Albinism malady

NIH Rare Diseases: Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer. Albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner. Although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.³⁰

MalaCards: Albinism is related to oculocutaneous albinism and ocular albinism. An important gene associated with Albinism is GPR143 (G protein-coupled receptor 143), and among its related pathways are Melanogenesis and Glutathione metabolism. The compounds dopachrome and levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin, and related mouse phenotypes are pigmentation and craniofacial.

Wikipedia: Albinism (from Latin albus, \"white\"; see extended etymology, also called achromia, achromasia, or...⁴⁴ more...

albinism 7 44 30 17 32

Diseases related to albinism by text searches and GeneDecks gene sharing:

(show top 50)    (show all 453)

id	Related Disease	Score	Top Affiliating Genes
1	oculocutaneous albinism	38.3	RAB38, AP3B1, MC1R, TYR, TYRP1, OCA2
2	ocular albinism	37.0	RECK, MITF, GPBAR1, GPR143, GK, TYR
3	oculocutaneous albinism type 1	35.2	HPS1, HPS3, CTSC, TYR, TYRL, OCA2
4	oculocutaneous albinism type 2	34.3	MC1R, TYR, OCA2
5	hermansky-pudlak syndrome	31.9	RAB27A, RAB38, BLOC1S3, CD63, GSR, AP3B1
6	microphthalmia	30.9	KIT, RAB27A, CLCN4, PAX3, PAX6, MLANA
7	nystagmus	30.8	RECK, PAX6, ATCAY, KAL1, FRMD7, MC1R
8	ocular albinism with sensorineural deafness	30.7	MITF, OA1, OASD
9	chediak-higashi syndrome	30.6	RAB27A, GUSB, AP3B1, HPS1, TYR, TYRP1
10	waardenburg's syndrome	29.9	KIT, PAX3, PAX6, MITF, EDNRB, TYR
11	microphthalmia with linear skin defects	29.1	CLCN4, MLS, HCCS
12	ichthyosis	28.8	VCX, VCX2, VCX3A, VCX3B, XG, XGPY2
13	waardenburg syndrome type 2	28.4	PAX3, MITF, EDNRB, TYR
14	piebaldism	28.3	KIT, RAB27A, PAX3, MLPH, MITF, HPS1
15	x inactivation	27.9	FRMD7, ARSE, AR, HPRT1, PLP1, HCCS
16	chondrodysplasia punctata	27.8	XG, ARSH, ARSE, GPR143, STS
17	kallmann syndrome	27.7	VCX, VCX2, VCX3A, VCX3B, XG, KAL1
18	duchenne muscular dystrophy	27.5	AR, F2, GK, DTNBP1, PVALB, OED
19	cerebellar ataxia	27.1	PAX6, SCAR2, SCARB1, ATCAY, GRM1, HTT
20	bipolar disorder	25.6	KIT, CHAT, LAMP3, GSTM1, GSTT1, GRIA1
21	meningitis	25.4	GUSB, GSR, IL17A, IFNA1, IFNG, ALB
22	ataxia	24.3	NBN, BLM, PAX6, SCAR2, SCARB1, XRCC1
23	retinitis	23.0	KIT, RAB27A, BLVRB, PAX3, PAX6, SCARB1
24	schizophrenia	21.1	NAT1, NAT2, BLOC1S3, ZFYVE20, PAX6, SCZD2
25	x-linked infantile nystagmus	14.4	RECK, PAX6, FRMD7, MC1R, GPR143, TYR
26	carney complex	14.3	KIT, MLANA, MITF, HPS1, TYR, TYRP1
27	hyperpigmentation of eyelid	14.1	KIT, MITF, TYR, TYRP1
28	pigmentation disease	14.1	KIT, MITF, TYR
29	hermansky-pudlak syndrome 1	14.1	AP3B1, HPS1, HPS4
30	juvenile xanthogranuloma	14.1	KIT, MLANA, TYR, PMEL
31	hermansky-pudlak syndrome 3	14.1	HPS3, HPS5, HPS6
32	skin/hair/eye pigmentation 1, blond/brown hair	14.1	HCL3, HERC2, OCA2
33	skin/hair/eye pigmentation 1, blue/nonblue eyes	14.1	HCL3, HERC2, OCA2
34	pigment disorder	14.0	KIT, MITF, TYR
35	nevus	14.0	KIT, XRCC3, MLANA, MITF, MC1R, HPS1
36	intraocular melanoma	14.0	MLANA, MITF, MC1R, TYR, PMEL
37	x-linked ichthyosis	14.0	VCX3A, ARSH, STS
38	mast cell neoplasm	13.9	RECK, KIT, CANX, CTSC
39	perivascular epithelioid cell tumor	13.7	KIT, MLANA, MITF, PMEL
40	hirschsprung's disease	13.7	BLVRB, PAX3, MITF, EDNRB, ACHE, NPY
41	drug addiction	13.7	GRM5, HCRT, SLC18A2, GABBR1
42	was-related disorders	13.7	RAB27A, PAX6, AP3B1, GNAI1, HPS1, DTNBP1
43	neurilemmoma	13.6	KIT, MITF, SNCG, SNCA, ACHE, GFAP
44	xeroderma pigmentosum, group d	13.6	XRCC1, XRCC4, XPC, ERCC2
45	protein-losing enteropathy	13.6	GCG, HPS1, HPS4, SST
46	labyrinthitis	13.6	CHAT, F3, CALB1, NPY
47	orolaryngeal cancer	13.6	GSTM1, EPHX1, EPHX2
48	cocaine abuse	13.5	RECK, SNCA, PLP1, SLC6A4, SLC18A2
49	platelet storage pool deficiency	13.5	RAB38, BLOC1S3, CD63, AP3B1, HPS1, HPS3
50	apraxia	13.5	XRCC1, XRCC4, ATCAY, HTT, CBS, TTPA

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to albinism:

²²

MGI Mouse Phenotypes related to albinism:

²⁵ (show all 25)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	10.4	KIT, RAB27A, RAB38, BLOC1S3, BLOC1S6, PAX3
2	craniofacial phenotype	MP:0005382	10.1	HPS1, HPS4, HPS5, HPS6, SHROOM3, EDNRB
3	hearing/vestibular/ear phenotype	MP:0005377	9.9	HPS4, HPS5, HPS6, EDNRB, ACHE, TYRP1
4	limbs/digits/tail phenotype	MP:0005371	9.7	CBS, HPS1, HPS5, EDNRB, TYR, OCA2
5	hematopoietic system phenotype	MP:0005397	9.6	HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6
6	no phenotypic analysis	MP:0003012	9.5	EDNRB, PNKD, SNCA, SST, HPS5, ACHE
7	endocrine/exocrine gland phenotype	MP:0005379	9.5	GPRC6A, IFNG, HTT, HPRT1, HERC2, TYR
8	embryogenesis phenotype	MP:0005380	9.2	HTT, F2, CBS, CALR, SHROOM3, EDNRB
9	renal/urinary system phenotype	MP:0005367	9.0	HPS5, DTNBP1, SNCA, EDNRB, TYR, OCA2
10	adipose tissue phenotype	MP:0005375	8.9	RMI1, NPY, OCA2, ACHE, NOS2, NQO1
11	skeleton phenotype	MP:0005390	8.9	HTT, ERCC2, SNCA, SHROOM3, EDNRB, TYR
12	vision/eye phenotype	MP:0005391	8.6	NOS2, SLC18A2, LYST, ADORA2A, SLC24A5, SLC45A2
13	immune system phenotype	MP:0005387	8.6	ERCC2, HPS6, HPS5, HPS3, HPS1, HPRT1
14	tumorigenesis	MP:0002006	8.3	ERCC2, HPRT1, F3, IFNG, NQO1, NOS2
15	reproductive system phenotype	MP:0005389	7.8	NOS2, PLP1, SNCA, ERCC2, HPRT1, CBS
16	muscle phenotype	MP:0005369	7.6	NOS2, EDNRB, ACHE, HCCS, HCRT, HCRTR2
17	nervous system phenotype	MP:0003631	7.5	TYRP1, GABBR1, ADORA2A, TTPA, PVALB, DCT
18	cardiovascular system phenotype	MP:0005385	7.2	EDNRB, NOS2, SNCA, HPS6, HPS5, HPS4
19	integument phenotype	MP:0010771	7.1	RECK, KIT, RAB27A, RAB38, BLM, BLOC1S3
20	normal phenotype	MP:0002873	7.1	HTT, F2, ALB, HPRT1, SST, CTSC
21	cellular phenotype	MP:0005384	6.7	SNCA, SNCG, CTSC, ERCC2, HPS4, HPS1
22	mortality/aging	MP:0010768	6.3	EDNRB, SHROOM3, NOS2, PLP1, SNCA, GK
23	growth/size phenotype	MP:0005378	5.9	BLOC1S6, PAX3, PAX6, CHAT, LAMTOR2, XRCC1
24	behavior/neurological phenotype	MP:0005386	5.5	OCA2, GABRA5, GABBR1, SOBP, NPY, SLC45A2
25	homeostasis/metabolism phenotype	MP:0005376	4.1	DTNBP1, HCRT, GFAP, TYR, TYRP1, TTPA

Articles related to albinism:

(show top 50)    (show all 187)

id	Title	Authors	Year	Affiliating Genes
1	Molecular and functional studies of tyrosinase varian ts among Indian oculocutaneous albinism type 1 patients. (20861851)	Chaki M.... Ray K.	2011	TYR
2	Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indi cating albinism. (21541274)	Preising M.N.... Lorenz B.	2011	TYR, MC1R, OCA2
3	The ocular albinism type 1 (OA1) GPCR is ubiquitinate d and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function. (21730137)	Giordano F.... Raposo G.	2011	GPR143
4	Comprehensive analysis of the molecular basis of ocul ocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gen e. (20426782)	Sengupta M.... Ray K.	2010	TYR
5	Identification of a novel mutation in a Chinese family with X-linked ocular albinism. (19123159)	Wang Y.... Lian S.	2009	GPR143
6	AAV-mediated tyrosinase gene transfer restores melano genesis and retinal function in a model of oculo-cutaneous albinism type I (OCA 1). (19436266)	Gargiulo A.... Surace E.M.	2009	TYR
7	GPR143 mutational analysis in two Italian families wi th X-linked ocular albinism. (19604113)	Micale L.... Merla G.	2009	RECK, GPR143
8	SLC45A2 variations in Indian oculocutaneous albinism patients. (17768386)	Sengupta M.... Ray K.	2007	SLC45A2
9	Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. (17767372)	Aquaron R.... Grandchamp B.	2007	OCA2
10	Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter. (17931990)	Poot M.... Beemer F.A.	2007	OCA2
11	Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families. (17385796)	Hongyi L.... Weiying J.	2007	OCA2
12	Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. (16754205)	Sallmann G.B.... Carden S.M.	2006	GPR143
13	Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. (16550551)	Vetrini F.... Marigo V.	2006	GPR143
14	Prenatal gene diagnosis of oculocutaneous albinism type I (16767664)	Li H.Y.... Chen L.M.	2006	TYR
15	Is autosomal recessive deafness associated with oculocutaneous albinism a 'coincidence syndrome'? (16868655)	Lezirovitz K.... Mingroni-Netto R.C.	2006	SLC45A2
16	A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. (17041891)	Schreyer-Shafir N.... Blumenfeld A.	2006	LAMP3, HPS6
17	Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. (16323556)	Hou J.W.	2005	GPR143
18	Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. (15565285)	Ikinciogullari A.... Babacan E.	2005	C6
19	Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. (14961451)	Inagaki K.... Tomita Y.	2004	SLC45A2
20	Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. (15635296)	Sundaresan P.... Namperumalsamy P.	2004	TYR
21	A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. (12469324)	Yi Z.... Brilliant M.H.	2003	OCA2
22	MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (12876664)	King R.A.... Oetting W.S.	2003	MC1R, OCA2
23	Mutation analysis of the tyrosinase gene in oculocutaneous albinism. (11295837)	Camand O.... Abitbol M.	2001	TYR
24	Electron microscopic DOPA reaction test for oculocutaneous albinism. (10929771)	Takizawa Y.... Shimizu H.	2000	TYR
25	Molecular basis of albinism in the rhesus monkey. (10751629)	Ding B.... Zhang Y.	2000	TYR
26	Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience. (10441617)	Rosenmann E.... Blumenfeld A.	1999	TYR
27	Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (10094567)	Oetting W.S.... King R.A.	1999	TYR, OCA2, GPR143
28	Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). (9546825)	Amiel J.... Winter R.M.	1998	MITF
29	Thrombocyte dysfunction in children with albinism (9139250)	Pap Z.... Muszbek L.	1997	F2, F3
30	Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as 'OCA3'. (8651291)	Boissy R.E.... Nordlund J.J.	1996	TYR, TYRP1, OCA2
31	Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. (8889556)	Bassi M.T.... Ballabio A.	1996	GPR143
32	The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. (8799153)	Schiaffino M.V.... Ballabio A.	1996	RECK, GPR143
33	Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. (8618053)	Schnur R.E.... Spritz R.A.	1996	TYR
34	Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. (8634705)	Schiaffino M.V.... Ballabio A.	1995	GPR143
35	Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). (7762554)	Spritz R.A.... Luande J.	1995	OCA2
36	Ophthalmic features of minimal pigment oculocutaneous albinism. (8190479)	Summers C.G.... King R.A.	1994	TYR
37	Initiation codon mutation of the tyrosinase gene as a cause of human albinism. (7955413)	Breimer L.H.... Jay M.	1994	TYR
38	Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. (8302318)	Lee S.T.... Spritz R.A.	1994	TYR, OCA2
39	Oculocutaneous Albinism Type 4 (20301683)	Suzuki T.... Hayashi M.	1993	SLC45A2
40	Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). (7902671)	Tripathi R.K.... Spritz R.A.	1993	TYR
41	Ocular Albinism, X-Linked (20301517)	Lewis R.A.	1993	GPR143
42	A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. (8434585)	Oetting W.S.... King R.A.	1993	TYR
43	Do pigmented naevi in albinism provide evidence of tyrosinase positivity? (1476926)	Akiyama M.... Nishikawa T.	1992	TYR
44	Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? (1632442)	Rose N.C.... Zackai E.H.	1992	OA3
45	The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. (1415228)	Ramsay M.... Jenkins T.	1992	OCA2
46	A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. (1832718)	Giebel L.B.... Spritz R.A.	1991	TYR
47	A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. (1711223)	Chintamaneni C.D.... Kwon B.S.	1991	TYR
48	Tyrosinase gene mutations associated with type IB ('yellow') oculocutaneous albinism. (1903591)	Giebel L.B.... Spritz R.A.	1991	TYR
49	Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. (1905879)	Oetting W.S.... King R.A.	1991	TYR
50	Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. (2349949)	Shiloh Y.... White B.N.	1990	ADFN

Genes related to albinism according to GeneCards:

(show top 50)    (show all 157)

id	Symbol	Description	Score	GeneCards Section Context
1	GPR143	G protein-coupled receptor 143	11.1	Summaries, Publications, Domains & Families, Aliases & Descriptions
2	OCA2	oculocutaneous albinism II	11.1	Aliases & Descriptions, Transcripts, Summaries, Publications (show all 5 sections) Orthologs
3	TYR	tyrosinase (oculocutaneous albinism IA)	11.1	UniProt Related, Orthologs, Publications, Aliases & Descriptions (show all 6 sections) Transcripts, Summaries
4	TYRP1	tyrosinase-related protein 1	11.1	Publications, Summaries
5	SLC45A2	solute carrier family 45, member 2	11.1	Summaries, Publications
6	HPS4	Hermansky-Pudlak syndrome 4	11.1	Summaries, Publications
7	OASD	ocular albinism and sensorineural deafness	11.0	Aliases & Descriptions
8	BLOC1S3	biogenesis of lysosomal organelles complex-1, subunit 3	11.0	Summaries
9	CLCN4	chloride channel, voltage-sensitive 4	11.0	Summaries, Publications
10	SHROOM2	shroom family member 2	11.0	Publications, Summaries
11	OA3	ocular albinism 3 (autosomal recessive)	11.0	Publications, Aliases & Descriptions
12	ADFN	albinism-deafness syndrome	11.0	Aliases & Descriptions, Publications
13	GPR143P	G protein-coupled receptor 143 pseudogene	11.0	Aliases & Descriptions
14	MITF	microphthalmia-associated transcription factor	11.0	Publications
15	MC1R	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	11.0	Publications
16	TBL1X	transducin (beta)-like 1X-linked	11.0	Summaries
17	HPS1	Hermansky-Pudlak syndrome 1	11.0	Publications
18	HCL3	hair color 3 (brown)	11.0
19	CACNA1F	calcium channel, voltage-dependent, L type, alpha 1F subunit	11.0	Aliases & Descriptions
20	OA1	Osteoarthritis QTL 1	11.0
21	TYRL	tyrosinase-like (pseudogene)	11.0	Publications
22	SLC24A5	solute carrier family 24, member 5	11.0	Publications
23	HPS3	Hermansky-Pudlak syndrome 3	11.0	Publications
24	GPBAR1	G protein-coupled bile acid receptor 1	11.0	Publications
25	CTSC	cathepsin C	11.0	Publications
26	GK	glycerol kinase	11.0	Publications
27	RAB38	RAB38, member RAS oncogene family	11.0
28	RECK	reversion-inducing-cysteine-rich protein with kazal motifs	11.0	Publications
29	STS	steroid sulfatase (microsomal), isozyme S	11.0	Publications
30	DCT	dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)	11.0	Publications
31	CANX	calnexin	11.0
32	AP3B1	adaptor-related protein complex 3, beta 1 subunit	11.0	Publications
33	MLS	microphthalamia with linear skin defects	11.0	Publications
34	XGPY2	Xg pseudogene, Y-linked 2	11.0
35	OED	Oregon eye disease	11.0	Publications
36	VCX3A	variable charge, X-linked 3A	11.0
37	HPS6	Hermansky-Pudlak syndrome 6	11.0	Publications
38	HCCS	holocytochrome c synthase	11.0	Publications
39	MESDC2	mesoderm development candidate 2	11.0
40	HPS5	Hermansky-Pudlak syndrome 5	11.0
41	FRMD7	FERM domain containing 7	11.0	Publications
42	ARSE	arylsulfatase E (chondrodysplasia punctata 1)	11.0
43	EIF5	eukaryotic translation initiation factor 5	11.0
44	PYROXD2	pyridine nucleotide-disulphide oxidoreductase domain 2	11.0
45	GPRC6A	G protein-coupled receptor, family C, group 6, member A	11.0	Publications
46	PMEL	premelanosome protein	11.0	Publications
47	MLANA	melan-A	11.0	Publications
48	LAMP3	lysosomal-associated membrane protein 3	11.0	Publications
49	C6	complement component 6	11.0	Publications
50	LPAR3	lysophosphatidic acid receptor 3	11.0	Publications

Pathways related to albinism according to GeneDecks:

(show all 14)

id	Pathway	Score	Top Affiliating Genes
1	Melanogenesis20	10.8	DCT, TYRP1, TYR, EDNRB, GNAI1, MC1R
2	Glutathione metabolism41	10.2	GSR, GSTA1
3	Sympathetic Nerve Pathway (Neuroeffector Junction)34	10.1	SLC18A2, SLC18A3, NPY, ACHE, CHAT
4	Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics34	9.9	GSTA1, GSTM1, CBS, HPRT1, TYMS
5	Phase II conjugation38	9.9	GSTP1, GSTM1, GSTA1, NAT2, NAT1
6	Glutamic acid signaling10	9.9	GRIA1, GRIN2B, GRM1, GRM5, GNAI1
7	Platinum Pathway, Pharmacokinetics/Pharmacodynamics34	9.8	NQO1, GSTT1, GSTP1, GSTM1
8	Busulfan Pathway, Pharmacodynamics34	9.8	APEX1, GSTP1, GSTM1, GSTA1, NAT2, NAT1
9	Naphthalene metabolism41	9.8	GSTM1, GSTP1, GSTT1, EPHX1, EPHX2, GSTA1
10	Naphthalene metabolism10	9.8	EPHX2, GSTA1, GSTM1, GSTP1, GSTT1, EPHX1
11	Glutathione metabolism10	9.6	GSTT1, GSTP1, GSTM1, GSTA1, GSR
12	Neuroactive ligand-receptor interaction20	9.5	LPAR3, GABRA5, GABBR1, ADORA2A, TSPO, HCRTR2
13	Neuroscience3	9.4	GABBR1, GFAP, SNCA, DTNBP1, CALB1, HTT
14	DNA Damage3	9.3	DPYD, TYMS, APEX1, XRCC1, BLM, NBN

Compounds related to albinism according to GeneDecks:

(show top 50)    (show all 194)

id	Compound	Score	Top Affiliating Genes
1	dopachrome32	10.9	MITF, MC1R, TYR, TYRP1, DCT, PMEL
2	levodopa32 9 9	12.7	MC1R, HPS1, SNCA, TYRP1, TYR, DCT
3	silver32	10.5	RAB27A, TYRP1, PLP1, PMEL, CALB1, MC1R
4	chloride32	10.2	RECK, CHAT, LPAR3, BLVRB, CLCN4, CTSC
5	styrene oxide32	10.1	HPRT1, EPHX2, EPHX1
6	quinolinic acid32 18	11.0	CALB1, HTT, BLVRB, PVALB, GFAP, CHAT
7	opiate32	9.9	TSPO, GUSB, GNAI1, GPRC6A, ADORA2A, SLC6A4
8	1,3-butadiene32	9.8	EPHX1, HPRT1, EPHX2, GSTT1, GSTP1, GSTM1
9	benzene32	9.8	EPHX1, NQO1, APEX1, GSTT1, GSTM1, XRCC3
10	diepoxybutane32	9.8	XRCC1, NAT2, GSTT1, HPRT1, EPHX1, GSTM1
11	styrene32	9.7	EPHX2, EPHX1, GSTT1, GSTP1, NAT2, GSTM1
12	1-hydroxypyrene32	9.7	GSTM1, GUSB, NAT2, GSTT1, EPHX1, GSTP1
13	glucose32	9.7	HCRTR1, SLC18A2, PNKD, GCG, KIT, GABBR1
14	bcnu32	9.6	TYR, NQO1, ERCC2, IFNA1, GSTP1, GFAP
15	haloperidol32 34 9 9	12.6	SLC6A4, NPY, SLC18A2, PVALB, HCRT, ADORA2A
16	hydrocarbons32	9.5	GSTM1, EPHX2, NQO1, ERCC2, EPHX1, GSTP1
17	histamine32 18	10.5	GABBR1, ADORA2A, GUSB, NPY, PVALB, TSPO
18	epoxide32	9.5	HPRT1, NAT1, NQO1, STS, EPHX1, GSTT1
19	ethylene oxide32	9.5	GSTM1, GSTT1, HPRT1, EPHX1, EPHX2
20	benzo(a)pyrene32	9.4	XPC, EPHX2, NAT2, XRCC1, GSTP1, GSTM1
21	gsts32	9.4	GSTM1, GSTA1, GSR, NAT1, KIT, NAT2
22	kainate32	9.4	GRIN2B, PVALB, TSPO, GFAP, CALB1, HTT
23	oligonucleotide32	9.3	KIT, HTT, CBS, CALB1, CALR, PLP1
24	amphetamine32 9 9	11.3	GRM5, F2, GABBR1, GCG, SNCA, HCRT
25	5-hydroxytryptamine32	9.2	EDNRB, HCRT, GFAP, TYR, TSPO, NPY
26	aspartate32	9.1	GRM5, F2, APOBEC3G, APEX1, CTSC, EPHX2
27	glutamine32	9.1	XRCC1, PAX3, GCG, KIT, HPRT1, AR
28	gaba32 42	10.1	CALB1, SST, PLP1, HCRT, GFAP, TSPO
29	cocaine32 9 9	11.1	GCG, SLC18A2, SLC6A4, ADORA2A, GABBR1, GRM5
30	quercetin32 42 9 18 9	12.8	GUSB, GSTP1, GSTA1, GSR, AR, NQO1
31	acetylcholine32 9 18 9	11.8	NOS2, EDNRB, ACHE, HCRT, PLP1, SNCA
32	adenylate32	8.6	CALR, GNAI1, GPRC6A, GPBAR1, MC1R, APEX1
33	norepinephrine32 9 18 9	11.6	GPRC6A, GCG, CHAT, SLC18A2, SLC6A4, NPY
34	creatinine32	8.5	HPRT1, HTT, TYMS, GK, NQO1, NPY
35	nmda32 42	9.5	BLVRB, SCARB1, CHAT, GSR, GRIA1, GRIN2B
36	folate32	8.3	XRCC1, GSTT1, GSTP1, GSTM1, GSR, XRCC3
37	alanine32	8.3	NPY, HTT, ALB, NQO1, EDNRB, HCRTR1
38	methotrexate32 34 42 9 9	12.2	KIT, CBS, GSTP1, IL17A, NAT2, GSR
39	cysteine32	8.0	TYMS, NAT1, GABBR1, EPHX2, SLC18A2, SLC18A3
40	oxygen32 18	8.8	SNCA, TYR, NQO1, GSTM1, NOS2, GFAP
41	glutamate32	7.8	SLC18A3, PVALB, TYR, TYMS, GFAP, HCRT
42	tyrosine32	7.7	APEX1, GPBAR1, GPRC6A, IFNA1, SNCA, SNCG
43	calcium32 9 18 9	10.5	GNAI1, BLVRB, GPD1, KIT, RECK, GPRC6A
44	dopamine32 9 18 9	10.3	CHAT, ASIC5, GUSB, ARSH, GSTP1, GRIA1
45	estrogen32	7.1	GCG, EPHX1, NAT2, KIT, RECK, EPHX2
46	testosterone32 9 18 9	10.1	NPY, EPHX2, GPD1, HTT, ALB, CALB1
47	arginine32	7.1	EIF5, GFAP, TYMS, TYR, TTPA, TSPO
48	lactate32	7.1	NPY, GSTM1, GUSB, MLANA, CD63, CHAT
49	nitric oxide32 9 18 9	9.7	GNAI1, IFNG, CALB1, CALR, NOS2, EDNRB
50	serine32	6.6	LPAR3, GPBAR1, GPRC6A, IFNA1, F3, HTT

Cellular components related to albinism according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	melanosome membrane	GO:033162	10.9	GPR143, SLC45A2, OCA2, DCT, TYRP1, TYR
2	melanosome	GO:042470	10.8	SLC24A5, PMEL, DCT, TYRP1, TYR, HPS4
3	neuronal cell body	GO:043025	9.9	GABBR1, ADORA2A, SLC18A2, SHROOM2, SNCG, SST
4	axon	GO:030424	9.2	PVALB, SNCA, DTNBP1, CALB1, HTT, GRM1
5	integral to plasma membrane	GO:005887	8.4	EDNRB, HCRTR1, HCRTR2, SLC18A3, SLC6A4, SLC18A2
6	cytosol	GO:005829	6.3	NOS2, NQO1, SNCA, DTNBP1, GK, HPS6
7	cytoplasm	GO:005737	INF	GK, ERCC2, DTNBP1, SNCA, HPS4, HPS3

Biological processes related to albinism according to GeneDecks:

(show all 22)

id	Name	GO ID	Score	Top Affiliating Genes
1	melanin biosynthetic process	GO:042438	11.0	SLC45A2, PMEL, OCA2, TYRP1, MC1R
2	pigmentation	GO:043473	10.9	LYST, HPS5, HPS3, MC1R, BLOC1S3, KIT
3	eye pigment biosynthetic process	GO:006726	10.7	OCA2, TYR, GPR143
4	cytidine deamination	GO:009972	10.7	APOBEC3H, APOBEC3G, APOBEC3F, APOBEC3A
5	negative regulation of transposition	GO:010529	10.7	APOBEC3H, APOBEC3G, APOBEC3F, APOBEC3D, APOBEC3C, APOBEC3B
6	DNA cytosine deamination	GO:070383	10.7	APOBEC3H, APOBEC3G, APOBEC3A
7	negative regulation of viral reproduction	GO:048525	10.6	APOBEC3H, APOBEC3G, APOBEC3F
8	DNA demethylation	GO:080111	10.6	APOBEC3F, APOBEC3C, APOBEC3A, APEX1
9	developmental pigmentation	GO:048066	10.6	BLOC1S3, DCT, SLC45A2
10	melanosome organization	GO:032438	10.5	LYST, PMEL, TYRP1, SHROOM2, DTNBP1, GPR143
11	negative regulation of retroviral genome replication	GO:045869	10.5	APOBEC3H, APOBEC3G, APOBEC3F
12	melanocyte differentiation	GO:030318	10.3	KIT, OCA2, RAB27A, BLOC1S6, MITF, HPS4
13	locomotory behavior	GO:007626	10.2	ADORA2A, SLC18A2, SOBP, CALB1, HTT, GRM1
14	melanosome transport	GO:032402	10.2	GPR143, BLOC1S6, BLOC1S3, RAB27A
15	anterograde synaptic vesicle transport	GO:048490	10.1	BLOC1S3, BLOC1S6, AP3B1, DTNBP1
16	regulation of excitatory postsynaptic membrane potential	GO:060079	10.0	ADORA2A, HCRT, SNCA, GRIN2B
17	anterograde axon cargo transport	GO:008089	9.7	DTNBP1, AP3B1, BLOC1S6, BLOC1S3
18	DNA repair	GO:006281	9.4	TYMS, HERC2, ERCC2, APEX1, XPC, XRCC4
19	synaptic transmission	GO:007268	9.3	HCRT, HCRTR1, HCRTR2, NPY, SLC18A3, SLC18A2
20	response to drug	GO:042493	9.2	ADORA2A, SLC6A4, TSPO, SNCA, SST, CALR
21	blood coagulation	GO:007596	8.4	HPS4, HPS5, HPS6, DTNBP1, NOS2, ADORA2A
22	small molecule metabolic process	GO:044281	7.5	ALB, CBS, HPRT1, GK, TBL1X, SUCLG2

Molecular functions related to albinism according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytidine deaminase activity	GO:004126	10.3	APOBEC3H, APOBEC3G, APOBEC3F, APOBEC3A
2	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	GO:016814	10.1	APOBEC3B, APOBEC3C, APOBEC3D
3	glutathione transferase activity	GO:004364	9.7	GSTA1, GSTM1, GSTP1, GSTT1
4	protein homodimerization activity	GO:042803	7.8	NLGN4X, ACHE, TYR, TYRP1, DPYD, SLC6A4
5	protein binding	GO:005515	5.9	GABBR1, NQO1, SNCA, TBL1X, DTNBP1, ERCC2