Choroideremia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Choroideremia

MalaCards integrated aliases for Choroideremia:

Name: Choroideremia ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ⁷³ ²⁸ ¹² ⁵³ ⁵ ⁴³ ¹⁴ ³⁸ ⁷¹

Chm ⁵⁷ ¹⁹ ⁵⁸ ⁷³

Tcd ⁵⁷ ¹⁹ ⁴² ⁷³

Progressive Tapetochoroidal Dystrophy ¹⁹ ⁴² ⁷³

Choroidal Sclerosis ⁴² ⁷¹

Tapetochoroidal Dystrophy, Progressive ⁵⁷

Progressive Choroidal Atrophy ¹¹

Tapetochoroidal Dystrophy ⁵⁸

Characteristics:

Inheritance:

X-linked recessive ⁵⁸ , X-linked ⁵⁷

Prevelance:

1-9/100000 (Europe) ⁵⁸

Age Of Onset:

Adolescent,Adult,Childhood ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in second to third decade
carrier females show a distinct flecked autofluorescence pattern

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other disorders of choroid

Hereditary choroidal dystrophy

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:9821

OMIM® ⁵⁷ 303100

ICD9CM ³⁴ 363.55

MeSH ⁴³ D015794

NCIt ⁴⁹ C34469

SNOMED-CT ⁶⁸ 75241009

MESH via Orphanet ⁴⁴ D015794

ICD10 via Orphanet ³² H31.2

UMLS via Orphanet ⁷² C0008525

Orphanet ⁵⁸ ORPHA180

MedGen ⁴⁰ C0008525 C0344297

SNOMED-CT via HPO ⁶⁹ 1151008 267628004 274524001 more

UMLS ⁷¹ C0008525 C0344297

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Summaries for Choroideremia

MedlinePlus Genetics: ⁴² Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.

MalaCards based summary: Choroideremia, also known as chm, is related to peripheral retinal degeneration and retinal disease. An important gene associated with Choroideremia is CHM (CHM Rab Escort Protein), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. The drugs Simvastatin and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related phenotypes are abnormality of retinal pigmentation and abnormal electroretinogram

GARD: ¹⁹ Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The rate and degree of vision loss differs for each person. Choroideremia is caused by genetic changes (pathogenic variants) in the CHM gene and is inherited in an X-linked recessive pattern.

OMIM®: ⁵⁷ Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye (Cremers et al., 1990). The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula (Li et al., 2014). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the CHM and POU3F4 (300039) genes on Xq21. X-linked deafness-2 with stapes fixation (DFNX2; 304400) is also caused by mutation in the CHM gene. (303100) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.

Orphanet: ⁵⁸ Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

Wikipedia: ⁷⁵ Choroideremia (/kɒˌrɔɪdɪˈriːmiə/; CHM) is a rare, X-linked recessive form of hereditary retinal... more...

GeneReviews: NBK1337

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Related Diseases for Choroideremia

Diseases related to Choroideremia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 217)

#	Related Disease	Score	Top Affiliating Genes
1	peripheral retinal degeneration	31.3	RPGR RPE65
2	retinal disease	31.0	RPGR RPE65 PRPH2 MIR361
3	retinitis	31.0	RPGR RPE65 PRPH2
4	retinal degeneration	30.9	RPGR RPE65 PRPH2 CYP4V2 CHM AGFG1
5	night blindness	30.9	RPGR RPE65 PRPH2 CYP4V2 CHM
6	choroidal dystrophy, central areolar, 1	30.9	RPGR RPE65 PRPH2 CYP4V2
7	fundus dystrophy	30.6	RPGR RPE65 RAB6A PRPH2 CYP4V2 CHML
8	bietti crystalline corneoretinal dystrophy	30.4	RPGR RPE65 CYP4V2
9	scotoma	30.4	RPGR RPE65 PRPH2 CYP4V2
10	progressive cone dystrophy	30.3	RPGR PRPH2
11	hereditary retinal dystrophy	30.3	RPE65 PRPH2
12	refractive error	30.3	RPGR RPE65 BLOC1S1
13	hereditary choroidal atrophy	30.3	RPE65 PRPH2 CYP4V2
14	retinoschisis 1, x-linked, juvenile	30.3	RPGR RPE65 PRPH2 CHM
15	gyrate atrophy of choroid and retina	30.3	RPGR RPE65 PRPH2 CYP4V2 CHM
16	macular dystrophy, dominant cystoid	30.3	RPGR RPE65
17	color blindness	30.2	RPGR RPE65 PRPH2
18	late-onset retinal degeneration	30.2	RPGR RPE65 PRPH2
19	eye disease	30.2	RPGR RPE65 PRPH2 MIR361 CHM BLOC1S1
20	macular degeneration, age-related, 1	30.2	RPGR RPE65 PRPH2 CHM BLOC1S1
21	usher syndrome type 2	30.2	RPGR RPE65 PRPH2
22	usher syndrome	30.1	RPGR RPE65 PRPH2 CHML CHM BLOC1S1
23	oliver-mcfarlane syndrome	30.1	RPE65 CHM
24	leber plus disease	30.1	RPGR RPE65 PRPH2 CYP4V2 CHML CHM
25	neuronal ceroid lipofuscinosis	30.0	RPE65 RAB7A RAB5A ARSA
26	stargardt disease	29.8	RPGR RPE65 PRPH2 CYP4V2 CHM
27	leber congenital amaurosis 4	29.7	RPE65 PRPH2
28	cone-rod dystrophy 2	29.6	RPGR RPE65 RAB3A PRPH2 CYP4V2 CHM
29	ayazi syndrome	11.5
30	chromosome xq21 deletion syndrome	11.4
31	van den bosch syndrome	11.3
32	deafness, x-linked 2	11.1
33	retinitis pigmentosa 87 with choroidal involvement	11.1
34	tapetoretinal degeneration with ataxia	11.1
35	choroideremia hypopituitarism	11.0
36	retinitis pigmentosa	10.5
37	keratomalacia	10.5
38	inherited retinal disorder	10.5
39	sickle cell anemia	10.4
40	stroke, ischemic	10.4
41	deficiency anemia	10.3
42	cerebrovascular disease	10.3
43	patent foramen ovale	10.3
44	sickle cell disease	10.3
45	partial central choroid dystrophy	10.3	RPE65 PRPH2 CYP4V2
46	night blindness, congenital stationary, type 1a	10.3
47	carotid stenosis	10.3
48	transient cerebral ischemia	10.3
49	red-green color blindness	10.3	RPGR RPE65
50	retinitis pigmentosa 30	10.3	RPGR CYP4V2

Graphical network of the top 20 diseases related to Choroideremia:

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Symptoms & Phenotypes for Choroideremia

Human phenotypes related to Choroideremia:

⁵⁸ ³⁰ (show all 16)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormality of retinal pigmentation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007703
2	abnormal electroretinogram ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000512
3	myopia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000545
4	nyctalopia ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0000662
5	progressive visual loss ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000529
6	hypopigmentation of the fundus ³⁰	Very rare (1%)		HP:0007894
7	constriction of peripheral visual field ³⁰	Very rare (1%)		HP:0001133
8	attenuation of retinal blood vessels ³⁰	Very rare (1%)		HP:0007843
9	bone spicule pigmentation of the retina ³⁰	Very rare (1%)		HP:0007737
10	granular macular appearance ³⁰	Very rare (1%)		HP:0007793
11	nummular pigmentation of the fundus ³⁰	Very rare (1%)		HP:0030505
12	visual impairment ⁵⁸		Very frequent (99-80%)
13	abnormality of the eye ⁵⁸		Very frequent (99-80%)
14	abnormality of vision ⁵⁸		Very frequent (99-80%)
15	choroideremia ³⁰			HP:0001139
16	chorioretinal atrophy ³⁰			HP:0000533

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
night blindness (occurs first)
constricted visual fields (occurs second)
reduced central vision (occurs last)
atrophy around the optic disc (in carrier females)
irregular pigmentation of fundus (in carrier females)
more

Clinical features from OMIM®:

303100 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Choroideremia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation	MP:0001186	9.5	BLOC1S1 CHM PRPH2 RAB27A RABGGTA RPE65
2	vision/eye	MP:0005391	9.28	ARSA BLOC1S1 CHM CYP4V2 PRPH2 RAB27A

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Drugs & Therapeutics for Choroideremia

Drugs for Choroideremia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Simvastatin

Approved

Phase 1, Phase 2

79902-63-9

54454

2

Antimetabolites

Phase 1, Phase 2

3

Hypolipidemic Agents

Phase 1, Phase 2

4

Anticholesteremic Agents

Phase 1, Phase 2

5

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 1, Phase 2

6

Lipid Regulating Agents

Phase 1, Phase 2

7

Vitamin A

Approved, Nutraceutical, Vet_approved

22737-96-8, 68-26-8

5280382 445354

8

Vitamins

9

Trace Elements

10

Antioxidants

11

Micronutrients

12

Retinol palmitate

13

Protective Agents

Interventional clinical trials:

(show all 25)

#	Name	Status	NCT ID	Phase	Drugs
1	A Randomised, Open Label, Outcomes-Assessor Masked, Prospective, Parallel Controlled Group, Phase 3 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1)	Completed	NCT03496012	Phase 3
2	A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Previously Treated With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects With X-Linked Retinitis Pigmentosa Previously Treated With Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study	Enrolling by invitation	NCT03584165	Phase 3
3	A Phase 1/2 Safety Study in Subjects With CHM (Choroideremia) Gene Mutations Using an Adeno-Associated Virus Serotype 2 Vector to Deliver the Normal Human CHM Gene [AAV2-hCHM] to the Retina	Completed	NCT02341807	Phase 1, Phase 2
4	An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)	Completed	NCT02553135	Phase 2
5	An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein-1 (REP1)	Completed	NCT02077361	Phase 1, Phase 2
6	THOR - Tübingen Choroideremia Gene Therapy Trial Open Label Phase 2 Clinical Trial Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)	Completed	NCT02671539	Phase 2
7	An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)	Completed	NCT02407678	Phase 2
8	An Open-Label Safety Study of Retinal Gene Therapy for Choroideremia With Bilateral, Sequential Administration of Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1)	Completed	NCT03507686	Phase 2	BIIB111
9	An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)	Completed	NCT01461213	Phase 1, Phase 2	rAAV2.REP1
10	A Repeated Measures Study of Simvastatin on Choroideremia: Simvastatin Intervention and Reversal in Choroideremia Patients and Age-matched Controls.	Terminated	NCT01654562	Phase 1, Phase 2	Simvastatin
11	Phase 1 Open-Label, Dose-Escalation Study of the Safety, Tolerability and Preliminary Efficacy of Intravitreal 4D-110 in Patients With Choroideremia	Recruiting	NCT04483440	Phase 1
12	Extended Pilot Study to Evaluate Pattern Recognition With a Chronic Retinal Implant System	Unknown status	NCT00427180
13	Natural History of the Progression of Choroideremia Study	Completed	NCT03359551
14	Choroideremia Health Outcomes	Completed	NCT04750785
15	A Retrospective Cohort Analysis of the Natural Disease Progression of Patients With Choroideremia in Real-World Clinical Practice	Completed	NCT04795206
16	Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (Title in France: Compensation of Vision With the Intelligent Retinal Implant System (IRIS V1) in Patients With Retinal Dystrophy)	Completed	NCT01864486
17	Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy	Completed	NCT02670980
18	Safety and Feasibility Study of a Prototype Suprachoroidal Retinal Prosthesis for Vision Restoration	Completed	NCT01603576
19	Evaluation of a Suprachoroidal Retinal Prosthesis: A 44 Channel Fully Implantable Study	Completed	NCT03406416
20	High Resolution Retinal Imaging	Recruiting	NCT01866371
21	Structural and Functional Characterization of Rare Ocular Diseases	Recruiting	NCT05258032
22	Foundation Fighting Blindness My Retina Tracker Registry	Recruiting	NCT02435940
23	Longitudinal Observation and Assessment of the Suprachoroidal Retinal Prostheses	Enrolling by invitation	NCT05158049
24	Characterization of Night Vision Impairment in Choroideremia and Short-Term Vitamin A Supplementation: The Dark-Adapted Retinal Function Response in Choroideremia (DARC) Study	Not yet recruiting	NCT05045703
25	A Multicenter Prospective Observational "Natural History" Study in Patients With Choroideremia	Terminated	NCT02994368

Search NIH Clinical Center for Choroideremia

Cochrane evidence based reviews: choroideremia

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Genetic Tests for Choroideremia

Genetic tests related to Choroideremia:

#	Genetic test	Affiliating Genes
1	Choroideremia ²⁸	CHM

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Anatomical Context for Choroideremia

Organs/tissues related to Choroideremia:

MalaCards : Eye, Retina, Bone, Pituitary, Monocytes, Lung, Endothelial

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Publications for Choroideremia

Articles related to Choroideremia:

(show top 50) (show all 653)

#	Title	Authors	PMID	Year
1	Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. ⁶² ²⁴ ⁵⁷ ⁵	Li S...Zhang Q	24913019	2014
2	Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. ⁶² ²⁴ ⁵⁷ ⁵	van den Hurk JA...Cremers FP	12827496	2003
3	Identification of mutations in Danish choroideremia families. ⁵³ ⁶² ⁵⁷ ⁵	Schwartz M...Cremers FP	8477262	1993
4	Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. ⁶² ⁵⁷ ⁵	Esposito G...Salvatore F	21905166	2011
5	Mutational analysis of patients with the diagnosis of choroideremia. ⁵³ ⁶² ²⁴ ⁵	McTaggart KE...MacDonald IM	12203991	2002
6	A new (old) deletion in the choroideremia gene. ⁶² ⁵⁷ ⁵	Pascal O...Moisan JP	8242078	1993
7	Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. ⁶² ⁵⁷ ⁵	van den Hurk JA...Wieringa B	1598901	1992
8	Cloning and characterization of the human choroideremia gene. ⁶² ²⁴ ⁵	van Bokhoven H...Cremers FP	7981670	1994
9	CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. ⁵³ ⁶² ⁵⁷	Perez-Cano HJ...Zenteno JC	19764077	2009
10	Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. ⁵³ ⁶² ⁵⁷	Mura M...Iannaccone A	17698759	2007
11	Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. ⁵³ ⁶² ⁵	Jacobson SG...MacDonald IM	16936131	2006
12	Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. ⁵³ ⁶² ⁵	Francis PJ...Weleber RG	16087855	2005
13	REP-1 gene mutations in Japanese patients with choroideremia. ⁵³ ⁶² ⁵	Fujiki K...Kanai A	10447648	1999
14	Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. ⁵³ ⁶² ⁵	van den Hurk JA...Cremers FP	9175730	1997
15	Linkage studies and deletion screening in choroideremia. ⁵³ ⁶² ⁵⁷	Wright AF...Jay B	1976814	1990
16	Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants. ⁶² ⁵	McLaren TL...Lamey TM	33110609	2020
17	Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. ⁶² ⁵	Imani S...Fu J	29555028	2018
18	Novel CHM mutations identified in Chinese families with Choroideremia. ⁶² ⁵	Cai XB...Jin ZB	27739455	2016
19	Functional Defects in Color Vision in Patients With Choroideremia. ⁶² ⁵⁷	Jolly JK...MacLaren RE	26133251	2015
20	L1 retrotransposition can occur early in human embryonic development. ⁵³ ⁶² ²⁴	van den Hurk JA...Cremers FP	17483097	2007
21	Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. ⁶² ⁵⁷	Tolmachova T...Seabra MC	16410831	2006
22	Detection of localized retinal dysfunction in a choroideremia carrier. ⁶² ⁵⁷	Cheung MC...Duncan JL	14700671	2004
23	Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. ⁶² ⁵⁷	Grover S...Ryan J	11772598	2002
24	Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. ⁶² ⁵⁷	Syed N...Milam AH	11297488	2001
25	Clinical and genetic features of choroideremia ⁶² ⁵⁷	Ohba N...Isashiki Y	10913657	2000
26	A practical diagnostic test for choroideremia. ⁶² ⁵⁷	MacDonald IM...Seabra MC	9754170	1998
27	Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. ⁶² ⁵⁷	van Bokhoven H...Sankila EM	7981671	1994
28	Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. ⁶² ⁵⁷	Seabra MC...Goldstein JL	8380507	1993
29	Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. ⁶² ⁵⁷	Seabra MC...Goldstein JL	1525821	1992
30	Aberrant splicing of the CHM gene is a significant cause of choroideremia. ⁶² ⁵⁷	Sankila EM...de la Chapelle A	1302003	1992
31	Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. ⁶² ⁵⁷	Cremers FP...Wieringa B	2220804	1990
32	Choroideremia associated with an X-autosomal translocation. ⁶² ⁵⁷	Siu VM...Flintoff WF	2323779	1990
33	DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. ⁶² ⁵⁷	Merry DE...Nussbaum RL	2341150	1990
34	Haplotype and multipoint linkage analysis in Finnish choroideremia families. ⁶² ⁵⁷	Sankila EM...de la Chapelle A	2575071	1989
35	Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. ⁶² ⁵⁷	Schwartz M...Page DC	3422216	1988
36	Deletion of the DXS165 locus in patients with classical choroideremia. ⁶² ⁵⁷	Cremers FP...Ropers HH	3481306	1987
37	Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. ⁶² ⁵⁷	MacDonald IM...Tenniswood MP	2890569	1987
38	Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. ⁶² ⁵⁷	Nussbaum RL...Ledbetter DH	3476958	1987
39	Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence. ⁶² ⁵⁷	Sankila EM...Eriksson A	2886237	1987
40	Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. ⁶² ⁵⁷	Lesko JG...Nussbaum RL	2883887	1987
41	Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. ⁶² ⁵⁷	Hodgson SV...Pembrey ME	3030927	1987
42	Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. ⁶² ⁵⁷	Schwartz M...Lamm LU	2878872	1986
43	Choroideremia-locus maps between DXS3 and DXS11 on Xq. ⁶² ⁵⁷	Gal A...Pawlowitzki IH	3755117	1986
44	Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. ⁶² ⁵⁷	Nussbaum RL...Ferrell R	2988333	1985
45	X-linked choroidal sclerosis. A stage of choroideremia. ⁶² ⁵⁷	Shapiro I...Gorlin RJ	4827609	1974
46	Choroideremia and the Xg locus: another look for linkage. ⁶² ⁵⁷	Bell AG...McCulloch JC	5146581	1971
47	Choroideremia. Visual defects in a heterozygote. ⁶² ⁵⁷	Harris GS...Miller JR	5302677	1968
48	Choroidal sclerosis; a possible intermediate sex-linked form. ⁶² ⁵⁷	SORSBY A...SAVORY M	13293325	1956
49	Choroideremia; clinical and genetic aspects. ⁶² ⁵⁷	SORSBY A...DAVEY JB	12978235	1952
50	A hereditary and clinical study of choroideremia. ⁶² ⁵⁷	McCULLOCH C...McCULLOCH RJ	18901798	1948

Sources

Genes for Choroideremia

Genes related to Choroideremia (2 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CHM	CHM Rab Escort Protein	Protein Coding	1736.82	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	1598901 7981670 8242078 (more) 8477262 9175730 12827496 16087855 21905166 24913019 27739455 29555028 33110609 16936131 12203991 10447648 8749050 17698759 9349950 8294464 10420193 9067750 14983050 20027300 11886217 9196401 19597113 17333094 14566650 12576024 19741243 12401133 9678418 19764077 10589235 11489211 9499978 1979308 1976814 17483097 15370541 12014918 10420196 10571040 9894161 15579993 15186776 12668061 15225095 19422966
2	PRPH2	Peripherin 2	Protein Coding	406.79	Pathogenic ⁵ DISEASES inferred ¹⁴
3	CHML	CHM Like Rab Escort Protein	Protein Coding	46.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Gene name Proteins (show sections)	8294464
4	AGFG1	ArfGAP With FG Repeats 1	Protein Coding	22.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9009830 11796263 14597139 (more) 18463892
5	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	16.48	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
6	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	15.02	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	RAB6A	RAB6A, Member RAS Oncogene Family	Protein Coding	13.92	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	RAB1A	RAB1A, Member RAS Oncogene Family	Protein Coding	13.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	CYP4V2	Cytochrome P450 Family 4 Subfamily V Member 2	Protein Coding	13.27	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	13.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
11	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	12.85	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
12	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	12.33	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
13	RABGGTA	Rab Geranylgeranyltransferase Subunit Alpha	Protein Coding	12.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	RABGGTB	Rab Geranylgeranyltransferase Subunit Beta	Protein Coding	12.17	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	ARSA	Arylsulfatase A	Protein Coding	10.88	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
16	UPF1	UPF1 RNA Helicase And ATPase	Protein Coding	10.86	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	BLOC1S1	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1	Protein Coding	8.67	DISEASES inferred ¹⁴ ¹⁴
18	MIR361	MicroRNA 361	RNA Gene	8.18	DISEASES inferred ¹⁴ ¹⁴
19	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	7.99	DISEASES inferred ¹⁴
20	DELXQ21	Choroideremia, Deafness, And Mental Retardation	Genetic Locus	7.74	GeneCards inferred via : Gene name (show sections)
21	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	7.52	DISEASES inferred ¹⁴
22	SERPINF1	Serpin Family F Member 1	Protein Coding	7.31	GeneCards inferred via : Publications (show sections)
23	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	7.28	DISEASES inferred ¹⁴
24	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	7.16	DISEASES inferred ¹⁴
25	USH2A	Usherin	Protein Coding	7.12	DISEASES inferred ¹⁴
26	CEP290	Centrosomal Protein 290	Protein Coding	6.8	DISEASES inferred ¹⁴
27	BEST1	Bestrophin 1	Protein Coding	6.75	DISEASES inferred ¹⁴
28	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	6.71	DISEASES inferred ¹⁴
29	RHO	Rhodopsin	Protein Coding	6.66	DISEASES inferred ¹⁴
30	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	6.58	DISEASES inferred ¹⁴
31	EYS	Eyes Shut Homolog	Protein Coding	6.54	DISEASES inferred ¹⁴
32	MYO7A	Myosin VIIA	Protein Coding	6.5	DISEASES inferred ¹⁴
33	PRPF31	Pre-MRNA Processing Factor 31	Protein Coding	6.34	DISEASES inferred ¹⁴
34	RS1	Retinoschisin 1	Protein Coding	6.34	DISEASES inferred ¹⁴

Sources

Variations for Choroideremia

ClinVar genetic disease variations for Choroideremia:

⁵ (show top 50) (show all 112)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CHM	NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)	INDEL	Pathogenic	11148	rs132630263	GRCh37: X:85155705-85155706 GRCh38: X:85900700-85900701
2	CHM	NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)	SNV	Pathogenic	11150	rs132630265	GRCh37: X:85149232-85149232 GRCh38: X:85894227-85894227
3	CHM	NM_000390.4(CHM):c.1520A>G (p.His507Arg)	SNV	Pathogenic	39809	rs397514603	GRCh37: X:85134059-85134059 GRCh38: X:85879054-85879054
4	CHM	NM_000390.4(CHM):c.280del (p.Thr94fs)	DEL	Pathogenic	440813	rs1555958073	GRCh37: X:85233805-85233805 GRCh38: X:85978801-85978801
5	CHM	NM_000390.4(CHM):c.660del (p.Ile221fs)	DEL	Pathogenic	635551	rs1603264410	GRCh37: X:85218712-85218712 GRCh38: X:85963707-85963707
6	CHM	NC_000023.10:g.85296959_85303375inv	INVERS	Pathogenic	635965		GRCh37: X:85296960-85303374 GRCh38: X:86041956-86048370
7	CHM	NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)	SNV	Pathogenic	804045	rs1603236385	GRCh37: X:85134006-85134006 GRCh38: X:85879001-85879001
8	CHM	NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs)	DUP	Pathogenic	804046	rs1603262410	GRCh37: X:85211267-85211268 GRCh38: X:85956262-85956263
9	CHM	NM_000390.4(CHM):c.820-2A>G	SNV	Pathogenic	449468	rs1556307713	GRCh37: X:85212982-85212982 GRCh38: X:85957977-85957977
10	CHM	NM_000390.4(CHM):c.29_30del (p.Asp10fs)	DEL	Pathogenic	804047	rs1603288815	GRCh37: X:85302507-85302508 GRCh38: X:86047503-86047504
11	CHM	NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)	SNV	Pathogenic	812267	rs1603244690	GRCh37: X:85156124-85156124 GRCh38: X:85901119-85901119
12	CHM	NM_000390.4(CHM):c.819+1G>C	SNV	Pathogenic	812268	rs1603263147	GRCh37: X:85213865-85213865 GRCh38: X:85958860-85958860
13	CHM	NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs)	INDEL	Pathogenic	813164	rs1930439753	GRCh37: X:85218973-85218986 GRCh38: X:85963968-85963981
14	CHM	NM_000390.4(CHM):c.419del (p.Pro140fs)	DEL	Pathogenic	813165	rs1930438584	GRCh37: X:85218953-85218953 GRCh38: X:85963948-85963948
15	CHM	NM_000390.4(CHM):c.469C>T (p.Gln157Ter)	SNV	Pathogenic	813166	rs1930431885	GRCh37: X:85218903-85218903 GRCh38: X:85963898-85963898
16	CHM	NM_000390.4(CHM):c.498_499dup (p.Leu167fs)	MICROSAT	Pathogenic	813167	rs1930428430	GRCh37: X:85218872-85218873 GRCh38: X:85963867-85963868
17	CHM	NM_000390.4(CHM):c.232C>T (p.Gln78Ter)	SNV	Pathogenic	1178351		GRCh37: X:85233853-85233853 GRCh38: X:85978849-85978849
18	CHM	NM_000390.4(CHM):c.856C>T (p.Gln286Ter)	SNV	Pathogenic	1213973		GRCh37: X:85212944-85212944 GRCh38: X:85957939-85957939
19	CHM	NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)	SNV	Pathogenic	1213974		GRCh37: X:85211258-85211258 GRCh38: X:85956253-85956253
20	CHM	NM_000390.4(CHM):c.703-2A>G	SNV	Pathogenic	1330296		GRCh37: X:85213984-85213984 GRCh38: X:85958979-85958979
21	CHM	NM_000390.4(CHM):c.846dup (p.Asn283Ter)	DUP	Pathogenic	1330298		GRCh37: X:85212953-85212954 GRCh38: X:85957948-85957949
22	CHM	NM_000390.4(CHM):c.187C>T (p.Gln63Ter)	SNV	Pathogenic	1675198		GRCh37: X:85236743-85236743 GRCh38: X:85981739-85981739
23	CHM	NM_000390.4(CHM):c.808C>T (p.Arg270Ter)	SNV	Pathogenic	143078	rs527236048	GRCh37: X:85213877-85213877 GRCh38: X:85958872-85958872
24	CHM	NM_000390.4(CHM):c.1350-1G>A	SNV	Pathogenic	1685630		GRCh37: X:85155715-85155715 GRCh38: X:85900710-85900710
25	CHM	NM_000390.4(CHM):c.961del (p.Tyr321fs)	DEL	Pathogenic	1685631		GRCh37: X:85211363-85211363 GRCh38: X:85956358-85956358
26	CHM	NM_000390.4(CHM):c.437T>G (p.Leu146Ter)	SNV	Pathogenic	1685632		GRCh37: X:85218935-85218935 GRCh38: X:85963930-85963930
27	CHM	NM_000390.4(CHM):c.1680del (p.Ser561fs)	DEL	Pathogenic	546493	rs1556207100	GRCh37: X:85128147-85128147 GRCh38: X:85873142-85873142
28	CHM	NM_000390.4(CHM):c.799C>T (p.Arg267Ter)	SNV	Pathogenic	279775	rs886041179	GRCh37: X:85213886-85213886 GRCh38: X:85958881-85958881
29	CHM	NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer)	DUP	Pathogenic	1691447		GRCh37: X:85218981-85218982 GRCh38: X:85963976-85963977
30	CHM	NM_000390.4(CHM):c.564_565del (p.Pro189fs)	DEL	Pathogenic	812269	rs1603264449	GRCh37: X:85218807-85218808 GRCh38: X:85963802-85963803
31	CHM	NM_000390.4(CHM):c.1166+1G>C	SNV	Pathogenic	1075553		GRCh37: X:85211157-85211157 GRCh38: X:85956152-85956152
32	CHM	NM_000390.4(CHM):c.652_655del (p.Ser218fs)	DEL	Pathogenic	937037	rs1930413413	GRCh37: X:85218717-85218720 GRCh38: X:85963712-85963715
33	CHM	NM_000390.2:c.315_702del	DEL	Pathogenic	812270		GRCh37: GRCh38:
34	CHM	NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT	INSERT	Pathogenic	11156		GRCh37: GRCh38:
35	CHM	NM_000390.4(CHM):c.1446del (p.Gly483fs)	DEL	Pathogenic	866059	rs1244003380	GRCh37: X:85149257-85149257 GRCh38: X:85894252-85894252
36	CHM	NM_000390.4(CHM):c.1609+2dup	DUP	Pathogenic	56224	rs386833676	GRCh37: X:85133967-85133968 GRCh38: X:85878962-85878963
37	CHM	NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)	SNV	Pathogenic	11149	rs132630264	GRCh37: X:85149219-85149219 GRCh38: X:85894214-85894214
38	CHM	NM_000390.4(CHM):c.877C>T (p.Arg293Ter)	SNV	Pathogenic	11154	rs132630266	GRCh37: X:85212923-85212923 GRCh38: X:85957918-85957918
39	CHM	NM_000390.4(CHM):c.715C>T (p.Arg239Ter)	SNV	Pathogenic	285756	rs776256380	GRCh37: X:85213970-85213970 GRCh38: X:85958965-85958965
40	CHM	NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	SNV	Pathogenic	635534	rs1603288832	GRCh37: X:85302515-85302515 GRCh38: X:86047511-86047511
41	CHM	NM_000390.4(CHM):c.1413+1G>T	SNV	Pathogenic	813168	rs1926202120	GRCh37: X:85155650-85155650 GRCh38: X:85900645-85900645
42	CHM	NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)	DEL	Pathogenic	871857	rs1924193863	GRCh37: X:85128172-85128176 GRCh38: X:85873167-85873171
43	CHM	NM_000390.4(CHM):c.1584_1587del (p.Val529fs)	MICROSAT	Pathogenic	11152	rs587776746	GRCh37: X:85133992-85133995 GRCh38: X:85878987-85878990
44	PRPH2	NM_000322.5(PRPH2):c.828+3A>T	SNV	Pathogenic	98713	rs281865373	GRCh37: 6:42672100-42672100 GRCh38: 6:42704362-42704362
45	CHM	NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)	SNV	Pathogenic	11153	rs132630267	GRCh37: X:85149206-85149206 GRCh38: X:85894201-85894201
46	CHM	NM_000390.4(CHM):c.315-1536A>G	SNV	Likely Pathogenic	438064	rs1555955061	GRCh37: X:85220593-85220593 GRCh38: X:85965588-85965588
47	CHM	NM_000390.4(CHM):c.82_83del (p.Ser28fs)	DEL	Likely Pathogenic	1724007		GRCh37: X:85282528-85282529 GRCh38: X:86027524-86027525
48	CHM	NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs)	INSERT	Likely Pathogenic	1725429		GRCh37: X:85282540-85282541 GRCh38: X:86027536-86027537
49	CHM	NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)	SNV	Likely Pathogenic	1725523		GRCh37: X:85236801-85236801 GRCh38: X:85981797-85981797
50	CHM	NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)	SNV	Likely Pathogenic	1725706		GRCh37: X:85166324-85166324 GRCh38: X:85911319-85911319

UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CHM	p.Gln471Leu	VAR_008273
2	CHM	p.His507Arg	VAR_066847	rs397514603
3	CHM	p.Leu550Pro	VAR_066848

Copy number variations for Choroideremia from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	265570	X	84500000	86200000	Deletion	CHM	Choroideremia

Sources

Expression for Choroideremia

Search GEO for disease gene expression data for Choroideremia.

Sources

Pathways for Choroideremia

Pathways related to Choroideremia according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.68	RABGGTB RABGGTA RAB7A RAB6A RAB5A RAB3A
2	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	13.07	AGFG1 BLOC1S1 CHM CHML RAB1A RAB27A
3	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.63	RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
4	Cytoskeletal Signaling ³	12.29	RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
5	Autophagy pathway ⁶⁷ Show member pathways AKT Signaling Pathway ⁶⁷	12.11	RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
6	Rab regulation of trafficking ⁶⁶ Show member pathways RAB GEFs exchange GTP for GDP on RABs ⁶⁶ TBC/RABGAPs ⁶⁶	11.97	RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
7	TP53 Regulates Transcription of Cell Death Genes ⁶⁶ Show member pathways The IPAF inflammasome ⁶⁶ TP53 Regulates Transcription of Caspase Activators and Caspases ⁶⁶ TP53 Regulates Transcription of Death Receptors and Ligands ⁶⁶ TP53 Regulates Transcription of Genes Involved in Cytochrome C Release ⁶⁶ TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain ⁶⁶	11.65	RABGGTB RABGGTA CHM
8	RAB geranylgeranylation ⁶⁶	11.14	RABGGTB RABGGTA RAB7A RAB6A RAB5A RAB3A
9	Intracellular trafficking proteins involved in CMT neuropathy ⁷⁴	10.93	RAB7A RAB3A
10	Signaling events mediated by PRL ⁶¹	10.82	RABGGTB RABGGTA
11	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) ²²	10.51	RAB7A RAB27A

Sources

GO Terms for Choroideremia

Cellular components related to Choroideremia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosome	GO:0005764	9.97	RAB7A RAB3A RAB27A BLOC1S1 ARSA
2	endosome	GO:0005768	9.86	ARSA RAB1A RAB27A RAB3A RAB5A RAB7A
3	photoreceptor outer segment	GO:0001750	9.85	RPGR RAB27A PRPH2
4	secretory granule membrane	GO:0030667	9.76	RAB7A RAB6A RAB3A RAB27A
5	Rab-protein geranylgeranyltransferase complex	GO:0005968	9.23	RABGGTB RABGGTA CHML CHM
6	obsolete anchored component of synaptic vesicle membrane	GO:0098993	9.13	RAB7A RAB5A RAB3A

Biological processes related to Choroideremia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.98	RPGR RPE65 PRPH2 CYP4V2 CHM
2	vesicle-mediated transport	GO:0016192	9.97	RAB6A RAB27A RAB1A CHML CHM
3	intracellular protein transport	GO:0006886	9.93	RPGR RAB6A RAB5A RAB3A RAB1A CHML
4	visual perception	GO:0007601	9.8	RPGR RPE65 RABGGTB RABGGTA PRPH2 CYP4V2
5	synaptic vesicle recycling	GO:0036465	9.78	RAB5A RAB3A
6	regulation of endosome size	GO:0051036	9.76	RAB5A BLOC1S1
7	positive regulation of exocytosis	GO:0045921	9.73	RAB27A RAB3A RAB5A
8	positive regulation of regulated secretory pathway	GO:1903307	9.67	RAB3A RAB27A
9	protein prenylation	GO:0018342	9.58	RABGGTB RABGGTA
10	protein geranylgeranylation	GO:0018344	9.23	RABGGTB RABGGTA CHML CHM

Molecular functions related to Choroideremia according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	small GTPase binding	GO:0031267	10.1	RABGGTB RABGGTA RAB7A CHML CHM
2	GTP binding	GO:0005525	10.1	RAB1A RAB27A RAB3A RAB5A RAB6A RAB7A
3	GTPase activity	GO:0003924	10.03	RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
4	hydrolase activity	GO:0016787	10	UPF1 RPE65 RAB7A RAB5A RAB27A RAB1A
5	GDP binding	GO:0019003	9.95	RAB7A RAB5A RAB27A
6	GDP-dissociation inhibitor activity	GO:0005092	9.8	CHML CHM
7	myosin V binding	GO:0031489	9.63	RAB6A RAB3A RAB27A
8	G protein activity	GO:0003925	9.56	RAB7A RAB5A RAB27A RAB1A
9	prenyltransferase activity	GO:0004659	9.43	RABGGTB RABGGTA
10	protein prenyltransferase activity	GO:0008318	9.37	RABGGTB RABGGTA
11	Rab geranylgeranyltransferase activity	GO:0004663	9.1	RABGGTB RABGGTA CHM

Sources

Sources for Choroideremia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CHM MCID: CHR081 MIFTS: 59	Choroideremia (CHM) Categories: Blood diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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