Retinitis Pigmentosa 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Retinitis Pigmentosa 14

MalaCards integrated aliases for Retinitis Pigmentosa 14:

Name: Retinitis Pigmentosa 14 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵ ⁷³

Rp14 ⁵⁷ ¹² ⁷⁵

Retinitis Pigmentosa Juvenile Tulp1-Related ⁷⁵

Retinitis Pigmentosa, Type 14 ⁴⁰

Rp 14 ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive (6p)

HPO:

³²

retinitis pigmentosa 14:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

OMIM ⁵⁷ 600132

Disease Ontology ¹² DOID:0110381

ICD10 ³³ H35.5

MedGen ⁴² C1838603

MeSH ⁴⁴ D012174

SNOMED-CT via HPO ⁶⁹ 258211005 28835009

UMLS ⁷³ C1838603

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Summaries for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot : ⁷⁵ Retinitis pigmentosa 14: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 14, also known as rp14, is related to leber congenital amaurosis 15 and cancer-associated retinopathy. An important gene associated with Retinitis Pigmentosa 14 is TULP1 (Tubby Like Protein 1). The drugs Omalizumab and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is rod-cone dystrophy.

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the TULP1 gene on chromosome 6p21.

Description from OMIM: 600132

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Related Diseases for Retinitis Pigmentosa 14

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1	Retinitis Pigmentosa 9
Retinitis Pigmentosa 10	Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3	Retinitis Pigmentosa 24
Retinitis Pigmentosa 23	Retinitis Pigmentosa 34
Retinitis Pigmentosa 2	Retinitis Pigmentosa 6
Retinitis Pigmentosa 13	Retinitis Pigmentosa 12
Retinitis Pigmentosa 14	Retinitis Pigmentosa 11
Retinitis Pigmentosa 17	Retinitis Pigmentosa 18
Retinitis Pigmentosa 19	Retinitis Pigmentosa 22
Retinitis Pigmentosa 25	Retinitis Pigmentosa 28
Retinitis Pigmentosa 30	Retinitis Pigmentosa 7
Retinitis Pigmentosa 26	Retinitis Pigmentosa 32
Retinitis Pigmentosa 31	Retinitis Pigmentosa 35
Retinitis Pigmentosa 33	Retinitis Pigmentosa 36
Retinitis Pigmentosa 37	Retinitis Pigmentosa 41
Retinitis Pigmentosa 29	Retinitis Pigmentosa 46
Retinitis Pigmentosa 42	Retinitis Pigmentosa 50
Retinitis Pigmentosa 54	Retinitis Pigmentosa 51
Retinitis Pigmentosa 55	Retinitis Pigmentosa 56
Retinitis Pigmentosa 57	Retinitis Pigmentosa 58
Retinitis Pigmentosa 4	Retinitis Pigmentosa 27
Retinitis Pigmentosa 49	Retinitis Pigmentosa 47
Retinitis Pigmentosa 45	Retinitis Pigmentosa 44
Retinitis Pigmentosa 20	Retinitis Pigmentosa 40
Retinitis Pigmentosa 39	Retinitis Pigmentosa 43
Retinitis Pigmentosa 48	Retinitis Pigmentosa 59
Retinitis Pigmentosa 38	Retinitis Pigmentosa 60
Retinitis Pigmentosa 61	Retinitis Pigmentosa 62
Retinitis Pigmentosa 63	Retinitis Pigmentosa 66
Retinitis Pigmentosa 67	Retinitis Pigmentosa 68
Retinitis Pigmentosa 69	Retinitis Pigmentosa 70
Retinitis Pigmentosa 71	Retinitis Pigmentosa 72
Retinitis Pigmentosa 73	Retinitis Pigmentosa 74
Retinitis Pigmentosa 75	Retinitis Pigmentosa 76
Retinitis Pigmentosa 77	Retinitis Pigmentosa 78
Retinitis Pigmentosa 79	Retinitis Pigmentosa 80
Retinitis Pigmentosa 81	Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 14 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis 15	11.0
2	cancer-associated retinopathy	10.2	ENO1 TULP1
3	retinitis pigmentosa	9.9
4	leber congenital amaurosis 4	9.9
5	retinitis	9.9
6	brain injury	9.9	ENO1 S100B

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 14:

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Symptoms & Phenotypes for Retinitis Pigmentosa 14

Symptoms via clinical synopsis from OMIM:

⁵⁷

Eyes:
retinitis pigmentosa

Clinical features from OMIM:

600132

Human phenotypes related to Retinitis Pigmentosa 14:

³²

#	Description	HPO Frequency	HPO Source Accession
1	rod-cone dystrophy ³²		HP:0000510

Sources

Drugs & Therapeutics for Retinitis Pigmentosa 14

Drugs for Retinitis Pigmentosa 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Omalizumab

Approved, Investigational

Phase 2, Phase 3

242138-07-4

2

Prednisone

Approved, Vet_approved

Phase 2, Phase 3

53-03-2

5865

Synonyms:

(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione

(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione

(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione

.delta. E

.delta.(sup1)-Cortisone

.delta.1-Cortisone

.delta.1-Dehydrocortisone

.delta.-Cortelan

.delta.-Cortisone

.delta.-Cortone

.delta.-E

.delta.sone

1,2-Dehydrocortisone

1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione

1,4-Pregnadiene-17a,21-diol-3,11,20-trione

1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione

1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione

1,4-Pregnadiene-17α,21-diol-3,11,20-trione

17,21-Dihydroxypregna-1,4-diene-3,11,20-trione

17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione

1-Cortisone

1-Dehydrocortisone

53-03-2

68-59-7

81552_FLUKA

AC-11112

AC1L1LB2

AC1Q29EZ

Acis brand OF prednisone

ACon0_000082

ACon1_000297

Adasone

AI3-52939

Ancortone

apo-Prednisone

Apo-prednisone

Apo-Prednisone

Apotex brand OF prednisone

Aventis brand OF prednisone

Betapar

Bicortone

Bio-0649

BPBio1_000323

BRD-K85883481-001-04-2

BSPBio_000293

C07370

C21H26O5

Cartancyl

CCRIS 2646

CHEBI:8382

CHEMBL635

CID5865

Colisone

Cortan

Cortancyl

Cortidelt

Cotone

CPD001227202

Cutason

Dacorten

Dacortin

DB00635

Decortancyl

Decortin

Decortisyl

Dehydrocortisone

Dekortin

Delcortin

Dellacort

Dellacort A

delta cortelan

Delta Cortelan

Delta E

Delta E.

delta(sup 1)-Cortisone

delta(sup 1)-Dehydrocortisone

delta-1-Cortisone

delta-1-Dehydrocortisone

Delta-cortelan

Delta-Cortelan

Deltacortene

delta-Cortisone

Deltacortisone

Delta-cortisone

delta-Cortone

Deltacortone

Delta-cortone

Delta-dome

Delta-Dome

Deltasone

Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone

Deltison

Deltisona

Deltisone

Deltra

Diadreson

Di-Adreson

Diba brand OF prednisone

Econosone

EINECS 200-160-3

Encorton

Encortone

Enkortolon

Enkorton

Fawns and mcallan brand OF prednisone

Fernisone

Ferring brand OF prednisone

Fiasone

GALENpharma brand OF prednisone

Halsey drug brand OF prednisone

Hexal brand OF prednisone

HMS1568O15

HMS2090J13

Hoechst brand OF prednisone

Hostacortin

HSDB 3168

ICN brand OF prednisone

Incocortyl

In-Sone

Juvason

Kortancyl

Lichtenstein brand OF prednisone

Liquid pred

Liquid Pred

Lisacort

LMST02030180

Lodotra

LS-1325

MEGxm0_000443

Me-Korti

Merck brand OF prednisone

Merz brand OF prednisone

Metacortandracin

Meticorten

Meticorten (Veterinary)

Metrevet (Veterinary)

Mibe brand OF prednisone

MLS001061265

MLS001304073

MLS001335907

MLS001335908

MLS002154191

MLS002207083

MolPort-001-740-041

NCGC00090766-01

NCGC00090766-02

NCGC00090766-03

NCI60_000008

NCI-C04897

Nisona

Nizon

Novoprednisone

NSC 10023

NSC10023

Nurison

Orasone

Origen Prednisone

P1276

P6254_SIGMA

Panafcort

Panasol

Paracort

Parmenison

Pehacort

Pharmacia brand OF prednisone

PRD

Precort

Predeltin

Predni tablinen

Prednicen-M

Prednicorm

Prednicort

Prednicot

Prednidib

Prednilonga

Predniment

Prednison

Prednison acsis

Prednison galen

Prednison hexal

Prednisona

Prednisona [INN-Spanish]

Prednisone

Prednisone [INN:BAN]

Prednisone Intensol

Prednisonum

Prednisonum [INN-Latin]

Prednitone

Prednizon

Prednovister

Presone

Prestwick_405

Prestwick0_000077

Prestwick1_000077

Prestwick2_000077

Prestwick3_000077

Pronison

Pronisone

Rectodelt

Retrocortine

S1622_Selleck

SAM002264641

Schering-plough brand OF prednisone

Seatrace brand OF prednisone

Servisone

SK-Prednisone

SMR000718760

SMR001227202

Solvay brand OF prednisone

Sone

SPBio_002214

Sterapred

Supercortil

Trommsdorff brand OF prednisone

U 6020

Ultracorten

Ultracortene

UNII-VB0R961HZT

Winpred

WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ

Wojtab

Zenadrid

Zenadrid (veterinary)

Zenadrid [veterinary]

ZINC03875357

3

Metformin

Approved

Phase 3

657-24-9

14219 4091

Synonyms:

1,1-Dimethyl biguanide

1,1-Dimethylbiguanide

3-(diaminomethylidene)-1,1-dimethylguanidine

657-24-9

AC1L1HE4

AKOS000121065

Apo-Metformin

BIDD:GT0697

BPBio1_000009

BRD-K79602928-003-04-1

BSPBio_000007

BSPBio_002314

C07151

C4H11N5

CAS-1115-70-4

CCRIS 9321

CHEBI:6801

CHEMBL1431

CID4091

cMAP_000016

D04966

DB00331

Diabetosan

Diabex

Dimethylbiguanid

Dimethylbiguanide

Dimethylbiguanidine

Dimethyldiguanide

Dimethylguanylguanidine

DMGG

EINECS 211-517-8

Fluamine

Flumamine

Fortamet

Gen-Metformin

Glifage

Gliguanid

Glucophage

Glucophage XR

Glumetza

Glycon

Haurymelin

HMS2089D19

HSCI1_000295

Islotin

KBio2_002310

KBio2_004878

KBio2_007446

KBio3_002790

KBioGR_002310

KBioSS_002312

LA-6023

LS-43899

Melbin

metformin

Metformin

Metformin (USAN/INN)

Metformin [USAN:INN:BAN]

Metformin HCL

metformin hydrochloride

Metformina

Metformina [DCIT]

Metformina [Spanish]

Metformine

Metformine [INN-French]

Metforminum

Metforminum [INN-Latin]

Metiguanide

MolPort-002-929-560

MolPort-004-288-389

MolPort-005-767-418

Mylan-Metformin

N,N-Dimethylbiguanide

N,N-Dimethyldiguanide

N,N-dimethylimidodicarbonimidic diamide

N1,N1-Dimethylbiguanide

NCGC00016564-01

NCGC00016564-02

NCGC00016564-03

NNDG

Novo-Metformin

Nu-Metformin

PMS-Metformin

Prestwick0_000004

Prestwick1_000004

Prestwick2_000004

Prestwick3_000004

Ran-Metformin

Ratio-Metformin

Riomet

S2483_Selleck

Sandoz Metformin

Siofor

SPBio_001928

STK011633

T5895664

Teva-Metformin

UNII-9100L32L2N

ZINC12859773

4

Anti-Allergic Agents

Phase 2, Phase 3

5

Anti-Asthmatic Agents

Phase 2, Phase 3

6

Respiratory System Agents

Phase 2, Phase 3

7

Hypoglycemic Agents

Phase 3

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Study of the Steroid Sparing Effect of Xolair (Omalizumab) in Patients With Persistent Eosinophilic Bronchitis	Completed	NCT02049294	Phase 2, Phase 3	Placebo
2	Dapagliflozin and Metformin,Alone and in Combination, in Overweight/Obese Prior GDM Women	Recruiting	NCT02338193	Phase 3	DAPA/MET XR;DAPA;MET XR

Search NIH Clinical Center for Retinitis Pigmentosa 14

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Genetic Tests for Retinitis Pigmentosa 14

Genetic tests related to Retinitis Pigmentosa 14:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 14 ²⁹	TULP1

Sources

Anatomical Context for Retinitis Pigmentosa 14

MalaCards organs/tissues related to Retinitis Pigmentosa 14:

⁴¹

Eye

Sources

Publications for Retinitis Pigmentosa 14

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Genes for Retinitis Pigmentosa 14

Genes related to Retinitis Pigmentosa 14 (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TULP1	Tubby Like Protein 1	Protein Coding	1335.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9462750 20301590 10440267 (more) 15557452 17620573 15024725 9462751 18055821
2	CTBP2	C-Terminal Binding Protein 2	Protein Coding	15.75	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	ENO1	Enolase 1	Protein Coding	15.64	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	TUB	Tubby Bipartite Transcription Factor	Protein Coding	15.51	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	KCNN3	Potassium Calcium-Activated Channel Subfamily N Member 3	Protein Coding	15.49	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	ARHGDIA	Rho GDP Dissociation Inhibitor Alpha	Protein Coding	15.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	S100B	S100 Calcium Binding Protein B	Protein Coding	15.07	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	PPIA	Peptidylprolyl Isomerase A	Protein Coding	14.92	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	TEAD3	TEA Domain Transcription Factor 3	Protein Coding	7.49	GeneCards inferred via : Variants (show sections)
10	RPS5	Ribosomal Protein S5	Protein Coding	6.54	DISEASES inferred ¹⁵
11	OTUB1	OTU Deubiquitinase, Ubiquitin Aldehyde Binding 1	Protein Coding	6.48	DISEASES inferred ¹⁵
12	VDAC1	Voltage Dependent Anion Channel 1	Protein Coding	5.95	DISEASES inferred ¹⁵
13	EIF5A	Eukaryotic Translation Initiation Factor 5A	Protein Coding	5.92	DISEASES inferred ¹⁵
14	RPS14	Ribosomal Protein S14	Protein Coding	5.74	DISEASES inferred ¹⁵
15	WDTC1	WD And Tetratricopeptide Repeats 1	Protein Coding	3.44	DISEASES inferred ¹⁵

Sources

Variations for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 14:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TULP1	p.Arg420Pro	VAR_007941	rs121909073
2	TULP1	p.Ile459Lys	VAR_007942	rs121909075
3	TULP1	p.Phe491Leu	VAR_007943	rs121909074
4	TULP1	p.Ala245Val	VAR_008275	rs62636707
5	TULP1	p.Lys261Thr	VAR_008277
6	TULP1	p.Arg378His	VAR_008278	rs148749577
7	TULP1	p.Thr454Met	VAR_008279	rs138200747
8	TULP1	p.Lys489Arg	VAR_008280	rs62636511
9	TULP1	p.Phe382Ser	VAR_037584	rs121909076
10	TULP1	p.Arg482Trp	VAR_065502	rs121909077

ClinVar genetic disease variations for Retinitis Pigmentosa 14:

⁶

(show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TULP1	NM_003322.5(TULP1): c.1259G> C (p.Arg420Pro)	single nucleotide variant	Pathogenic	rs121909073	GRCh37	Chromosome 6, 35471400: 35471400
2	TULP1	NM_003322.5(TULP1): c.1259G> C (p.Arg420Pro)	single nucleotide variant	Pathogenic	rs121909073	GRCh38	Chromosome 6, 35503623: 35503623
3	TULP1	NM_003322.5(TULP1): c.1471T> C (p.Phe491Leu)	single nucleotide variant	Pathogenic	rs121909074	GRCh37	Chromosome 6, 35467782: 35467782
4	TULP1	NM_003322.5(TULP1): c.1471T> C (p.Phe491Leu)	single nucleotide variant	Pathogenic	rs121909074	GRCh38	Chromosome 6, 35500005: 35500005
5	TULP1	NM_003322.5(TULP1): c.1376T> A (p.Ile459Lys)	single nucleotide variant	Pathogenic	rs121909075	GRCh37	Chromosome 6, 35467877: 35467877
6	TULP1	NM_003322.5(TULP1): c.1376T> A (p.Ile459Lys)	single nucleotide variant	Pathogenic	rs121909075	GRCh38	Chromosome 6, 35500100: 35500100
7	TULP1	TULP1, IVS2DS, G-A, +1	single nucleotide variant	Pathogenic
8	TULP1	TULP1, IVS14DS, G-A, +1	single nucleotide variant	Pathogenic
9	TULP1	NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser)	single nucleotide variant	Pathogenic	rs121909076	GRCh37	Chromosome 6, 35471593: 35471593
10	TULP1	NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser)	single nucleotide variant	Pathogenic	rs121909076	GRCh38	Chromosome 6, 35503816: 35503816
11	TULP1	NM_003322.5(TULP1): c.1444C> T (p.Arg482Trp)	single nucleotide variant	Pathogenic	rs121909077	GRCh37	Chromosome 6, 35467809: 35467809
12	TULP1	NM_003322.5(TULP1): c.1444C> T (p.Arg482Trp)	single nucleotide variant	Pathogenic	rs121909077	GRCh38	Chromosome 6, 35500032: 35500032
13	TULP1	TULP1, 11-BP DEL, NT1511	deletion	Pathogenic
14	TULP1	TULP1, IVS7DS, T-C, +2	single nucleotide variant	Pathogenic
15	TULP1	NM_003322.5(TULP1): c.1495+1G> A	single nucleotide variant	Pathogenic	rs281865168	GRCh37	Chromosome 6, 35467757: 35467757
16	TULP1	NM_003322.5(TULP1): c.1495+1G> A	single nucleotide variant	Pathogenic	rs281865168	GRCh38	Chromosome 6, 35499980: 35499980
17	TULP1	NM_003322.5(TULP1): c.1496-6C> A	single nucleotide variant	Likely pathogenic	rs281865171	GRCh37	Chromosome 6, 35466243: 35466243
18	TULP1	NM_003322.5(TULP1): c.1496-6C> A	single nucleotide variant	Likely pathogenic	rs281865171	GRCh38	Chromosome 6, 35498466: 35498466

Sources

Expression for Retinitis Pigmentosa 14

Search GEO for disease gene expression data for Retinitis Pigmentosa 14.

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Pathways for Retinitis Pigmentosa 14

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GO Terms for Retinitis Pigmentosa 14

Cellular components related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	9.9	ARHGDIA CTBP2 EIF5A ENO1 OTUB1 PPIA
2	extracellular exosome	GO:0070062	9.56	ARHGDIA EIF5A ENO1 OTUB1 PPIA RPS14
3	cytosol	GO:0005829	9.36	ARHGDIA CTBP2 EIF5A ENO1 OTUB1 PPIA

Biological processes related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor cell maintenance	GO:0045494	9.37	TUB TULP1
2	positive regulation of phagocytosis	GO:0050766	9.32	TUB TULP1
3	protein localization to cilium	GO:0061512	9.26	TUB TULP1
4	ribosomal small subunit assembly	GO:0000028	9.16	RPS14 RPS5
5	protein localization to photoreceptor outer segment	GO:1903546	8.96	TUB TULP1
6	receptor localization to non-motile cilium	GO:0097500	8.62	TUB TULP1

Molecular functions related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.44	ARHGDIA CTBP2 EIF5A ENO1 OTUB1 PPIA

Sources

Sources for Retinitis Pigmentosa 14

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