁶	11.54	GRIN1 GRIN2B PPP3CA
8	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.37	GRIN1 GRIN2B PPP3CA
9	Protein-protein interactions at synapses ⁶⁶ Show member pathways Interactions of neurexins and neuroligins at synapses ⁶⁶	11.37	EPB41L1 GRIN1 GRIN2B STXBP1
10	SALM protein interactions at the synapses ⁶⁶	10.8	GRIN1 GRIN2B
11	nNOS Signaling at Neuronal Synapses ⁶⁴	10.26	GRIN1 GRIN2B PPP3CA

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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	plasma membrane	GO:0005886	9.77	CLTC CSNK2B DOCK8 EPB41L1 GRIN1 GRIN2B
2	postsynapse	GO:0098794	9.43	KIF1A PPP3CA STXBP1
3	NMDA selective glutamate receptor complex	GO:0017146	9.32	GRIN1 GRIN2B
4	clathrin coat	GO:0030118	9.16	CLTC KCNQ5
5	axon	GO:0030424	9.02	KIF1A KIRREL3 RAB11A SCN2A STXBP1

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	vesicle-mediated transport	GO:0016192	9.76	CLTC KIF1A RAB11A STXBP1
2	microtubule-based movement	GO:0007018	9.67	CLTC DYNC1H1 KIF1A
3	excitatory postsynaptic potential	GO:0060079	9.61	GRIN1 GRIN2B PPP3CA
4	ionotropic glutamate receptor signaling pathway	GO:0035235	9.51	GRIN1 GRIN2B
5	regulation of mitotic spindle organization	GO:0060236	9.48	CLTC DYNC1H1
6	calcium-mediated signaling	GO:0019722	9.43	GRIN1 GRIN2B PPP3CA
7	positive regulation of cysteine-type endopeptidase activity	GO:2001056	9.4	GRIN1 GRIN2B
8	excitatory chemical synaptic transmission	GO:0098976	9.37	GRIN1 GRIN2B
9	regulation of synaptic plasticity	GO:0048167	9.33	GRIN1 GRIN2B SYNGAP1
10	calcium ion transmembrane import into cytosol	GO:0097553	9.32	GRIN1 GRIN2B
11	visual learning	GO:0008542	9.13	DEAF1 GRIN1 SYNGAP1
12	regulation of long-term neuronal synaptic plasticity	GO:0048169	8.8	GRIN1 RAB11A SYNGAP1

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	9.91	CLTC CSNK2B DEAF1 DOCK8 DYNC1H1 EEF1A2
2	ionotropic glutamate receptor activity	GO:0004970	9.4	GRIN1 GRIN2B
3	extracellularly glutamate-gated ion channel activity	GO:0005234	9.37	GRIN1 GRIN2B
4	glycine binding	GO:0016594	9.32	GRIN1 GRIN2B
5	glutamate binding	GO:0016595	9.26	GRIN1 GRIN2B
6	NMDA glutamate receptor activity	GO:0004972	9.16	GRIN1 GRIN2B
7	glutamate-gated calcium ion channel activity	GO:0022849	8.62	GRIN1 GRIN2B

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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

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

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

²⁹ GTR

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia