Aliases & Classifications for Pigmentation Disease

MalaCards integrated aliases for Pigmentation Disease:

Name: Pigmentation Disease 12 15 17
Pigmentation Disorders 54 71
Skin Pigmentation Disorder 71

Classifications:



External Ids:

Disease Ontology 12 DOID:10123
ICD9CM 34 709.09
ICD10 32 L81 L81.8 L81.9
UMLS 71 C0375489 C0549567 C1704421

Summaries for Pigmentation Disease

Disease Ontology : 12 A skin disease that is characterized by discoloration of the skin.

MalaCards based summary : Pigmentation Disease, also known as pigmentation disorders, is related to reticulate acropigmentation of kitamura and neonatal jaundice, and has symptoms including muscle weakness, polydipsia and pruritus. An important gene associated with Pigmentation Disease is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are PI3K-Akt signaling pathway and MAPK signaling pathway. The drugs Bleomycin and Viscosupplements have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Pigmentation Disease

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

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 reticulate acropigmentation of kitamura 32.0 POGLUT1 POFUT1 ADAR
2 neonatal jaundice 31.9 UGT1A1 OXT G6PD
3 dowling-degos disease 31.9 POGLUT1 POFUT1 ADAR
4 dowling-degos disease 1 30.5 IKBKG FGFR3
5 hypomelanosis of ito 11.7
6 pigmentation anomaly of the skin 11.7
7 vitiligo-associated multiple autoimmune disease susceptibility 1 11.2
8 dyschromatosis symmetrica hereditaria 10.9
9 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.9
10 dyschromatosis universalis hereditaria 10.9
11 hypopigmentation of eyelid 10.9
12 legius syndrome 10.9
13 immunodeficiency without anhidrotic ectodermal dysplasia 10.6 IKBKG G6PD
14 epicardium cancer 10.6 UGT1A8 UGT1A1
15 ectodermal dysplasia and immunodeficiency 1 10.6 IKBKG G6PD
16 invasive pneumococcal disease, recurrent isolated 10.5 IKBKG G6PD
17 bilirubin, serum level of, quantitative trait locus 1 10.5 UGT1A8 UGT1A6 UGT1A1
18 thiopurines, poor metabolism of, 1 10.5 UGT1A8 UGT1A6 UGT1A1
19 tylosis with esophageal cancer 10.5 MIR376A1 INS ADAR
20 crigler-najjar syndrome, type i 10.5 UGT1A8 UGT1A6 UGT1A1
21 crigler-najjar syndrome, type ii 10.5 UGT1A8 UGT1A6 UGT1A1
22 dihydropyrimidine dehydrogenase deficiency 10.5 UGT1A8 UGT1A6 UGT1A1
23 secondary adrenal insufficiency 10.5 INS IGF1
24 glucosephosphate dehydrogenase deficiency 10.5 UGT1A8 UGT1A1 G6PD
25 hypothalamic obesity 10.5 INS IGF1
26 adiposis dolorosa 10.5 BSCL2 AGPAT2
27 breast juvenile papillomatosis 10.5 OXT FGFR3
28 lipodystrophy, congenital generalized, type 4 10.5 BSCL2 AGPAT2
29 rare genetic diabetes mellitus 10.5 LMNA BSCL2
30 pituitary infarct 10.4 INS IGF1
31 cholelithiasis 10.4 UGT1A8 UGT1A6 UGT1A1 INS
32 acidophil adenoma 10.4 INS IGF1
33 gilbert syndrome 10.4 UGT1A8 UGT1A6 UGT1A1 G6PD
34 monogenic diabetes 10.4 LMNA INS BSCL2
35 lipodystrophy, familial partial, type 1 10.4 LMNA BSCL2 AGPAT2
36 marasmus 10.4 SHBG INS IGF1
37 sickle cell anemia 10.4 UGT1A8 UGT1A6 UGT1A1 G6PD
38 inherited metabolic disorder 10.4 UGT1A8 UGT1A6 UGT1A1 INS
39 acquired generalized lipodystrophy 10.4 LMNA BSCL2 AGPAT2
40 lipodystrophy, familial partial, type 3 10.4 LMNA BSCL2 AGPAT2
41 skin tag 10.4 SHBG INS IGF1
42 lipodystrophy, congenital generalized, type 2 10.4 LMNA BSCL2 AGPAT2
43 lipodystrophy, familial partial, type 5 10.4 LMNA BSCL2 AGPAT2
44 hypoactive sexual desire disorder 10.4 SHBG OXT
45 androgenic alopecia 10.4 SHBG INS IGF1
46 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.4 INSR INS IGF1
47 sebaceous gland disease 10.4 SHBG INS IGF1
48 lipodystrophy, congenital generalized, type 3 10.4 BSCL2 AGPAT2
49 potter's syndrome 10.4 INS IGF1
50 persistent fetal circulation syndrome 10.4 OXT INS IGF1

Graphical network of the top 20 diseases related to Pigmentation Disease:



Diseases related to Pigmentation Disease

Symptoms & Phenotypes for Pigmentation Disease

UMLS symptoms related to Pigmentation Disease:


muscle weakness, polydipsia, pruritus, exanthema

GenomeRNAi Phenotypes related to Pigmentation Disease according to GeneCards Suite gene sharing:

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 AGPAT2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.85 IGF1 UGT1A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.85 LMNA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.85 IKBKG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.85 LMNA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.85 IGF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.85 IGF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.85 LMNA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.85 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.85 IGF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.85 IGF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.85 IKBKG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.85 IGF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.85 UGT1A1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.85 IGF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.85 IGF1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.85 IKBKG
18 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.85 IKBKG
19 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.85 IGF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.85 UGT1A1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.85 AGPAT2 IKBKG LMNA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.85 AGPAT2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.85 AGPAT2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.85 AGPAT2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.85 IKBKG UGT1A1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.85 UGT1A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.85 AGPAT2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.85 AGPAT2 LMNA
29 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.85 IGF1

MGI Mouse Phenotypes related to Pigmentation Disease:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ADAR BSCL2 G6PD IGF1 IKBKG INS
2 growth/size/body region MP:0005378 10.22 ADAR AGPAT2 BSCL2 FGFR3 G6PD IGF1
3 endocrine/exocrine gland MP:0005379 10.13 AGPAT2 BSCL2 IGF1 IKBKG INS INSR
4 adipose tissue MP:0005375 10.1 AGPAT2 BSCL2 IGF1 IKBKG INS INSR
5 mortality/aging MP:0010768 10.1 ADAR AGPAT2 BSCL2 FGFR3 G6PD IGF1
6 integument MP:0010771 10.07 ADAR AGPAT2 BSCL2 FGFR3 IGF1 IKBKG
7 digestive/alimentary MP:0005381 10.06 AGPAT2 BSCL2 FGFR3 IKBKG INS INSR
8 liver/biliary system MP:0005370 9.92 ADAR AGPAT2 BSCL2 IKBKG INS INSR
9 nervous system MP:0003631 9.9 ADAR BSCL2 FGFR3 G6PD IGF1 INS
10 renal/urinary system MP:0005367 9.56 AGPAT2 BSCL2 FGFR3 IGF1 INS INSR
11 reproductive system MP:0005389 9.28 BSCL2 FGFR3 IGF1 IKBKG INS INSR

Drugs & Therapeutics for Pigmentation Disease

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bleomycin Approved, Investigational Phase 4 11056-06-7 5360373
2 Viscosupplements Phase 4
3 Hylan Phase 4
4 Pharmaceutical Solutions Phase 4
5 Anti-Bacterial Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7
Aldesleukin Approved Phase 3 85898-30-2, 110942-02-4
8
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
9 Antiviral Agents Phase 3
10 Interleukin-2 Phase 3
11 Anti-HIV Agents Phase 3
12 Anti-Infective Agents Phase 3
13 Anti-Retroviral Agents Phase 3
14 Immunosuppressive Agents Phase 2, Phase 3
15 Immunologic Factors Phase 2, Phase 3
16 Calcineurin Inhibitors Phase 2, Phase 3
17
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
18
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
19
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538
20 Triamcinolone diacetate Phase 2
21 triamcinolone acetonide Phase 2
22 Triamcinolone hexacetonide Phase 2
23
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
24
Glycolic acid Approved, Investigational 79-14-1 757
25 Chlorhexidine gluconate
26 Protective Agents
27 Carotenoids
28 Antioxidants

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Post-Market Study to Evaluate Adverse Event Incidence Rates in Patients With Skin of Color Undergoing Correction of Nasolabial Folds With Hylaform, Hylaform Plus and Captique. Completed NCT00293163 Phase 4
2 Bleomycin Infusion (MMP®) to Repigment Achromic Scars Not yet recruiting NCT04046679 Phase 4 Bleomycin
3 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
4 Pre-Treatment of Highly Suspicious Pigmented Skin Lesions With Interleukin-2 Recruiting NCT03233828 Phase 3
5 Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control, Randomized and Double Blind Study Terminated NCT01841008 Phase 2, Phase 3 Protopic;Placebo : Diprobase
6 Non-ablative 1,550 nm Fractional Laser Therapy Versus Triple Topical Therapy for the Treatment of Melasma: a Randomized Controlled Split-face Study Completed NCT01085279 Phase 2 Modified Kligman's formula (Triple topical therapy)
7 Ablative Fractional Laser Therapy as Treatment for Becker's Nevus; a Pilot Study Completed NCT01083498 Phase 2
8 Pilot Study to Determine the Feasibility and Functionality of fPAM Imaging for the in Vivo Depth Measurement of Pigmented Lesions and Melanoma Depth Completed NCT02613325 Phase 1
9 A Single-Center Open-Label Study of 1064 nm Nd:YAG for Nonablative Skin Rejuvenation Unknown status NCT03421691
10 A Proof of Concept Cases Series on the Use of the Epidermal Expansion System to Harvest and Place Suction Blister Epidermal Grafts on Hypopigmented Skin and Surgical Wounds Unknown status NCT01590329
11 Dermoscopy Evaluation of Pigmented Skin Lesions by a Neuronal Network Clinical Decision Support: an Open Prospective Non Interventional Study Unknown status NCT03362138
12 A Single-Center Prospective, Open-Label Study of the Excel V 532 nm KTP Laser for the Treatment of Poikiloderma of Civatte Completed NCT01491620
13 A Clinical Evaluation of a Novel Multi-Wavelength Laser for Benign Pigmented Lesion Removal Completed NCT02635880
14 A Pilot Study to Evaluate the Correlation Between Modified Two Layer Diffuse Optical Spectroscopy With the Clinical and Histological Examinations of Pigmented Skin Lesions Based on Physiological Parameters Completed NCT00633516
15 MelaFind Evaluations for Patients With Multiple Nevi Completed NCT01700101
16 Effectiveness, Safety, and Cost Efficacy of Water (H2O) as a Substitute for Sodium Bicarbonate (NaHCO3) Plus Solution in Neutralization of Chemical Peeling Using 35% Glycolic Acid Solution Completed NCT04154436
17 Evaluation of a New Dermal Cryotherapy System for the Treatment of Benign Pigmented Lesions Recruiting NCT02848742
18 A Prospective, Double-blind, Split-body, Randomized Controlled Trial to Assess the Efficacy of Low Level Laser Therapy for Pigmentary Disorders Recruiting NCT04308421
19 Macular Pigment Measurements in Eye & Other Tissues Recruiting NCT03022773
20 Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto) Not yet recruiting NCT04377828
21 Non-invasive Imaging Modalities for Assessment of Normal and Lesional Skin Withdrawn NCT00764920

Search NIH Clinical Center for Pigmentation Disease

Genetic Tests for Pigmentation Disease

Anatomical Context for Pigmentation Disease

MalaCards organs/tissues related to Pigmentation Disease:

40
Skin, Eye, Bone, Pituitary, Heart, Colon, Thyroid

Publications for Pigmentation Disease

Articles related to Pigmentation Disease:

(show top 50) (show all 237)
# Title Authors PMID Year
1
Synthesis of calix[4]azacrown substituted sulphonamides with antioxidant, acetylcholinesterase, butyrylcholinesterase, tyrosinase and carbonic anhydrase inhibitory action. 61
32401067 2020
2
Sulphonamides incorporating 1,3,5-triazine structural motifs show antioxidant, acetylcholinesterase, butyrylcholinesterase, and tyrosinase inhibitory profile. 61
31899985 2020
3
​ A series of benzylidene linked to hydrazinecarbothioamide as tyrosinase inhibitors Synthesis, biological evaluation and structure-activity relationship. 61
32478439 2020
4
Plasma sublimation for the treatment of xanthelasma palpebrarum. 61
32566950 2020
5
Regulation of Wnt Signaling through Ubiquitination and Deubiquitination in Cancers. 61
32486158 2020
6
Expression and distribution of bone morphogenetic protein 4 and its antagonist Noggin in the skin of Kazakh sheep (Ovis aries) with a white and brown coat color. 61
32331775 2020
7
Cistanche deserticola polysaccharide induces melanogenesis in melanocytes and reduces oxidative stress via activating NRF2/HO-1 pathway. 61
32096914 2020
8
Knowledge about and attitude toward cosmeceuticals among pharmacists in Saudi Arabia. 61
32162468 2020
9
Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin. 61
31330146 2020
10
Topical treatment strategies to manipulate human skin pigmentation. 61
32092380 2020
11
Nicastrin Deficiency Induces Tyrosinase-Dependent Depigmentation and Skin Inflammation. 61
31437444 2020
12
Identification of kit-ligand a as the Gene Responsible for the Medaka Pigment Cell Mutant few melanophore. 61
31757930 2020
13
Nanoliposomes encapsulation of enriched phenolic fraction from pistachio hulls and its antioxidant, anti-inflammatory, and anti-melanogenic activities. 61
31714165 2020
14
The Split-Face Comparison of the Combined Er-YAG Laser and Hydroquinone 4% With Hydroquinone 4% Alone in the Treatment of Melasma in Iranian Patients: A Prospective, Interventional Case Study. 61
32099630 2020
15
JNK suppresses melanogenesis by interfering with CREB-regulated transcription coactivator 3-dependent MITF expression. 61
32226536 2020
16
Review of the pathology underlying benign paroxysmal positional vertigo. 61
31885315 2019
17
Arbutin protects HK-2 cells against high glucose-induced apoptosis and autophagy by up-regulating microRNA-27a. 61
31319730 2019
18
Melanoma mutations modify melanocyte dynamics in co-culture with keratinocytes or fibroblasts. 61
31767623 2019
19
Low-fluenced erbium:yttrium-aluminium-garnet laser treatment in combination with broadband light pretreatment for various pigmentation disorders in Asian patients. 61
30825265 2019
20
Risk Factors Associated with Premature Hair Greying of Young Adult. 61
32127970 2019
21
Human Skin Lightening Efficacy of Resveratrol and Its Analogs: From in Vitro Studies to Cosmetic Applications. 61
31443469 2019
22
Dermatological diseases in the geriatric age group: Retrospective analysis of 7092 patients. 61
30950155 2019
23
In Vitro and In Vivo Efficacy and Tolerability of a Non-Hydroquinone, Multi-Action Skin Tone Correcting Cream 61
31329402 2019
24
Tyrosinase inhibition and anti-melanin generation effect of cinnamamide analogues. 61
30856375 2019
25
The histopathological pattern of benign and non-neoplastic skin diseases at King Fahad Hospital, Madinah, Saudi Arabia. 61
31219488 2019
26
KIT as a therapeutic target for non-oncological diseases. 61
30557630 2019
27
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease. 61
31092635 2019
28
[Genetics and dermatology]. 61
31006539 2019
29
Pigmentation Disorders in the Elderly. 61
30637685 2019
30
Cannabinoid Signaling in the Skin: Therapeutic Potential of the "C(ut)annabinoid" System. 61
30845666 2019
31
Association of skin hyperpigmentation disorders with digital ulcers in systemic sclerosis: Analysis of a cohort of 239 patients. 61
30092330 2019
32
First record of pigmentation disorder in the Fringe-lipped Bat Trachops cirrhosus (Spix, 1823) (Chiroptera: Phyllostomidae) from southeast Brazil. 61
31534412 2019
33
Melanonychia Striata: Nail Alterations during Pregnancy. 61
31904335 2019
34
Amine derivatives of furocoumarin induce melanogenesis by activating Akt/GSK-3β/β-catenin signal pathway. 61
30858693 2019
35
Mushroom Tyrosinase-Based Enzyme Inhibition Assays Are Not Suitable for Bioactivity-Guided Fractionation of Extracts. 61
30629444 2019
36
Synthesis of cinnamic amide derivatives and their anti-melanogenic effect in α-MSH-stimulated B16F10 melanoma cells. 61
30347330 2019
37
Design, synthesis and anti-melanogenic effect of cinnamamide derivatives. 61
30366788 2018
38
A severe chronic outdoor urban pollution alters some facial aging signs in Chinese women. A tale of two cities. 61
30112861 2018
39
Evaluating age-related changes of some facial signs among men of four different ethnic groups. 61
30192376 2018
40
Vitamin B12 Deficiency Induces Imbalance in Melanocytes Homeostasis-A Cellular Basis of Hypocobalaminemia Pigmentary Manifestations. 61
30235895 2018
41
Classification of non-tumorous skin pigmentation disorders using voting based probabilistic linear discriminant analysis. 61
29909227 2018
42
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. 61
29904107 2018
43
Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria. 61
29915444 2018
44
TRP‑2 mediates coat color pigmentation in sheep skin. 61
29436631 2018
45
Brassica rapa hairy root extracts promote skin depigmentation by modulating melanin production and distribution. 61
28670794 2018
46
Defining the actinic keratosis field: a literature review and discussion. 61
29055153 2018
47
Evaluation of supportive and barrier-protective skin care products in the daily prevention and treatment of cutaneous toxicity during systemic chemotherapy. 61
30271169 2018
48
Restoration of skin pigmentation after deep partial or full-thickness burn injury. 61
29079536 2018
49
Approach for the Derivation of Melanocytes from Induced Pluripotent Stem Cells. 61
28887108 2018
50
Seasonally-induced alterations of some facial signs in Caucasian women and their changes induced by a daily application of a photo-protective product. 61
28887842 2017

Variations for Pigmentation Disease

Expression for Pigmentation Disease

Search GEO for disease gene expression data for Pigmentation Disease.

Pathways for Pigmentation Disease

Pathways related to Pigmentation Disease according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 PKM INSR INS IKBKG IGF1 FGFR3
2 12.56 INSR INS IKBKG IGF1 FGFR3
3
Show member pathways
12.48 INSR INS IKBKG IGF1 FGFR3
4
Show member pathways
12.32 INSR INS IGF1 FGFR3
5 11.78 INSR INS IGF1
6 11.77 UGT1A8 UGT1A6 UGT1A1 PKM INSR INS
7
Show member pathways
11.69 PKM INSR INS
8 11.65 UGT1A8 UGT1A6 UGT1A1
9
Show member pathways
11.58 UGT1A8 UGT1A6 UGT1A1
10 11.5 PKM G6PD FGFR3
11 11.47 LMNA INS IGF1 BSCL2 AGPAT2
12
Show member pathways
11.46 UGT1A8 UGT1A6 UGT1A1
13
Show member pathways
11.35 UGT1A8 UGT1A6 UGT1A1
14 11.21 INSR INS IGF1
15 11 INSR INS IGF1
16
Show member pathways
10.86 UGT1A8 UGT1A6 UGT1A1
17 10.76 INS G6PD

GO Terms for Pigmentation Disease

Cellular components related to Pigmentation Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.23 UGT1A8 UGT1A6 UGT1A1 POGLUT1 POFUT1 FGFR3

Biological processes related to Pigmentation Disease according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.84 POFUT1 INSR INS G6PD
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 INSR INS IGF1
3 positive regulation of MAPK cascade GO:0043410 9.71 INSR INS IGF1 FGFR3
4 glucose metabolic process GO:0006006 9.7 PKM INS G6PD
5 positive regulation of glucose import GO:0046326 9.63 INSR INS IGF1
6 activation of protein kinase B activity GO:0032148 9.61 INSR INS IGF1
7 negative regulation of lipid catabolic process GO:0050995 9.58 INS BSCL2
8 cellular glucuronidation GO:0052695 9.57 UGT1A6 UGT1A1
9 neuron projection maintenance GO:1990535 9.55 INSR INS
10 positive regulation of mitotic nuclear division GO:0045840 9.54 INSR INS IGF1
11 positive regulation of respiratory burst GO:0060267 9.51 INSR INS
12 flavone metabolic process GO:0051552 9.49 UGT1A8 UGT1A1
13 negative regulation of fatty acid metabolic process GO:0045922 9.48 UGT1A8 INS
14 positive regulation of glycolytic process GO:0045821 9.43 INSR INS IGF1
15 positive regulation of glycogen biosynthetic process GO:0045725 9.33 INSR INS IGF1
16 negative regulation of steroid metabolic process GO:0045939 9.32 UGT1A8 UGT1A1
17 xenobiotic glucuronidation GO:0052697 9.13 UGT1A8 UGT1A6 UGT1A1
18 flavonoid glucuronidation GO:0052696 8.8 UGT1A8 UGT1A6 UGT1A1

Molecular functions related to Pigmentation Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.02 UGT1A8 UGT1A6 UGT1A1 POGLUT1 POFUT1 PKM
2 transferase activity, transferring hexosyl groups GO:0016758 9.58 UGT1A8 UGT1A6 UGT1A1
3 steroid binding GO:0005496 9.5 UGT1A8 UGT1A1 SHBG
4 glucuronosyltransferase activity GO:0015020 9.43 UGT1A8 UGT1A6 UGT1A1
5 transferase activity, transferring glycosyl groups GO:0016757 9.35 UGT1A8 UGT1A6 UGT1A1 POGLUT1 POFUT1
6 retinoic acid binding GO:0001972 9.33 UGT1A8 UGT1A6 UGT1A1
7 insulin-like growth factor receptor binding GO:0005159 8.8 INSR INS IGF1

Sources for Pigmentation Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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