Melanocyte Development and Pigmentation

No Pathway Network information available for Melanocyte Development and Pigmentation

Pathways in the Melanocyte Development and Pigmentation SuperPath

#	Name	Source	Genes
1	Melanocyte Development and Pigmentation	QIAGEN	ADCY1 ADCY2 ADCY3 ATF4 BCL2 CREB1 CREB3 CREB3L4 EP300 KIT KITLG MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 MC1R MITF PAX3 POMC PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA5 RPS6KA6 SOX10 (see all 41) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	ADCY1	Adenylate Cyclase 1	Protein Coding	1
2	ADCY2	Adenylate Cyclase 2	Protein Coding	1
3	ADCY3	Adenylate Cyclase 3	Protein Coding	1
4	ATF4	Activating Transcription Factor 4	Protein Coding	1
5	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
6	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
7	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	1
8	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	1
9	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
10	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
11	KITLG	KIT Ligand	Protein Coding	1
12	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
13	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
14	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
15	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
16	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	1
17	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
18	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
19	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
20	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
21	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
22	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
23	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
24	MC1R	Melanocortin 1 Receptor	Protein Coding	1
25	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	1
26	PAX3	Paired Box 3	Protein Coding	1
27	POMC	Proopiomelanocortin	Protein Coding	1
28	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
29	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
30	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
31	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
32	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
33	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
34	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
35	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	1
36	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	1
37	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	1
38	RPS6KA4	Ribosomal Protein S6 Kinase A4	Protein Coding	1
39	RPS6KA5	Ribosomal Protein S6 Kinase A5	Protein Coding	1
40	RPS6KA6	Ribosomal Protein S6 Kinase A6	Protein Coding	1
41	SOX10	SRY-Box Transcription Factor 10	Protein Coding	1

Disorders associated with Melanocyte Development and Pigmentation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Waardenburg syndrome	Enrichment	MITF, PAX3, SOX10	6.29
2	Waardenburg syndrome, type 1	Enrichment	MITF, PAX3, SOX10	6.05
3	Waardenburg syndrome, type 2e	Enrichment	KITLG, MITF, SOX10	6.05
4	Waardenburg syndrome, type 2a	Enrichment	MITF, SOX10	4.57
5	Testicular germ cell tumor	Enrichment	KIT, KITLG	3.88
6	Waardenburg syndrome, type 4a	Enrichment	MITF, SOX10	3.88
7	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	3.50
8	Melanoma	Enrichment	MC1R, MITF	3.40
9	Specific learning disability	Enrichment	MAPK1, RPS6KA3	3.32
10	Melanoma, cutaneous malignant 1	Enrichment	MC1R, MITF	2.93
11	Rare genetic deafness	Enrichment	MITF, PAX3, SOX10	2.76
12	Craniofacial-deafness-hand syndrome	Enrichment	PAX3	2.52
13	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.52
14	Waardenburg syndrome, type 3	Enrichment	PAX3	2.52
15	Coffin-lowry syndrome	Enrichment	RPS6KA3	2.52
16	Mastocytosis, cutaneous	Enrichment	KIT	2.52
17	Carney complex, type 1	Enrichment	PRKAR1A	2.52
18	Heterochromia iridis	Enrichment	MITF	2.52
19	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	2.52
20	Tietz albinism-deafness syndrome	Enrichment	MITF	2.52
21	Increased analgesia from kappa-opioid receptor agonist, female-specific	Enrichment	MC1R	2.52
22	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.52
23	Noonan syndrome 13	Enrichment	MAPK1	2.52
24	Skin/hair/eye pigmentation, variation in, 2	Enrichment	MC1R	2.52
25	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	2.52
26	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.52
27	Myxoma, intracardiac	Enrichment	PRKAR1A	2.52
28	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Enrichment	MITF	2.52
29	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	2.52
30	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.52
31	Melanoma, cutaneous malignant 5	Enrichment	MC1R	2.52
32	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.52
33	Chronic mast cell leukemia	Enrichment	KIT	2.52
34	Deafness, autosomal dominant 69	Enrichment	KITLG	2.52
35	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	2.52
36	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.52
37	Isolated bone marrow mastocytosis	Enrichment	KIT	2.52
38	Smoldering systemic mastocytosis	Enrichment	KIT	2.52
39	Mastocytosis	Enrichment	KIT	2.52
40	Familial progressive hyperpigmentation	Enrichment	KITLG	2.52
41	Cutaneous mastocytoma	Enrichment	KIT	2.52
42	Typical urticaria pigmentosa	Enrichment	KIT	2.52
43	Nodular urticaria pigmentosa	Enrichment	KIT	2.52
44	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	2.52
45	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	2.52
46	Acute mast cell leukemia	Enrichment	KIT	2.52
47	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	2.52
48	Plaque-form urticaria pigmentosa	Enrichment	KIT	2.52
49	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	2.52
50	Testis seminoma	Enrichment	KIT	2.52
51	Scoliosis, isolated 1	Enrichment	MAPK7	2.22
52	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	2.22
53	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.22
54	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	PRKAR1A	2.22
55	Waardenburg syndrome, type 4c	Enrichment	SOX10	2.22
56	Piebald trait	Enrichment	KIT	2.22
57	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	2.22
58	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	2.22
59	Waardenburg syndrome, type 2f	Enrichment	KITLG	2.22
60	Menke-hennekam syndrome 2	Enrichment	EP300	2.22
61	Usher syndrome, type iv	Enrichment	PRKAR1A	2.22
62	Intravascular large b-cell lymphoma	Enrichment	BCL2	2.22
63	Melanoma, cutaneous malignant 8	Enrichment	MITF	2.22
64	Acrodysostosis	Enrichment	PRKAR1A	2.22
65	Papillary renal cell carcinoma	Enrichment	MITF	2.22
66	Body mass index quantitative trait locus 19	Enrichment	ADCY3	2.22
67	Fibrolamellar carcinoma	Enrichment	PRKACA	2.22
68	Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	Enrichment	SOX10	2.22
69	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	2.22
70	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	2.22
71	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	2.22
72	Inherited cancer-predisposing syndrome	Enrichment	KIT, MITF, PRKAR1A	2.13
73	Obesity, early-onset, with adrenal insufficiency and red hair	Enrichment	POMC	2.04
74	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	2.04
75	Testicular germ cell cancer	Enrichment	KIT	2.04
76	Melanoma of soft tissue	Enrichment	CREB1	2.04
77	Obesity due to pro-opiomelanocortin deficiency	Enrichment	POMC	2.04
78	Body mass index quantitative trait locus 11	Enrichment	ADCY3, POMC	2.00
79	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	KITLG, MITF	1.97
80	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.92
81	Carney complex variant	Enrichment	PRKAR1A	1.92
82	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.92
83	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.92
84	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.92
85	Clear cell papillary renal cell carcinoma	Enrichment	MITF	1.92
86	Albinism, oculocutaneous, type ii	Enrichment	MC1R	1.82
87	Hypogonadotropic hypogonadism 1 with or without anosmia	Enrichment	SOX10	1.82
88	Rhabdomyosarcoma 2	Enrichment	PAX3	1.82
89	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.82
90	Follicular lymphoma	Enrichment	BCL2	1.82
91	Acute myeloid leukemia with maturation	Enrichment	KIT	1.82
92	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.82
93	Rubinstein-taybi syndrome 1	Enrichment	EP300	1.74
94	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	EP300	1.74
95	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.74
96	Gastrointestinal stromal tumor	Enrichment	KIT	1.68
97	Gastroesophageal reflux	Enrichment	RPS6KA3	1.62
98	Orthostatic intolerance	Enrichment	RPS6KA3	1.62
99	Lennox-gastaut syndrome	Enrichment	MAPK10	1.62
100	Charge syndrome	Enrichment	EP300	1.57
101	Ventricular septal defect	Enrichment	RPS6KA3	1.57
102	Lip and oral cavity carcinoma	Enrichment	KIT	1.45
103	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.41
104	Polydactyly, postaxial, type a1	Enrichment	EP300	1.35
105	Rare genetic intellectual disability	Enrichment	EP300	1.35
106	Heart, malformation of	Enrichment	MAPK1	1.28
107	Microcephaly	Enrichment	EP300, MAPK1	1.27
108	Kallmann syndrome	Enrichment	SOX10	1.17
109	Ear malformation	Enrichment	MITF	1.15
110	Hirschsprung disease 1	Enrichment	SOX10	1.08
111	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.99
112	Non-syndromic genetic deafness	Enrichment	MITF	0.99
113	Leukemia, acute myeloid	Enrichment	KIT	0.94
114	Nonsyndromic hearing loss	Enrichment	MITF	0.92
115	Hypertelorism	Enrichment	RPS6KA3	0.84
116	Hereditary breast ovarian cancer syndrome	Enrichment	MITF	0.81
117	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.69
118	Colorectal cancer	Enrichment	EP300	0.63
119	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	0.63
120	Ovarian cancer	Enrichment	KIT	0.58

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Melanocyte Development and Pigmentation

Pathway Network for Melanocyte Development and Pigmentation

Member Pathways for Melanocyte Development and Pigmentation

Pathways in the Melanocyte Development and Pigmentation SuperPath

Associated Genes for Melanocyte Development and Pigmentation

Associated Disorders for Melanocyte Development and Pigmentation

Disorders associated with Melanocyte Development and Pigmentation SuperPath

STRING Interaction Network for Melanocyte Development and Pigmentation

Sources for Melanocyte Development and Pigmentation