MITF-M-dependent gene expression

Pathway network for the MITF-M-dependent gene expression SuperPath

Sources:

Reactome
WikiPathways

Pathways in the MITF-M-dependent gene expression SuperPath

#	Name	Source	Genes
1	MITF-M-dependent gene expression	Reactome	ACTB ACTL6A AGO1 AGO2 AGO3 AGO4 AKT2 ARID1A ARID1B ASAH1 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0E1 ATP6V1A ATP6V1B2 ATP6V1C1 ATP6V1E1 ATP6V1G1 ATP6V1H BCL2 BCL2A1 BCL7A BCL7B BCL7C BIRC7 BRCA1 CCNB1 CCND1 CDC25B CDH2 CDK2 CDKN1A CDKN2A CEACAM1 CREB1 CTNNB1 DCT DIAPH1 DICER1 DPF1 DPF2 DPF3 EDIL3 GMPR GPR143 GXYLT2 HDAC1 HINT1 IRF4 ITGA2 LEF1 LIG1 MAPK14 MCM2 MCM5 MET MITF MLANA MLPH MOV10 MYO5A MYRIP PLK1 PMEL POU3F2 PPARGC1A PXDN PXN RAB27A SERPINE1 SIN3A SIRT1 SMARCA2 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCD1 SMARCD2 SMARCD3 SMARCE1 SOX10 SOX2 SS18 SS18L1 STT3B SYTL2 TBX2 TCF7 TCF7L1 TCF7L2 TERT TFAP2A TNRC6A TNRC6B TNRC6C TRPM1 TYR TYRP1 USF1 ZEB1 (see all 102) (see less)
2	MITF-M-regulated melanocyte development	Reactome	ACTB ACTL6A AGO1 AGO2 AGO3 AGO4 AIMP1 AIMP2 AKT2 AKT3 ALX3 ARID1A ARID1B ASAH1 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0E1 ATP6V1A ATP6V1B2 ATP6V1C1 ATP6V1E1 ATP6V1G1 ATP6V1H BCL2 BCL2A1 BCL7A BCL7B BCL7C BIRC7 BRCA1 CCNB1 CCND1 CDC25B CDH2 CDK2 CDKN1A CDKN2A CEACAM1 CREB1 CREBBP CSF1 CTNNB1 DARS1 DCT DIAPH1 DICER1 DPF1 DPF2 DPF3 EDIL3 EDN1 EDN3 EDNRB EEF1E1 EP300 EPRS1 FOXD3 GMPR GPR143 GSK3B GXYLT2 HDAC1 HINT1 IARS1 ID1 IRF4 ITGA2 KARS1 KIT KITLG LARS1 LEF1 LIG1 MAPK1 MAPK14 MAPK3 MARK3 MARS1 MC1R MC3R MC4R MC5R MCM2 MCM5 MET MITF MLANA MLPH MOV10 MYO5A MYRIP PAX3 PLK1 PMEL POMC POU3F2 PPARGC1A PXDN PXN QARS1 RAB27A RARS1 RPS6KA1 SERPINE1 SIN3A SIRT1 SMARCA2 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCD1 SMARCD2 SMARCD3 SMARCE1 SNAI2 SOX10 SOX2 SOX9 SS18 SS18L1 STT3B SUMO1 SYTL2 TBX2 TBX3 TCF7 TCF7L1 TCF7L2 TERT TFAP2A TFE3 TFEB TFEC TNFSF11 TNRC6A TNRC6B TNRC6C TRPM1 TYR TYRP1 UBE2I USF1 WNT3A XPO1 YWHAB YWHAE YWHAG YWHAH YWHAZ ZEB1 ZIC1 (see all 153) (see less)
3	Transcriptional and post-translational regulation of MITF-M expression and activity	Reactome	AIMP1 AIMP2 AKT3 ALX3 CREB1 CREBBP CSF1 CTNNB1 DARS1 EDN1 EDN3 EDNRB EEF1E1 EP300 EPRS1 FOXD3 GSK3B HDAC1 HINT1 IARS1 ID1 KARS1 KIT KITLG LARS1 LEF1 MAPK1 MAPK3 MARK3 MARS1 MC1R MC3R MC4R MC5R MITF PAX3 POMC POU3F2 QARS1 RARS1 RPS6KA1 SIRT1 SNAI2 SOX10 SOX2 SOX9 SUMO1 TBX3 TFE3 TFEB TFEC TNFSF11 UBE2I WNT3A XPO1 YWHAB YWHAE YWHAG YWHAH YWHAZ ZIC1 (see all 61) (see less)
4	Regulation of MITF-M-dependent genes involved in cell cycle and proliferation	Reactome	CCNB1 CCND1 CDC25B CDK2 CDKN1A CDKN2A CTNNB1 HDAC1 HINT1 LEF1 MET MITF PLK1 SIN3A TBX2 TCF7 TCF7L1 TCF7L2 (see all 18) (see less)
5	Regulation of MITF-M-dependent genes involved in apoptosis	Reactome	AGO1 AGO2 AGO3 AGO4 BCL2 BCL2A1 BIRC7 DICER1 HDAC1 HINT1 MITF MOV10 POU3F2 SIN3A TNRC6A TNRC6B TNRC6C TRPM1 (see all 18) (see less)
6	Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy	Reactome	ASAH1 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0E1 ATP6V1A ATP6V1B2 ATP6V1C1 ATP6V1E1 ATP6V1G1 ATP6V1H MITF (see all 12) (see less)
7	Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition	Reactome	CDH2 EDIL3 GXYLT2 ITGA2 MITF PXDN PXN SERPINE1 SOX2 STT3B ZEB1 (see all 11) (see less)
8	Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence	Reactome	BRCA1 LIG1 MCM2 MCM5 MITF TERT (see all 6) (see less)
9	Regulation of MITF-M dependent genes involved in invasion	Reactome	CEACAM1 DIAPH1 GMPR MITF
10	Regulation of MITF-M dependent genes involved in metabolism	Reactome	MITF PPARGC1A SIRT1
11	Hypoxia-mediated EMT and stemness	WikiPathways	DICER1 ZEB1

Gene overlap in member pathways for MITF-M-dependent gene expression SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	10
2	HDAC1	Histone Deacetylase 1	Protein Coding	5
3	HINT1	Histidine Triad Nucleotide Binding Protein 1	Protein Coding	5
4	CTNNB1	Catenin Beta 1	Protein Coding	4
5	DICER1	Dicer 1, Ribonuclease III	Protein Coding	4
6	SIRT1	Sirtuin 1	Protein Coding	4
7	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	4
8	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	4
9	POU3F2	POU Class 3 Homeobox 2	Protein Coding	4
10	SOX2	SRY-Box Transcription Factor 2	Protein Coding	4
11	ZEB1	Zinc Finger E-Box Binding Homeobox 1	Protein Coding	4
12	CDH2	Cadherin 2	Protein Coding	3
13	EDIL3	EGF Like And Discoidin Domains 3	Protein Coding	3
14	CDK2	Cyclin Dependent Kinase 2	Protein Coding	3
15	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	3
16	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	3
17	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	3
18	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	3
19	DIAPH1	Diaphanous Related Formin 1	Protein Coding	3
20	AGO3	Argonaute RISC Catalytic Component 3	Protein Coding	3
21	AGO4	Argonaute RISC Component 4	Protein Coding	3
22	STT3B	STT3 Oligosaccharyltransferase Complex Catalytic Subunit B	Protein Coding	3
23	TNRC6B	Trinucleotide Repeat Containing Adaptor 6B	Protein Coding	3
24	AGO1	Argonaute RISC Component 1	Protein Coding	3
25	AGO2	Argonaute RISC Catalytic Component 2	Protein Coding	3
26	TNRC6A	Trinucleotide Repeat Containing Adaptor 6A	Protein Coding	3
27	GMPR	Guanosine Monophosphate Reductase	Protein Coding	3
28	ITGA2	Integrin Subunit Alpha 2	Protein Coding	3
29	LIG1	DNA Ligase 1	Protein Coding	3
30	MCM2	Minichromosome Maintenance Complex Component 2	Protein Coding	3
31	MCM5	Minichromosome Maintenance Complex Component 5	Protein Coding	3
32	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	3
33	ASAH1	N-Acylsphingosine Amidohydrolase 1	Protein Coding	3
34	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	3
35	MOV10	Mov10 RNA Helicase	Protein Coding	3
36	SERPINE1	Serpin Family E Member 1	Protein Coding	3
37	ATP6V1H	ATPase H+ Transporting V1 Subunit H	Protein Coding	3
38	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	3
39	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	3
40	ATP6V0C	ATPase H+ Transporting V0 Subunit C	Protein Coding	3
41	ATP6V1C1	ATPase H+ Transporting V1 Subunit C1	Protein Coding	3
42	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	3
43	ATP6V0B	ATPase H+ Transporting V0 Subunit B	Protein Coding	3
44	PLK1	Polo Like Kinase 1	Protein Coding	3
45	TNRC6C	Trinucleotide Repeat Containing Adaptor 6C	Protein Coding	3
46	PXN	Paxillin	Protein Coding	3
47	CCND1	Cyclin D1	Protein Coding	3
48	BCL2	BCL2 Apoptosis Regulator	Protein Coding	3
49	BCL2A1	BCL2 Related Protein A1	Protein Coding	3
50	CEACAM1	CEA Cell Adhesion Molecule 1	Protein Coding	3
51	SOX10	SRY-Box Transcription Factor 10	Protein Coding	3
52	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	3
53	TBX2	T-Box Transcription Factor 2	Protein Coding	3
54	TCF7	Transcription Factor 7	Protein Coding	3
55	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	3
56	TERT	Telomerase Reverse Transcriptase	Protein Coding	3
57	GXYLT2	Glucoside Xylosyltransferase 2	Protein Coding	3
58	PXDN	Peroxidasin	Protein Coding	3
59	BIRC7	Baculoviral IAP Repeat Containing 7	Protein Coding	3
60	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	3
61	CCNB1	Cyclin B1	Protein Coding	3
62	ATP6V0E1	ATPase H+ Transporting V0 Subunit E1	Protein Coding	3
63	ATP6V0D1	ATPase H+ Transporting V0 Subunit D1	Protein Coding	3
64	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	3
65	CDC25B	Cell Division Cycle 25B	Protein Coding	3
66	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
67	DCT	Dopachrome Tautomerase	Protein Coding	2
68	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
69	MLANA	Melan-A	Protein Coding	2
70	MYRIP	Myosin VIIA And Rab Interacting Protein	Protein Coding	2
71	SS18L1	SS18L1 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	2
72	IRF4	Interferon Regulatory Factor 4	Protein Coding	2
73	MYO5A	Myosin VA	Protein Coding	2
74	GPR143	G Protein-Coupled Receptor 143	Protein Coding	2
75	SYTL2	Synaptotagmin Like 2	Protein Coding	2
76	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	2
77	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	2
78	DPF2	Double PHD Fingers 2	Protein Coding	2
79	ACTB	Actin Beta	Protein Coding	2
80	BCL7A	BAF Chromatin Remodeling Complex Subunit BCL7A	Protein Coding	2
81	PMEL	Premelanosome Protein	Protein Coding	2
82	SMARCA2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 2	Protein Coding	2
83	SMARCA4	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4	Protein Coding	2
84	SMARCB1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1	Protein Coding	2
85	SMARCC1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit C1	Protein Coding	2
86	SMARCC2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit C2	Protein Coding	2
87	SMARCD1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D1	Protein Coding	2
88	SMARCD2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D2	Protein Coding	2
89	SMARCD3	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D3	Protein Coding	2
90	SMARCE1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit E1	Protein Coding	2
91	SS18	SS18 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	2
92	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	2
93	TYR	Tyrosinase	Protein Coding	2
94	TYRP1	Tyrosinase Related Protein 1	Protein Coding	2
95	USF1	Upstream Transcription Factor 1	Protein Coding	2
96	MLPH	Melanophilin	Protein Coding	2
97	DPF3	Double PHD Fingers 3	Protein Coding	2
98	DPF1	Double PHD Fingers 1	Protein Coding	2
99	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	2
100	ACTL6A	Actin Like 6A	Protein Coding	2
101	BCL7C	BAF Chromatin Remodeling Complex Subunit BCL7C	Protein Coding	2
102	BCL7B	BAF Chromatin Remodeling Complex Subunit BCL7B	Protein Coding	2
103	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
104	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	2
105	CSF1	Colony Stimulating Factor 1	Protein Coding	2
106	DARS1	Aspartyl-TRNA Synthetase 1	Protein Coding	2
107	EDN1	Endothelin 1	Protein Coding	2
108	EDN3	Endothelin 3	Protein Coding	2
109	EDNRB	Endothelin Receptor Type B	Protein Coding	2
110	EP300	EP300 Lysine Acetyltransferase	Protein Coding	2
111	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	2
112	TFEC	Transcription Factor EC	Protein Coding	2
113	ALX3	ALX Homeobox 3	Protein Coding	2
114	FOXD3	Forkhead Box D3	Protein Coding	2
115	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
116	IARS1	Isoleucyl-TRNA Synthetase 1	Protein Coding	2
117	ID1	Inhibitor Of DNA Binding 1	Protein Coding	2
118	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	2
119	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	2
120	MARK3	Microtubule Affinity Regulating Kinase 3	Protein Coding	2
121	MARS1	Methionyl-TRNA Synthetase 1	Protein Coding	2
122	MC1R	Melanocortin 1 Receptor	Protein Coding	2
123	MC3R	Melanocortin 3 Receptor	Protein Coding	2
124	MC4R	Melanocortin 4 Receptor	Protein Coding	2
125	MC5R	Melanocortin 5 Receptor	Protein Coding	2
126	KITLG	KIT Ligand	Protein Coding	2
127	PAX3	Paired Box 3	Protein Coding	2
128	LARS1	Leucyl-TRNA Synthetase 1	Protein Coding	2
129	POMC	Proopiomelanocortin	Protein Coding	2
130	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
131	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
132	QARS1	Glutaminyl-TRNA Synthetase 1	Protein Coding	2
133	RARS1	Arginyl-TRNA Synthetase 1	Protein Coding	2
134	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	2
135	SNAI2	Snail Family Transcriptional Repressor 2	Protein Coding	2
136	SOX9	SRY-Box Transcription Factor 9	Protein Coding	2
137	TBX3	T-Box Transcription Factor 3	Protein Coding	2
138	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	2
139	UBE2I	Ubiquitin Conjugating Enzyme E2 I	Protein Coding	2
140	SUMO1	Small Ubiquitin Like Modifier 1	Protein Coding	2
141	XPO1	Exportin 1	Protein Coding	2
142	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	2
143	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	2
144	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	2
145	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	2
146	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	2
147	ZIC1	Zic Family Zinc Finger 1	Protein Coding	2
148	TFEB	Transcription Factor EB	Protein Coding	2
149	AIMP2	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2	Protein Coding	2
150	TNFSF11	TNF Superfamily Member 11	Protein Coding	2
151	WNT3A	Wnt Family Member 3A	Protein Coding	2
152	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	2
153	EEF1E1	Eukaryotic Translation Elongation Factor 1 Epsilon 1	Protein Coding	2

Disorders associated with MITF-M-dependent gene expression SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Coffin-siris syndrome 1	Enrichment	ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1	10.47
2	Waardenburg syndrome, type 2e	Enrichment	EDNRB, KITLG, MITF, SNAI2, SOX10	10.41
3	Waardenburg syndrome, type 4a	Enrichment	EDN3, EDNRB, MITF, SOX10	8.26
4	Waardenburg syndrome	Enrichment	EDNRB, MITF, PAX3, SOX10	8.26
5	Albinism	Enrichment	DCT, GPR143, TYR, TYRP1	7.35
6	Bladder cancer	Enrichment	ARID1A, BRCA1, CDKN1A, CDKN2A, CTNNB1, TERT	7.19
7	Microcephaly	Enrichment	ACTB, ARID1A, ARID1B, CTNNB1, DIAPH1, EP300, IARS1, KARS1, MAPK1, QARS1, YWHAG	6.86
8	Childhood hepatocellular carcinoma	Enrichment	CTNNB1, MET	5.78
9	Papillary renal cell carcinoma	Enrichment	MET, MITF	5.78
10	Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Enrichment	ATP6V1B2, ATP6V1C1	5.67
11	Autosomal recessive cutis laxa type ii classic type	Enrichment	ATP6V1A, ATP6V1E1	5.67
12	Waardenburg syndrome, type 1	Enrichment	MITF, PAX3, SOX10	5.52
13	Inherited cancer-predisposing syndrome	Enrichment	BRCA1, CDKN2A, DICER1, MET, MITF, SMARCA4, SMARCB1, SMARCE1	5.18
14	Albinism, ocular, type i	Enrichment	GPR143, TYR, TYRP1	5.09
15	Adrenocortical carcinoma	Enrichment	CDKN2A, CTNNB1, TERT	5.09
16	Piebald trait	Enrichment	KIT, SNAI2	4.70
17	Melanoma, cutaneous malignant 1	Enrichment	MITF, TERT	4.66
18	Colorectal cancer	Enrichment	ARID1A, BRCA1, CCND1, CTNNB1, EP300, MET, SOX9	4.25
19	Griscelli syndrome, type 3	Enrichment	MLPH, MYO5A	4.25
20	Vertebral anomalies and variable endocrine and t-cell dysfunction	Enrichment	DICER1, TBX2	4.25
21	Melanoma, cutaneous malignant 8	Enrichment	MITF, TYR	4.25
22	Rhabdoid tumor predisposition syndrome	Enrichment	SMARCA4, SMARCB1	4.25
23	Waardenburg syndrome, type 2a	Enrichment	MITF, SOX10	4.23
24	Melanoma	Enrichment	CDKN2A, MITF	4.13
25	Meningioma	Enrichment	SMARCB1, SMARCE1, TERT	4.06
26	Ovarian cancer	Enrichment	BRCA1, CDKN2A, CTNNB1, DICER1, MET, SMARCB1	3.95
27	Rhabdomyosarcoma, embryonal, 2	Enrichment	DICER1	3.83
28	Dicer1 syndrome	Enrichment	DICER1	3.83
29	Pleuropulmonary blastoma	Enrichment	DICER1	3.83
30	Global developmental delay, lung cysts, overgrowth, and wilms tumor	Enrichment	DICER1	3.83
31	Malignant sertoli-leydig cell tumor of ovary	Enrichment	DICER1	3.83
32	Supratentorial primitive neuroectodermal tumor	Enrichment	DICER1	3.83
33	Gynandroblastoma	Enrichment	DICER1	3.83
34	Dicer1 tumor predisposition	Enrichment	DICER1	3.83
35	Rare genetic deafness	Enrichment	DIAPH1, MITF	3.70
36	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MCM2, MITF	3.67
37	Heterochromia iridis	Enrichment	MITF	3.66
38	Tietz albinism-deafness syndrome	Enrichment	MITF	3.66
39	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Enrichment	MITF	3.66
40	Hereditary breast ovarian cancer syndrome	Enrichment	BRCA1, MITF	3.62
41	Hirschsprung disease 1	Enrichment	EDN3, EDNRB, SOX10	3.54
42	Goiter, multinodular 1, with or without sertoli-leydig cell tumors	Enrichment	DICER1	3.53
43	Pineoblastoma	Enrichment	DICER1	3.53
44	Malignant granulosa cell tumor of the ovary	Enrichment	DICER1	3.53
45	Deafness, autosomal dominant 1, with or without thrombocytopenia	Enrichment	DIAPH1	3.53
46	Seizures, cortical blindness, and microcephaly syndrome	Enrichment	DIAPH1	3.53
47	Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	Enrichment	DIAPH1	3.53
48	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	3.53
49	Testicular germ cell tumor	Enrichment	KIT, KITLG	3.53
50	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	3.53
51	Nicolaides-baraitser syndrome	Enrichment	ARID1B, SMARCA2	3.48
52	Blepharophimosis	Enrichment	ARID1B, SMARCA2	3.48
53	Smarca2-related nicolaides-baraitser syndrome	Enrichment	ARID1B, SMARCA2	3.48
54	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB, SERPINE1	3.48
55	Intraocular pressure quantitative trait locus	Enrichment	CREBBP, ZEB1	3.42
56	Renal cell carcinoma	Enrichment	MET, TFE3	3.42
57	Hepatocellular carcinoma	Enrichment	CTNNB1, MET	3.42
58	Renal cell carcinoma with mit translocations	Enrichment	TFE3, TFEB	3.39
59	Corneal dystrophy, posterior polymorphous, 3	Enrichment	ZEB1	3.35
60	Corneal dystrophy, fuchs endothelial, 6	Enrichment	ZEB1	3.35
61	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	3.35
62	Infant-type hemispheric glioma	Enrichment	BRCA1	3.35
63	Deafness, autosomal dominant 70	Enrichment	MCM2	3.35
64	Meier-gorlin syndrome 8	Enrichment	MCM5	3.35
65	Immunodeficiency 96	Enrichment	LIG1	3.35
66	Autosomal recessive dyskeratosis congenita 4	Enrichment	TERT	3.35
67	Primary peritoneal carcinoma	Enrichment	BRCA1	3.35
68	Complex neurodevelopmental disorder	Enrichment	AGO1, AGO2, TNRC6B	3.26
69	Corpus callosum, agenesis of	Enrichment	ARID1B, CDH2, CREBBP	3.24
70	Isolated corpus callosum agenesis	Enrichment	ARID1B, CDH2, CREBBP	3.24
71	Rare genetic intellectual disability	Enrichment	ARID1B, CREBBP, EP300	3.24
72	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	ARID1B, CDH2, CREBBP	3.24
73	Embryonal rhabdomyosarcoma	Enrichment	DICER1	3.23
74	Corneal dystrophy	Enrichment	ZEB1	3.23
75	Fuchs' endothelial dystrophy	Enrichment	ZEB1	3.13
76	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Enrichment	CDH2	3.09
77	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	3.09
78	Arrhythmogenic right ventricular dysplasia, familial, 14	Enrichment	CDH2	3.09
79	Attention deficit-hyperactivity disorder 8	Enrichment	CDH2	3.09
80	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	3.09
81	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	3.09
82	Clear cell papillary renal cell carcinoma	Enrichment	MITF	3.05
83	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	Enrichment	TERT	3.05
84	Fanconi anemia, complementation group s	Enrichment	BRCA1	3.05
85	Pancreatic cancer 4	Enrichment	BRCA1	3.05
86	Melanoma, cutaneous malignant 9	Enrichment	TERT	3.05
87	Idiopathic interstitial pneumonia	Enrichment	TERT	3.05
88	Inflammatory breast carcinoma	Enrichment	BRCA1	3.05
89	Peritoneum cancer	Enrichment	BRCA1	3.05
90	Bilateral breast cancer	Enrichment	BRCA1	3.05
91	Corneal dystrophy, posterior polymorphous, 1	Enrichment	ZEB1	3.05
92	Deafness, congenital, with onychodystrophy, autosomal dominant	Enrichment	ATP6V1B2	3.05
93	Keloid formation	Enrichment	ASAH1	3.05
94	Cutis laxa, autosomal recessive, type iid	Enrichment	ATP6V1A	3.05
95	Zimmermann-laband syndrome 2	Enrichment	ATP6V1B2	3.05
96	Cutis laxa, autosomal recessive, type iic	Enrichment	ATP6V1E1	3.05
97	Asah1-related disorders	Enrichment	ASAH1	3.05
98	Epilepsy, early-onset, 3, with or without developmental delay	Enrichment	ATP6V0C	3.05
99	Autosomal dominant deafness - onychodystrophy syndrome	Enrichment	ATP6V1B2	3.05
100	Specific learning disability	Enrichment	MAPK1, YWHAG	2.97
101	Oculocutaneous albinism	Enrichment	TYR, TYRP1	2.94
102	Albinism, oculocutaneous, type ii	Enrichment	MC1R, TYRP1	2.91
103	Interstitial lung disease	Enrichment	TERT	2.88
104	Macrocytic anemia	Enrichment	TERT	2.88
105	Neuromyotonia and axonal neuropathy, autosomal recessive	Enrichment	HINT1	2.88
106	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	2.88
107	Osteofibrous dysplasia	Enrichment	MET	2.88
108	Deafness, autosomal recessive 97	Enrichment	MET	2.88
109	Autism 9	Enrichment	MET	2.88
110	Adenoid ameloblastoma	Enrichment	CTNNB1	2.88
111	Arthrogryposis, distal, type 11	Enrichment	MET	2.88
112	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.88
113	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	2.88
114	Microcystic stromal tumor	Enrichment	CTNNB1	2.88
115	Global developmental delay with speech and behavioral abnormalities	Enrichment	TNRC6B	2.88
116	Epilepsy, familial adult myoclonic, 6	Enrichment	TNRC6A	2.88
117	Body mass index quantitative trait locus 11	Enrichment	MC3R, MC4R, POMC	2.84
118	Anterior segment dysgenesis 7	Enrichment	PXDN	2.79
119	Congenital disorder of glycosylation, type ix	Enrichment	STT3B	2.79
120	Intellectual developmental disorder, autosomal dominant 39	Enrichment	PXDN	2.79
121	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1	2.75
122	Cholangiocarcinoma	Enrichment	BRCA1	2.75
123	Lung sarcomatoid carcinoma	Enrichment	TERT	2.75
124	Moyamoya disease 1	Enrichment	DIAPH1	2.75
125	Pendred syndrome	Enrichment	DIAPH1	2.75
126	Spinal muscular atrophy with progressive myoclonic epilepsy	Enrichment	ASAH1	2.75
127	Farber lipogranulomatosis	Enrichment	ASAH1	2.75
128	Developmental and epileptic encephalopathy 93	Enrichment	ATP6V1A	2.75
129	Childhood-onset epilepsy syndrome	Enrichment	ATP6V0C	2.75
130	Hypertrichosis	Enrichment	ARID1B, CREBBP	2.74
131	Kidney clear cell sarcoma	Enrichment	TERT, YWHAE	2.74
132	Breast-ovarian cancer, familial 2	Enrichment	BRCA1	2.66
133	Idiopathic aplastic anemia	Enrichment	TERT	2.66
134	Rhabdomyosarcoma	Enrichment	DICER1	2.63
135	Dyskeratosis congenita, autosomal dominant 1	Enrichment	TERT	2.58
136	Pulmonary fibrosis	Enrichment	TERT	2.58
137	Hoyeraal-hreidarsson syndrome	Enrichment	TERT	2.58
138	Zimmermann-laband syndrome 1	Enrichment	ATP6V1B2	2.58
139	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	2.58
140	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	2.58
141	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.58
142	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	2.58
143	Split hand-foot malformation	Enrichment	LEF1	2.58
144	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	2.58
145	Witteveen-kolk syndrome	Enrichment	SIN3A	2.58
146	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.58
147	Teratoma	Enrichment	CTNNB1	2.58
148	Premature ovarian failure 3	Enrichment	AGO2	2.58
149	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	Enrichment	AGO1	2.58
150	Intravascular large b-cell lymphoma	Enrichment	BCL2	2.58
151	Meningioma, familial	Enrichment	SMARCB1, SMARCE1	2.53
152	Atrial heart septal defect	Enrichment	ACTL6A, SMARCA4	2.53
153	Interatrial communication	Enrichment	ACTL6A, SMARCA4	2.53
154	Dyskeratosis congenita, autosomal dominant 2	Enrichment	TERT	2.51
155	Microphthalmia, syndromic 3	Enrichment	SOX2	2.49
156	Septooptic dysplasia	Enrichment	ARID1A, SOX2	2.45
157	Leukodystrophy	Enrichment	KARS1, RARS1	2.45
158	Desmoid disease, hereditary	Enrichment	CTNNB1	2.40
159	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	2.40
160	Anus, imperforate	Enrichment	CTNNB1	2.40
161	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	2.40
162	Desmoid tumor	Enrichment	CTNNB1	2.40
163	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	2.40
164	Lessel-kreienkamp syndrome	Enrichment	AGO2	2.40
165	Aplastic anemia	Enrichment	TERT	2.35
166	Craniofacial-deafness-hand syndrome	Enrichment	PAX3	2.35
167	Frontonasal dysplasia 1	Enrichment	ALX3	2.35
168	Waardenburg syndrome, type 3	Enrichment	PAX3	2.35
169	Leukodystrophy, hypomyelinating, 3	Enrichment	AIMP1	2.35
170	Body mass index quantitative trait locus 9	Enrichment	MC3R	2.35
171	Mastocytosis, cutaneous	Enrichment	KIT	2.35
172	Infantile liver failure syndrome 1	Enrichment	LARS1	2.35
173	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	2.35
174	Increased analgesia from kappa-opioid receptor agonist, female-specific	Enrichment	MC1R	2.35
175	Craniosynostosis 6	Enrichment	ZIC1	2.35
176	Hirschsprung disease 4	Enrichment	EDN3	2.35
177	Waardenburg syndrome, type 4b	Enrichment	EDN3	2.35
178	Auriculocondylar syndrome 3	Enrichment	EDN1	2.35
179	Noonan syndrome 13	Enrichment	MAPK1	2.35
180	46,xy sex reversal 10	Enrichment	SOX9	2.35
181	Skin/hair/eye pigmentation, variation in, 2	Enrichment	MC1R	2.35
182	46,xx sex reversal 2	Enrichment	SOX9	2.35
183	Orofacial cleft 10	Enrichment	SUMO1	2.35
184	Renal cell carcinoma, xp11-associated	Enrichment	TFE3	2.35
185	Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies	Enrichment	TFE3	2.35
186	Body mass index quantitative trait locus 20	Enrichment	MC4R	2.35
187	Charcot-marie-tooth disease, recessive intermediate b	Enrichment	KARS1	2.35
188	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.35
189	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	2.35
190	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	Enrichment	IARS1	2.35
191	Leukodystrophy, hypomyelinating, 9	Enrichment	RARS1	2.35
192	Question mark ears, isolated	Enrichment	EDN1	2.35
193	Melanoma, cutaneous malignant 5	Enrichment	MC1R	2.35
194	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	2.35
195	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	Enrichment	DARS1	2.35
196	Structural brain anomalies with impaired intellectual development and craniosynostosis	Enrichment	ZIC1	2.35
197	Visual impairment and progressive phthisis bulbi	Enrichment	MARK3	2.35
198	Charcot-marie-tooth disease, axonal, type 2u	Enrichment	MARS1	2.35
199	Leukodystrophy, hypomyelinating, 15	Enrichment	EPRS1	2.35
200	Trichothiodystrophy 9, nonphotosensitive	Enrichment	MARS1	2.35
201	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.35
202	Chronic mast cell leukemia	Enrichment	KIT	2.35
203	Obesity due to melanocortin 4 receptor deficiency	Enrichment	MC4R	2.35
204	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Enrichment	KARS1	2.35
205	Deafness, autosomal dominant 69	Enrichment	KITLG	2.35
206	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.35
207	Capillary hemangioma	Enrichment	AKT3	2.35
208	Isolated bone marrow mastocytosis	Enrichment	KIT	2.35
209	Smoldering systemic mastocytosis	Enrichment	KIT	2.35
210	Mastocytosis	Enrichment	KIT	2.35
211	Menke-hennekam syndrome	Enrichment	CREBBP	2.35
212	Pulmonary alveolar proteinosis	Enrichment	MARS1	2.35
213	Familial progressive hyperpigmentation	Enrichment	KITLG	2.35
214	Cutaneous mastocytoma	Enrichment	KIT	2.35
215	Typical urticaria pigmentosa	Enrichment	KIT	2.35
216	Nodular urticaria pigmentosa	Enrichment	KIT	2.35
217	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	2.35
218	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	2.35
219	Acute mast cell leukemia	Enrichment	KIT	2.35
220	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	2.35
221	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	2.35
222	Plaque-form urticaria pigmentosa	Enrichment	KIT	2.35
223	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	2.35
224	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Enrichment	QARS1	2.35
225	Testis seminoma	Enrichment	KIT	2.35
226	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2	2.31
227	Uterine corpus cancer	Enrichment	BRCA1	2.31
228	Pilomatrixoma	Enrichment	CTNNB1	2.28
229	Alazami syndrome	Enrichment	CTNNB1	2.28
230	Mantle cell lymphoma	Enrichment	CCND1	2.28
231	Craniopharyngioma	Enrichment	CTNNB1	2.28
232	Ear malformation	Enrichment	MITF	2.28
233	Optic nerve disease	Enrichment	KARS1, TYR	2.27
234	Glaucoma 3, primary congenital, a	Enrichment	PXDN	2.25
235	Breast-ovarian cancer, familial 1	Enrichment	BRCA1	2.24
236	Periventricular nodular heterotopia	Enrichment	BRCA1	2.21
237	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	ARID1A, ARID1B	2.20
238	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	2.18
239	Von hippel-lindau syndrome	Enrichment	CCND1	2.18
240	Night blindness, congenital stationary, type 1c	Enrichment	TRPM1	2.18
241	Follicular lymphoma	Enrichment	BCL2	2.18
242	Night blindness	Enrichment	TRPM1	2.18
243	Interstitial lung disease 2	Enrichment	TERT	2.13
244	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.12
245	Torticollis	Enrichment	ACTL6A	2.12
246	Nystagmus 6, congenital, x-linked	Enrichment	GPR143	2.12
247	Baraitser-winter syndrome 1	Enrichment	ACTB	2.12
248	Griscelli syndrome, type 2	Enrichment	RAB27A	2.12
249	Hyperlipidemia, familial combined, 1	Enrichment	USF1	2.12
250	Albinism, oculocutaneous, type ib	Enrichment	TYR	2.12
251	Skin/hair/eye pigmentation, variation in, 8	Enrichment	IRF4	2.12
252	Coffin-siris syndrome 5	Enrichment	SMARCE1	2.12
253	Griscelli syndrome, type 1	Enrichment	MYO5A	2.12
254	Elejalde neuroectodermal melanolysosomal syndrome	Enrichment	MYO5A	2.12
255	Skin/hair/eye pigmentation, variation in, 3	Enrichment	TYR	2.12
256	Coffin-siris syndrome 11	Enrichment	SMARCD1	2.12
257	Hydrocephalus, congenital, 5	Enrichment	SMARCC1	2.12
258	Immunodeficiency 131	Enrichment	IRF4	2.12
259	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	2.12
260	Becker nevus syndrome	Enrichment	ACTB	2.12
261	Dystonia-deafness syndrome 1	Enrichment	ACTB	2.12
262	Rhabdoid tumor predisposition syndrome 1	Enrichment	SMARCB1	2.12
263	Neurilemmoma	Enrichment	SMARCB1	2.12
264	Coffin-siris syndrome 3	Enrichment	SMARCB1	2.12
265	Smarca4-deficient sarcoma of thorax	Enrichment	SMARCA4	2.12
266	Arid1b-related disorder	Enrichment	ARID1B	2.12
267	Ovarian small cell carcinoma	Enrichment	SMARCA4	2.12
268	Blepharophimosis-impaired intellectual development syndrome	Enrichment	SMARCA2	2.12
269	Coffin-siris syndrome 7	Enrichment	DPF2	2.12
270	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	2.12
271	Griscelli syndrome	Enrichment	RAB27A	2.12
272	Baraitser-winter syndrome	Enrichment	ACTB	2.12
273	Facial cleft	Enrichment	SMARCE1	2.12
274	Minimal pigment oculocutaneous albinism type 1	Enrichment	TYR	2.12
275	Autosomal recessive severe congenital neutropenia	Enrichment	SMARCD2	2.12
276	Congenital smooth muscle hamartoma	Enrichment	ACTB	2.12
277	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	2.12
278	Whipple disease	Enrichment	IRF4	2.12
279	Hypopigmentation of the skin	Enrichment	TYR	2.12
280	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.12
281	Auditory neuropathy	Enrichment	DIAPH1	2.12
282	Lip and oral cavity carcinoma	Enrichment	CDKN2A, KIT	2.11
283	Li-fraumeni syndrome	Enrichment	CDKN2A	2.10
284	Weyers acrofacial dysostosis	Enrichment	CTNNB1	2.10
285	Split-hand/foot malformation 1	Enrichment	LEF1	2.10
286	Lung squamous cell carcinoma	Enrichment	CDKN2A	2.10
287	Non-syndromic genetic deafness	Enrichment	MITF	2.10
288	Dyskeratosis congenita	Enrichment	TERT	2.08
289	Nanophthalmos	Enrichment	SOX2	2.05
290	Campomelic dysplasia	Enrichment	SOX9	2.05
291	Aganglionosis, total intestinal	Enrichment	EDNRB	2.05
292	Thumb deformity	Enrichment	CREBBP	2.05
293	Ulnar-mammary syndrome	Enrichment	TBX3	2.05
294	Abcd syndrome	Enrichment	EDNRB	2.05
295	Alveolar soft part sarcoma	Enrichment	TFE3	2.05
296	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.05
297	Waardenburg syndrome, type 4c	Enrichment	SOX10	2.05
298	Intellectual developmental disorder, autosomal dominant 43	Enrichment	QARS1	2.05
299	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	2.05
300	Waardenburg syndrome, type 2f	Enrichment	KITLG	2.05
301	Deafness, congenital, and adult-onset progressive leukoencephalopathy	Enrichment	KARS1	2.05
302	Spastic paraplegia 70, autosomal recessive	Enrichment	MARS1	2.05
303	Menke-hennekam syndrome 2	Enrichment	EP300	2.05
304	Deafness, autosomal recessive 89	Enrichment	KARS1	2.05
305	Leukodystrophy, hypomyelinating, 17	Enrichment	AIMP2	2.05
306	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.05
307	Senior-loken syndrome 7	Enrichment	AKT3	2.05
308	Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	Enrichment	SOX10	2.05
309	Interstitial lung and liver disease	Enrichment	MARS1	2.05
310	Bardet-biedl syndrome 16	Enrichment	AKT3	2.05
311	Isolated dandy-walker malformation with hydrocephalus	Enrichment	ZIC1	2.05
312	Primary mediastinal large b-cell lymphoma	Enrichment	XPO1	2.05
313	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	2.05
314	Campomelic dysplasia and related disorders	Enrichment	SOX9	2.05
315	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	2.03
316	Renal cell carcinoma, papillary, 1	Enrichment	MET	2.03
317	Gallbladder cancer	Enrichment	CTNNB1	2.03
318	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	CDKN2A	2.03
319	Endometrial cancer	Enrichment	BRCA1	2.03
320	Hepatoblastoma	Enrichment	TERT	2.03
321	Nonsyndromic hearing loss	Enrichment	MITF	2.03
322	Cutis laxa	Enrichment	ATP6V1E1	1.98
323	Arthrogryposis, distal, type 1a	Enrichment	MET	1.98
324	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.98
325	Pancreatic cancer	Enrichment	BRCA1	1.96
326	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	CDH2	1.95
327	Microphthalmia	Enrichment	SOX2, TFAP2A	1.93
328	Epilepsy	Enrichment	DIAPH1	1.93
329	Adult hepatocellular carcinoma	Enrichment	CTNNB1	1.93
330	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	TNRC6B	1.93
331	Anterior segment dysgenesis	Enrichment	PXDN	1.92
332	Prostate cancer	Enrichment	BRCA1	1.89
333	Differentiated thyroid carcinoma	Enrichment	TERT	1.89
334	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PPARGC1A	1.89
335	Leukemia, chronic lymphocytic	Enrichment	CCND1	1.88
336	Hirschsprung disease 2	Enrichment	EDNRB	1.87
337	46,xx sex reversal 1	Enrichment	SOX9	1.87
338	Obesity, early-onset, with adrenal insufficiency and red hair	Enrichment	POMC	1.87
339	Autoimmune disease 1	Enrichment	FOXD3	1.87
340	Osteoporosis, juvenile	Enrichment	WNT3A	1.87
341	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.87
342	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.87
343	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	Enrichment	QARS1	1.87
344	Tethered spinal cord syndrome	Enrichment	CREBBP	1.87
345	Testicular germ cell cancer	Enrichment	KIT	1.87
346	Melanoma of soft tissue	Enrichment	CREB1	1.87
347	Isolated dandy-walker malformation without hydrocephalus	Enrichment	ZIC1	1.87
348	Obesity due to pro-opiomelanocortin deficiency	Enrichment	POMC	1.87
349	Lung cancer	Enrichment	BRCA1	1.85
350	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.84
351	Alopecia, androgenetic, 1	Enrichment	SMARCD1	1.82
352	Albinism, oculocutaneous, type iii	Enrichment	TYRP1	1.82
353	Trichomegaly	Enrichment	ARID1B	1.82
354	Specific granule deficiency 1	Enrichment	SMARCD2	1.82
355	Rhabdoid tumor predisposition syndrome 2	Enrichment	SMARCA4	1.82
356	Schwannomatosis 1	Enrichment	SMARCB1	1.82
357	Chromosome 6q24-q25 deletion syndrome	Enrichment	ARID1B	1.82
358	Albinism, oculocutaneous, type ia	Enrichment	TYR	1.82
359	Skin/hair/eye pigmentation, variation in, 11	Enrichment	TYRP1	1.82
360	Oculocutaneous albinism, type viii	Enrichment	DCT	1.82
361	Severe combined immunodeficiency with sensitivity to ionizing radiation	Enrichment	ARID1B	1.82
362	Specific granule deficiency 2	Enrichment	SMARCD2	1.82
363	Coffin-siris syndrome 8	Enrichment	SMARCC2	1.82
364	Otosclerosis 12	Enrichment	SMARCA4	1.82
365	Coffin-siris syndrome 4	Enrichment	SMARCA4	1.82
366	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB	1.82
367	Esotropia	Enrichment	TFAP2A	1.82
368	Blepharophimosis - intellectual disability syndrome	Enrichment	SMARCA2	1.82
369	Lens subluxation	Enrichment	TFAP2A	1.82
370	Specific granule deficiency	Enrichment	SMARCD2	1.82
371	Arteriovenous malformations of the brain	Enrichment	CDH2	1.82
372	Fanconi anemia, complementation group a	Enrichment	BRCA1	1.81
373	Macs syndrome	Enrichment	SOX2	1.79
374	Leukemia, acute myeloid	Enrichment	TERT	1.76
375	Auriculocondylar syndrome 1	Enrichment	EDN1	1.75
376	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3	1.75
377	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.75
378	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3	1.75
379	Malignant epithelioid hemangioendothelioma	Enrichment	TFE3	1.75
380	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.75
381	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.75
382	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	1.75
383	Non-syndromic bicoronal craniosynostosis	Enrichment	ZIC1	1.75
384	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.75
385	Medulloblastoma	Enrichment	CTNNB1	1.73
386	Gastric cancer	Enrichment	BRCA1	1.72
387	Hereditary breast carcinoma	Enrichment	BRCA1	1.71
388	Sensorineural hearing loss	Enrichment	EDN3, KARS1	1.71
389	Renal cell carcinoma, nonpapillary	Enrichment	MET	1.70
390	Hypogonadotropic hypogonadism 1 with or without anosmia	Enrichment	SOX10	1.65
391	Rhabdomyosarcoma 2	Enrichment	PAX3	1.65
392	Liver failure, infantile, transient	Enrichment	LARS1	1.65
393	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.65
394	Acute myeloid leukemia with maturation	Enrichment	KIT	1.65
395	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	SOX9	1.65
396	Hemimegalencephaly	Enrichment	AKT3	1.65
397	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.65
398	Endometrial stromal sarcoma	Enrichment	YWHAE	1.65
399	Polycystic liver disease	Enrichment	CTNNB1	1.65
400	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.65
401	Sarcoma, synovial	Enrichment	SS18	1.65
402	Nail disorder, nonsyndromic congenital, 9	Enrichment	ARID1B	1.65
403	Coffin-siris syndrome 2	Enrichment	ARID1A	1.65
404	Umbilical hernia	Enrichment	ACTL6A	1.65
405	Atypical teratoid rhabdoid tumor	Enrichment	SMARCB1	1.65
406	Periventricular leukomalacia	Enrichment	ARID1A	1.65
407	Schwannomatosis	Enrichment	SMARCB1	1.65
408	Rasopathy	Enrichment	ATP6V1E1	1.64
409	Pierre robin syndrome	Enrichment	SOX9	1.57
410	Branchiooculofacial syndrome	Enrichment	TFAP2A	1.53
411	Aminoacylase 1 deficiency	Enrichment	ACTB	1.53
412	Full schwannomatosis	Enrichment	SMARCB1	1.53
413	Precursor t-cell acute lymphoblastic leukemia	Enrichment	CDKN2A	1.52
414	Congenital stationary night blindness	Enrichment	TRPM1	1.52
415	Gastrointestinal stromal tumor	Enrichment	KIT	1.51
416	Megacolon	Enrichment	AKT3	1.51
417	Fetal akinesia deformation sequence 1	Enrichment	ASAH1	1.49
418	Deafness, autosomal recessive	Enrichment	EDNRB, KARS1	1.49
419	Breast cancer	Enrichment	BRCA1	1.49
420	Autosomal recessive nonsyndromic deafness	Enrichment	EDNRB, KARS1	1.47
421	Benign epilepsy with centrotemporal spikes	Enrichment	ASAH1	1.45
422	Distal arthrogryposis	Enrichment	ASAH1	1.44
423	Hyperlipidemia, familial combined, 3	Enrichment	USF1	1.43
424	Amblyopia	Enrichment	TFAP2A	1.43
425	Centralopathic epilepsy	Enrichment	ASAH1	1.43
426	Type 2 diabetes mellitus	Enrichment	AKT2, TCF7L2	1.40
427	Charge syndrome	Enrichment	EP300	1.40
428	Congenital central hypoventilation syndrome	Enrichment	EDN3	1.40
429	Peripheral nervous system disease	Enrichment	HINT1	1.38
430	Neuropathy	Enrichment	HINT1	1.38
431	Polymicrogyria	Enrichment	AKT3	1.36
432	Branchiootorenal syndrome 1	Enrichment	TFAP2A	1.35
433	Wiedemann-steiner syndrome	Enrichment	ARID1B	1.35
434	Inguinal hernia	Enrichment	ACTL6A	1.35
435	46,xy complete gonadal dysgenesis	Enrichment	SOX9	1.32
436	Undetermined early-onset epileptic encephalopathy	Enrichment	ATP6V1A	1.31
437	Autism spectrum disorder	Enrichment	ARID1B, SMARCB1, TNRC6B	1.31
438	Branchiootorenal syndrome	Enrichment	TFAP2A	1.29
439	Congenital hydrocephalus	Enrichment	SMARCC1	1.29
440	Lactic acidosis	Enrichment	KARS1	1.28
441	Gastroesophageal reflux	Enrichment	ACTL6A	1.23
442	Neuroblastoma	Enrichment	SMARCA4	1.23
443	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	EDNRB, KARS1	1.22
444	Heart disease	Enrichment	CREBBP	1.21
445	46,xy partial gonadal dysgenesis	Enrichment	SOX9	1.21
446	Polydactyly, postaxial, type a1	Enrichment	EP300	1.18
447	Ventricular septal defect	Enrichment	SMARCA4	1.18
448	Myeloma, multiple	Enrichment	CCND1	1.14
449	Cat eye syndrome	Enrichment	TFAP2A	1.14
450	Heart, malformation of	Enrichment	MAPK1	1.11
451	Diffuse large b-cell lymphoma	Enrichment	CREBBP	1.09
452	Congenital nervous system abnormality	Enrichment	CREBBP, CTNNB1	1.08
453	Nervous system disease	Enrichment	CREBBP, CTNNB1	1.08
454	Epicanthus	Enrichment	TFAP2A	1.06
455	Autism	Enrichment	TCF7L2	1.04
456	Hypercholesterolemia, familial, 1	Enrichment	SMARCA4	1.03
457	Nk-cell enteropathy	Enrichment	SMARCB1	1.03
458	Tooth agenesis	Enrichment	SUMO1	1.02
459	Kallmann syndrome	Enrichment	SOX10	1.01
460	Pituitary stalk interruption syndrome	Enrichment	SMARCA2	1.00
461	Scoliosis	Enrichment	CREBBP	0.99
462	Myopia	Enrichment	TYR	0.97
463	Familial hypercholesterolemia	Enrichment	SMARCA4	0.97
464	Cleft palate, isolated	Enrichment	SMARCA4	0.92
465	Connective tissue disease	Enrichment	SOX9	0.87
466	Multisystem inflammatory syndrome in children	Enrichment	RAB27A	0.82
467	Skin disease	Enrichment	TYR	0.82
468	Autoinflammatory disease	Enrichment	RAB27A	0.78
469	Hydrops fetalis, nonimmune	Enrichment	ARID1A	0.75
470	Strabismus	Enrichment	TYR	0.73
471	Autosomal dominant non-syndromic intellectual disability	Enrichment	YWHAZ	0.69
472	Non-immune hydrops fetalis	Enrichment	ARID1A	0.68
473	Autosomal recessive non-syndromic intellectual disability	Enrichment	AIMP1	0.64
474	Dystonia	Enrichment	MYO5A	0.63
475	Eye disease	Enrichment	TYR	0.63
476	Cerebral palsy	Enrichment	SMARCA4	0.59
477	Hereditary retinal dystrophy	Enrichment	TRPM1	0.49
478	Fundus dystrophy	Enrichment	TRPM1	0.49
479	Hypertelorism	Enrichment	TFAP2A	0.49

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

MITF-M-dependent gene expression

Pathway Network for MITF-M-dependent gene expression

Pathway network for the MITF-M-dependent gene expression SuperPath

Member Pathways for MITF-M-dependent gene expression

Pathways in the MITF-M-dependent gene expression SuperPath

Gene overlap in member pathways for MITF-M-dependent gene expression SuperPath

Associated Genes for MITF-M-dependent gene expression

Associated Disorders for MITF-M-dependent gene expression

Disorders associated with MITF-M-dependent gene expression SuperPath

STRING Interaction Network for MITF-M-dependent gene expression

Sources for MITF-M-dependent gene expression