Spastic Paraplegia 46, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPS109 MIFTS: 37	Spastic Paraplegia 46, Autosomal Recessive Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for Spastic Paraplegia 46, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 46, Autosomal Recessive:

Name: Spastic Paraplegia 46, Autosomal Recessive ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Spg46 ⁵⁷ ¹² ⁵⁹ ⁷⁵

Autosomal Recessive Spastic Paraplegia Type 46 ¹² ⁵⁹

Hereditary Spastic Paraplegia 46 ¹² ¹⁵

Paraplegia, Spastic, Type 46, Autosomal Recessive ⁴⁰

Autosomal Recessive Spastic Paraplegia 46 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal recessive spastic paraplegia type 46
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in childhood (range 2 to 16 years)
some patients present with spasticity, whereas others present with cerebellar ataxia
some patients may have normal brain imaging

HPO:

³²

spastic paraplegia 46, autosomal recessive:
Onset and clinical course slow progression progressive
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 614409

Disease Ontology ¹² DOID:0110798

ICD10 ³³ G11.4

Orphanet ⁵⁹ ORPHA320391

ICD10 via Orphanet ³⁴ G11.4

MedGen ⁴² C2828721

MeSH ⁴⁴ D015419

SNOMED-CT via HPO ⁶⁹ 258211005 165232002 103276001 more

UMLS ⁷³ C2828721

Sources

Summaries for Spastic Paraplegia 46, Autosomal Recessive

OMIM : ⁵⁷ Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). (614409)

MalaCards based summary : Spastic Paraplegia 46, Autosomal Recessive, also known as spg46, is related to hereditary spastic paraplegia and paraplegia, and has symptoms including cerebellar ataxia and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 46, Autosomal Recessive is GBA2 (Glucosylceramidase Beta 2). Affiliated tissues include brain, and related phenotypes are nystagmus and hyperreflexia

Disease Ontology : ¹² A hereditary spastic paraplegia that has material basis in mutation in the GBA2 gene on chromosome 9p.

UniProtKB/Swiss-Prot : ⁷⁵ Spastic paraplegia 46, autosomal recessive: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.

Sources

Related Diseases for Spastic Paraplegia 46, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant	Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant	Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23	Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive	Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant	Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant	Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant	Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant	Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive	Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive	Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive	Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant	Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant	Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive	Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant	Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive	Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant	Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant	Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive	Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive	Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive	Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive	Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive	Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive	Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive	Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive	Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive	Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive	Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant	Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive	Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive	Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive	Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51	Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4	Spastic Paraplegia 8
Spastic Paraplegia 11	Spastic Paraplegia 1
Spastic Paraplegia 10	Spastic Paraplegia 12
Spastic Paraplegia 13	Spastic Paraplegia 14
Spastic Paraplegia 15	Spastic Paraplegia 16
Spastic Paraplegia 17	Spastic Paraplegia 18
Spastic Paraplegia 19	Spastic Paraplegia 24
Spastic Paraplegia 25	Spastic Paraplegia 26
Spastic Paraplegia 29	Spastic Paraplegia 3
Spastic Paraplegia 31	Spastic Paraplegia 32
Spastic Paraplegia 39	Spastic Paraplegia 51
Spastic Paraplegia 5a	Spastic Paraplegia 5b
Spastic Paraplegia 6	Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60	Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68	Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70	Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66	Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 46, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary spastic paraplegia	28.8	CYP2U1 GBA2 SPG21
2	paraplegia	10.1
3	spasticity	10.1
4	aceruloplasminemia	9.9
5	ataxia-oculomotor apraxia 3	9.9
6	spastic paraplegia 15, autosomal recessive	9.5	CYP2U1 SPG21
7	charcot-marie-tooth disease intermediate type	9.4	COX6A1 TRIM2
8	spastic paraplegia 35, autosomal recessive	9.2	CYP2U1 SPG21
9	charcot-marie-tooth disease type 2a2	8.9	COX6A1 SPG21 TRIM2
10	charcot-marie-tooth disease, axonal, type 2h	8.9	COX6A1 SPG21 TRIM2
11	charcot-marie-tooth disease, recessive intermediate d	8.9	COX6A1 SPG21 TRIM2
12	spastic paraplegia 55, autosomal recessive	8.9	COX6A1 SPG21 TRIM2
13	charcot-marie-tooth disease, axonal, type 2r	8.9	COX6A1 SPG21 TRIM2
14	charcot-marie-tooth disease, axonal, type 2b2	8.8	COX6A1 SPG21 TRIM2
15	charcot-marie-tooth disease, axonal, type 2p	8.8	COX6A1 SPG21 TRIM2
16	amyotrophic lateral sclerosis type 5	8.8	COX6A1 SPG21 TRIM2
17	charcot-marie-tooth disease, axonal, type 2b1	8.7	COX6A1 SPG21 TRIM2
18	spastic paraplegia 56, autosomal recessive	8.6	COX6A1 CYP2U1 GBA2 TRIM2
19	charcot-marie-tooth disease, axonal, type 2t	8.3	COX6A1 CYP2U1 SPG21 TRIM2
20	charcot-marie-tooth disease, axonal, type 2e	7.8	COX6A1 CYP2U1 GBA2 SPG21 TRIM2

Graphical network of the top 20 diseases related to Spastic Paraplegia 46, Autosomal Recessive:

Sources

Symptoms & Phenotypes for Spastic Paraplegia 46, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
jerky smooth pursuit
cataracts, congenital (in some patients)

Muscle Soft Tissue:
limb muscle weakness
increased muscle tone

Head And Neck Ears:
hearing loss (in some patients)

GenitourinaryInternal GenitaliaMale:
small testicles (in some patients)
abnormal sperm head (in some patients)
low sperm velocity (in some patients)
infertility (in some male patients)

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs (in some patients)
axonal sensory polyneuropathy (in some patients)

Neurologic Central Nervous System:
dysarthria
hyperreflexia
cerebellar atrophy
lower limb spasticity
spastic gait
more

Skeletal Spine:
scoliosis (in some patients)
kyphosis (in some patients)

Skeletal Feet:
pes cavus (in some patients)

Genitourinary Bladder:
urinary incontinence (variable)

Clinical features from OMIM:

614409

Human phenotypes related to Spastic Paraplegia 46, Autosomal Recessive:

⁵⁹ ³² (show all 44)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nystagmus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000639
2	hyperreflexia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001347
3	scoliosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002650
4	hearing impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000365
5	cataract ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000518
6	babinski sign ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003487
7	pes cavus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001761
8	cerebral cortical atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002120
9	decreased testicular size ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0008734
10	dementia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000726
11	abnormal tendon morphology ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100261
12	difficulty walking ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002355
13	truncal ataxia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002078
14	infertility ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000789
15	cerebellar atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001272
16	lower limb spasticity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002061
17	urinary incontinence ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000020
18	corpus callosum atrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007371
19	head tremor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002346
20	cerebral atrophy ⁵⁹ ³²		Frequent (79-30%)	HP:0002059
21	jerky ocular pursuit movements ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0008003
22	spastic dysarthria ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002464
23	broad-based gait ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002136
24	peripheral axonal neuropathy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003477
25	impaired vibration sensation at ankles ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0006938
26	upper limb spasticity ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0006986
27	reduced sperm motility ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0012207
28	sperm head anomaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0012865
29	intellectual disability ³²	occasional (7.5%)		HP:0001249
30	ataxia ⁵⁹		Very frequent (99-80%)
31	dysarthria ³²			HP:0001260
32	kyphosis ³²	occasional (7.5%)		HP:0002808
33	abnormal pyramidal signs ⁵⁹		Occasional (29-5%)
34	cognitive impairment ⁵⁹		Frequent (79-30%)
35	spastic paraplegia ³²			HP:0001258
36	impaired vibration sensation in the lower limbs ³²	occasional (7.5%)		HP:0002166
37	ankle clonus ³²			HP:0011448
38	spastic gait ³²			HP:0002064
39	hypoplasia of the corpus callosum ³²			HP:0002079
40	lower limb muscle weakness ³²			HP:0007340
41	abnormality of the cerebral white matter ⁵⁹		Frequent (79-30%)
42	limb dysmetria ³²			HP:0002406
43	abnormal sperm morphology ⁵⁹		Occasional (29-5%)
44	knee clonus ³²			HP:0011449

UMLS symptoms related to Spastic Paraplegia 46, Autosomal Recessive:

cerebellar ataxia, abnormal pyramidal signs

GenomeRNAi Phenotypes related to Spastic Paraplegia 46, Autosomal Recessive according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-111	9.35	GBA2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-134	9.35	COX6A1 GBA2
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	9.35	COX6A1
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-179	9.35	COX6A1
5	Mildly decreased CFP-tsO45G cell surface transport	GR00360-A-1	9.02	CREB3 CYP2U1 GBA2 SPG21 TRIM2

Sources

Drugs & Therapeutics for Spastic Paraplegia 46, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 46, Autosomal Recessive

Sources

Genetic Tests for Spastic Paraplegia 46, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 46, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 46, Autosomal Recessive ²⁹	GBA2

Sources

Anatomical Context for Spastic Paraplegia 46, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 46, Autosomal Recessive:

⁴¹

Brain

Sources

Publications for Spastic Paraplegia 46, Autosomal Recessive

Sources

Genes for Spastic Paraplegia 46, Autosomal Recessive

Genes related to Spastic Paraplegia 46, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GBA2	Glucosylceramidase Beta 2	Protein Coding	1696.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	23332916 20593214 23332917 (more) 24252062
2	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	17.89	GeneCards inferred via : Variants (show sections)
3	CYP2U1	Cytochrome P450 Family 2 Subfamily U Member 1	Protein Coding	17.1	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	SPG21	SPG21, Maspardin	Protein Coding	16.59	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	TRIM2	Tripartite Motif Containing 2	Protein Coding	16.47	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	COX6A1	Cytochrome C Oxidase Subunit 6A1	Protein Coding	16.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

Sources

Variations for Spastic Paraplegia 46, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 46, Autosomal Recessive:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	GBA2	p.Arg630Trp	VAR_069634	rs398123012
2	GBA2	p.Arg873His	VAR_069635	rs398123015

ClinVar genetic disease variations for Spastic Paraplegia 46, Autosomal Recessive:

⁶

(show all 15)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GBA2	NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp)	single nucleotide variant	Pathogenic	rs398123012	GRCh37	Chromosome 9, 35738808: 35738808
2	GBA2	NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp)	single nucleotide variant	Pathogenic	rs398123012	GRCh38	Chromosome 9, 35738811: 35738811
3	GBA2	NM_020944.2(GBA2): c.700C> T (p.Arg234Ter)	single nucleotide variant	Pathogenic	rs398123013	GRCh37	Chromosome 9, 35741755: 35741755
4	GBA2	NM_020944.2(GBA2): c.700C> T (p.Arg234Ter)	single nucleotide variant	Pathogenic	rs398123013	GRCh38	Chromosome 9, 35741758: 35741758
5	GBA2	GBA2, TRP173TER	undetermined variant	Pathogenic
6	GBA2	GBA2, 4-BP DUP, 1471GGCA	duplication	Pathogenic
7	GBA2	NM_020944.2(GBA2): c.1018C> T (p.Arg340Ter)	single nucleotide variant	Pathogenic	rs398123014	GRCh37	Chromosome 9, 35740830: 35740830
8	GBA2	NM_020944.2(GBA2): c.1018C> T (p.Arg340Ter)	single nucleotide variant	Pathogenic	rs398123014	GRCh38	Chromosome 9, 35740833: 35740833
9	GBA2	NM_020944.2(GBA2): c.2618G> A (p.Arg873His)	single nucleotide variant	Pathogenic	rs398123015	GRCh37	Chromosome 9, 35737332: 35737332
10	GBA2	NM_020944.2(GBA2): c.2618G> A (p.Arg873His)	single nucleotide variant	Pathogenic	rs398123015	GRCh38	Chromosome 9, 35737335: 35737335
11	GBA2	GBA2, TYR121TER	single nucleotide variant	Pathogenic
12	GBA2	NM_020944.2(GBA2): c.1780G> C (p.Asp594His)	single nucleotide variant	Pathogenic	rs398123064	GRCh37	Chromosome 9, 35739014: 35739014
13	GBA2	NM_020944.2(GBA2): c.1780G> C (p.Asp594His)	single nucleotide variant	Pathogenic	rs398123064	GRCh38	Chromosome 9, 35739017: 35739017
14	GBA2	NM_020944.2(GBA2): c.1030G> C (p.Ala344Pro)	single nucleotide variant	not provided	rs750984776	GRCh38	Chromosome 9, 35740625: 35740625
15	GBA2	NM_020944.2(GBA2): c.1030G> C (p.Ala344Pro)	single nucleotide variant	not provided	rs750984776	GRCh37	Chromosome 9, 35740622: 35740622

Sources

Expression for Spastic Paraplegia 46, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 46, Autosomal Recessive.

Sources

Pathways for Spastic Paraplegia 46, Autosomal Recessive

Sources

GO Terms for Spastic Paraplegia 46, Autosomal Recessive

Cellular components related to Spastic Paraplegia 46, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum membrane	GO:0005789	8.8	CREB3 CYP2U1 GBA2

Sources

Sources for Spastic Paraplegia 46, Autosomal Recessive

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