Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

No Pathway Network information available for Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

Pathways in the Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers SuperPath

#	Name	Source	Genes
1	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers	R&D Systems	AFP ALB ALCAM ALPP ASCL1 ASCL2 ATF2 BMI1 BMP4 BMPR1A CDX1 CDX2 CDX4 CFTR CXCR4 DKK1 DLK1 EGF EOMES EPCAM FGF10 FGF11 FGF13 FGF18 FGF2 FGF3 FGF4 FGF7 FLT3LG FOXA1 FOXA2 FOXD3 FOXF1 FOXJ1 GATA1 GATA2 GATA4 GBX2 GJA1 GSC HGF HNF1B IGF1 IL11 IL3 IL6 INHBA INS IRF6 ISL1 ITGB1 KDR KITLG KLF2 KLF4 KLF5 KLRG1 KRT19 LGR4 LGR5 LIF LIN28A LMO2 LMO4 LRIG1 MEF2C MET MITF MIXL1 MSI1 MSX1 MYC NANOG NCAM1 NES NEUROD1 NEUROG3 NGFR NKX2-2 NKX2-5 NKX6-1 NODAL NOG NOTCH1 ONECUT1 ONECUT2 OTX2 PAX2 PAX4 PAX6 PCSK1 PCSK2 PDGFB PDGFRB PDX1 PODXL POU5F1 PROM1 PROX1 PTF1A RUNX1 SERPINA1 SHH SIRPA SLC2A2 SMARCA4 SNAI1 SOX1 SOX17 SOX2 SOX7 SOX9 STAT3 TBX5 TBX6 TBXT TCF3 TERT TGFB1 THPO TNNI3 TNNT2 TP63 UTF1 VCAM1 VEGFA VIM WNT2 WNT2B WNT3A WNT5A WT1 ZFP42 (see all 133) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
2	KLF4	KLF Transcription Factor 4	Protein Coding	1
3	LIN28A	Lin-28 RNA Binding Posttranscriptional Regulator A	Protein Coding	1
4	NANOG	Nanog Homeobox	Protein Coding	1
5	POU5F1	POU Class 5 Homeobox 1	Protein Coding	1
6	SOX2	SRY-Box Transcription Factor 2	Protein Coding	1
7	INHBA	Inhibin Subunit Beta A	Protein Coding	1
8	BMP4	Bone Morphogenetic Protein 4	Protein Coding	1
9	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
10	LIF	LIF Interleukin 6 Family Cytokine	Protein Coding	1
11	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
12	ALPP	Alkaline Phosphatase, Placental	Protein Coding	1
13	PROM1	Prominin 1	Protein Coding	1
14	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	1
15	PODXL	Podocalyxin Like	Protein Coding	1
16	FOXD3	Forkhead Box D3	Protein Coding	1
17	KLF2	KLF Transcription Factor 2	Protein Coding	1
18	KLF5	KLF Transcription Factor 5	Protein Coding	1
19	ZFP42	ZFP42 Zinc Finger Protein	Protein Coding	1
20	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
21	UTF1	Undifferentiated Embryonic Cell Transcription Factor 1	Protein Coding	1
22	NOG	Noggin	Protein Coding	1
23	GBX2	Gastrulation Brain Homeobox 2	Protein Coding	1
24	OTX2	Orthodenticle Homeobox 2	Protein Coding	1
25	PAX2	Paired Box 2	Protein Coding	1
26	PAX6	Paired Box 6	Protein Coding	1
27	EGF	Epidermal Growth Factor	Protein Coding	1
28	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	1
29	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	1
30	NGFR	Nerve Growth Factor Receptor	Protein Coding	1
31	NOTCH1	Notch Receptor 1	Protein Coding	1
32	ASCL1	Achaete-Scute Family BHLH Transcription Factor 1	Protein Coding	1
33	SMARCA4	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4	Protein Coding	1
34	MSI1	Musashi RNA Binding Protein 1	Protein Coding	1
35	NES	Nestin	Protein Coding	1
36	NEUROD1	Neuronal Differentiation 1	Protein Coding	1
37	SOX1	SRY-Box Transcription Factor 1	Protein Coding	1
38	SOX9	SRY-Box Transcription Factor 9	Protein Coding	1
39	VIM	Vimentin	Protein Coding	1
40	IRF6	Interferon Regulatory Factor 6	Protein Coding	1
41	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	1
42	MSX1	Msh Homeobox 1	Protein Coding	1
43	TP63	Tumor Protein P63	Protein Coding	1
44	TCF3	Transcription Factor 3	Protein Coding	1
45	KDR	Kinase Insert Domain Receptor	Protein Coding	1
46	TBXT	T-Box Transcription Factor T	Protein Coding	1
47	EOMES	Eomesodermin	Protein Coding	1
48	FOXF1	Forkhead Box F1	Protein Coding	1
49	MIXL1	Mix Paired-Like Homeobox	Protein Coding	1
50	SNAI1	Snail Family Transcriptional Repressor 1	Protein Coding	1
51	TBX6	T-Box Transcription Factor 6	Protein Coding	1
52	INS	Insulin	Protein Coding	1
53	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
54	IL3	Interleukin 3	Protein Coding	1
55	IL6	Interleukin 6	Protein Coding	1
56	IL11	Interleukin 11	Protein Coding	1
57	KITLG	KIT Ligand	Protein Coding	1
58	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
59	FLT3LG	Fms Related Receptor Tyrosine Kinase 3 Ligand	Protein Coding	1
60	THPO	Thrombopoietin	Protein Coding	1
61	GATA1	GATA Binding Protein 1	Protein Coding	1
62	LMO2	LIM Domain Only 2	Protein Coding	1
63	LMO4	LIM Domain Only 4	Protein Coding	1
64	RUNX1	RUNX Family Transcription Factor 1	Protein Coding	1
65	DKK1	Dickkopf Wnt Signaling Pathway Inhibitor 1	Protein Coding	1
66	FGF3	Fibroblast Growth Factor 3	Protein Coding	1
67	FGF10	Fibroblast Growth Factor 10	Protein Coding	1
68	FGF11	Fibroblast Growth Factor 11	Protein Coding	1
69	FGF13	Fibroblast Growth Factor 13	Protein Coding	1
70	WNT5A	Wnt Family Member 5A	Protein Coding	1
71	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
72	SIRPA	Signal Regulatory Protein Alpha	Protein Coding	1
73	ATF2	Activating Transcription Factor 2	Protein Coding	1
74	GATA2	GATA Binding Protein 2~Name Same As:- HGNC:18350	Protein Coding	1
75	ISL1	ISL LIM Homeobox 1	Protein Coding	1
76	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
77	NKX2-5	NK2 Homeobox 5	Protein Coding	1
78	TBX5	T-Box Transcription Factor 5	Protein Coding	1
79	WT1	WT1 Transcription Factor	Protein Coding	1
80	GJA1	Gap Junction Protein Alpha 1	Protein Coding	1
81	VCAM1	Vascular Cell Adhesion Molecule 1	Protein Coding	1
82	GATA4	GATA Binding Protein 4	Protein Coding	1
83	TNNI3	Troponin I3, Cardiac Type	Protein Coding	1
84	TNNT2	Troponin T2, Cardiac Type	Protein Coding	1
85	NODAL	Nodal Growth Differentiation Factor	Protein Coding	1
86	WNT3A	Wnt Family Member 3A	Protein Coding	1
87	GSC	Goosecoid Homeobox	Protein Coding	1
88	FOXA2	Forkhead Box A2	Protein Coding	1
89	SOX17	SRY-Box Transcription Factor 17	Protein Coding	1
90	SOX7	SRY-Box Transcription Factor 7	Protein Coding	1
91	FGF4	Fibroblast Growth Factor 4	Protein Coding	1
92	HGF	Hepatocyte Growth Factor	Protein Coding	1
93	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
94	ALB	Albumin	Protein Coding	1
95	SERPINA1	Serpin Family A Member 1	Protein Coding	1
96	AFP	Alpha Fetoprotein	Protein Coding	1
97	KRT19	Keratin 19	Protein Coding	1
98	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
99	FOXA1	Forkhead Box A1	Protein Coding	1
100	ONECUT2	One Cut Homeobox 2	Protein Coding	1
101	DLK1	Delta Like Non-Canonical Notch Ligand 1	Protein Coding	1
102	PROX1	Prospero Homeobox 1	Protein Coding	1
103	HNF1B	HNF1 Homeobox B	Protein Coding	1
104	FGF7	Fibroblast Growth Factor 7	Protein Coding	1
105	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
106	ONECUT1	One Cut Homeobox 1	Protein Coding	1
107	NEUROG3	Neurogenin 3	Protein Coding	1
108	NKX2-2	NK2 Homeobox 2	Protein Coding	1
109	NKX6-1	NK6 Homeobox 1	Protein Coding	1
110	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	1
111	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	1
112	IGF1	Insulin Like Growth Factor 1	Protein Coding	1
113	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	1
114	KLRG1	Killer Cell Lectin Like Receptor G1	Protein Coding	1
115	PAX4	Paired Box 4	Protein Coding	1
116	PCSK1	Proprotein Convertase Subtilisin/Kexin Type 1	Protein Coding	1
117	PCSK2	Proprotein Convertase Subtilisin/Kexin Type 2	Protein Coding	1
118	FGF18	Fibroblast Growth Factor 18	Protein Coding	1
119	WNT2	Wnt Family Member 2	Protein Coding	1
120	WNT2B	Wnt Family Member 2B	Protein Coding	1
121	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	1
122	FOXJ1	Forkhead Box J1	Protein Coding	1
123	ALCAM	Activated Leukocyte Cell Adhesion Molecule	Protein Coding	1
124	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
125	LGR5	Leucine Rich Repeat Containing G Protein-Coupled Receptor 5	Protein Coding	1
126	LRIG1	Leucine Rich Repeats And Immunoglobulin Like Domains 1	Protein Coding	1
127	ASCL2	Achaete-Scute Family BHLH Transcription Factor 2	Protein Coding	1
128	BMI1	BMI1 Proto-Oncogene, Polycomb Ring Finger	Protein Coding	1
129	CDX1	Caudal Type Homeobox 1	Protein Coding	1
130	CDX2	Caudal Type Homeobox 2	Protein Coding	1
131	CDX4	Caudal Type Homeobox 4	Protein Coding	1
132	LGR4	Leucine Rich Repeat Containing G Protein-Coupled Receptor 4	Protein Coding	1
133	TERT	Telomerase Reverse Transcriptase	Protein Coding	1

Disorders associated with Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Maturity-onset diabetes of the young	Enrichment	HNF1B, INS, NEUROD1, PAX4, PDX1, PTF1A	7.56
2	Cleft upper lip	Enrichment	GJA1, IRF6, MSX1, TP63	7.36
3	Type 2 diabetes mellitus	Enrichment	HNF1B, IL6, NEUROD1, PAX4, PDX1, SLC2A2	5.51
4	Cleft lip and alveolus	Enrichment	IRF6, MSX1, TP63	5.44
5	Cleft lip/palate	Enrichment	BMP4, IRF6, MSX1, TP63	5.09
6	46,xy partial gonadal dysgenesis	Enrichment	GATA4, OTX2, SOX9, WT1	5.09
7	Macs syndrome	Enrichment	OTX2, PAX6, SHH, SOX2	4.42
8	Permanent neonatal diabetes mellitus	Enrichment	INS, PDX1, STAT3	4.30
9	Hypoplastic left heart syndrome	Enrichment	GJA1, NKX2-5, NOTCH1	4.30
10	Ventricular septal defect	Enrichment	FOXF1, SMARCA4, TBX5	4.13
11	Pancreas, dorsal, agenesis of	Enrichment	PDX1, PTF1A	4.02
12	Cardiomyopathy, dilated, 1ff	Enrichment	KLF5, TNNI3	4.02
13	Bladder exstrophy	Enrichment	ISL1, TP63	4.02
14	Papillary renal cell carcinoma	Enrichment	MET, MITF	4.02
15	Tetralogy of fallot	Enrichment	GATA4, KDR, NKX2-5, NOTCH1	3.95
16	Atrial heart septal defect	Enrichment	NKX2-5, SMARCA4, TBX5	3.84
17	Interatrial communication	Enrichment	NKX2-5, SMARCA4, TBX5	3.84
18	Septooptic dysplasia	Enrichment	OTX2, SHH, SOX2	3.72
19	Osteoporosis, juvenile	Enrichment	DKK1, WNT3A	3.55
20	Heart disease	Enrichment	GATA4, NKX2-5, TBX5	3.51
21	Inherited cancer-predisposing syndrome	Enrichment	BMPR1A, EPCAM, MET, MITF, RUNX1, SMARCA4, WT1	3.50
22	Aniridia 1	Enrichment	PAX6, WT1	3.25
23	Heart, malformation of	Enrichment	GATA4, NODAL, TBX5	3.17
24	Patent foramen ovale	Enrichment	GATA4, NKX2-5, TBX5	3.17
25	Microphthalmia	Enrichment	OTX2, PAX6, SOX2	2.91
26	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	PAX6, WT1	2.86
27	Type 1 diabetes mellitus	Enrichment	IL6, INS	2.86
28	Anterior segment dysgenesis 5	Enrichment	BMP4, PAX6	2.86
29	Waardenburg syndrome, type 2e	Enrichment	KITLG, MITF	2.71
30	Familial isolated restrictive cardiomyopathy	Enrichment	TNNI3, TNNT2	2.71
31	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.59
32	Myocarditis	Enrichment	TNNI3, TNNT2	2.59
33	Combined pituitary hormone deficiency	Enrichment	FOXA2, OTX2	2.59
34	Primary ovarian insufficiency	Enrichment	AFP, KDR, TP63, WT1	2.58
35	Cardiomyopathy, familial hypertrophic, 4	Enrichment	TNNI3, TNNT2	2.48
36	Cystic fibrosis	Enrichment	CFTR, SERPINA1, TGFB1	2.43
37	Peters-plus syndrome	Enrichment	BMP4, PAX6	2.39
38	Left ventricular noncompaction	Enrichment	NKX2-5, TNNI3, TNNT2	2.32
39	Nanophthalmos	Enrichment	OTX2, SOX2	2.31
40	46,xy complete gonadal dysgenesis	Enrichment	SOX9, WT1	2.31
41	Meningioma	Enrichment	PDGFB, TERT	2.23
42	Restrictive cardiomyopathy	Enrichment	TNNI3, TNNT2	2.23
43	Aortic valve disease 1	Enrichment	NKX2-5, NOTCH1	2.16
44	Microphthalmia/coloboma 12	Enrichment	PAX2, PAX6	2.16
45	Neural tube defects	Enrichment	ITGB1, TBXT	2.16
46	Leukemia, acute myeloid	Enrichment	GATA2, RUNX1, TERT	2.16
47	Dilated cardiomyopathy	Enrichment	NKX2-5, TBX5, TNNI3, TNNT2	2.10
48	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4, NOTCH1	2.09
49	Coloboma of macula	Enrichment	PAX2, PAX6	2.04
50	Renal cell carcinoma, nonpapillary	Enrichment	HNF1B, MET	2.04
51	Lynch syndrome	Enrichment	CFTR, EPCAM	2.04
52	Septopreoptic holoprosencephaly	Enrichment	NODAL, SHH	2.04
53	Midline interhemispheric variant of holoprosencephaly	Enrichment	NODAL, SHH	2.04
54	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	2.01
55	Holoprosencephaly 3	Enrichment	SHH	2.01
56	Rapp-hodgkin syndrome	Enrichment	TP63	2.01
57	Cardiomyopathy, familial hypertrophic, 2	Enrichment	TNNT2	2.01
58	Ankyloblepharon-ectodermal defects-cleft lip/palate	Enrichment	TP63	2.01
59	Chiari malformation type i	Enrichment	DKK1	2.01
60	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	2.01
61	Pancreatic agenesis 1	Enrichment	PDX1	2.01
62	Hypoplastic left heart syndrome 1	Enrichment	GJA1	2.01
63	Stapes ankylosis with broad thumbs and toes	Enrichment	NOG	2.01
64	Tarsal-carpal coalition syndrome	Enrichment	NOG	2.01
65	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	2.01
66	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	Enrichment	GSC	2.01
67	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.01
68	Anemia, congenital, nonspherocytic hemolytic, 9	Enrichment	GATA1	2.01
69	Thrombocytopenia, x-linked, with or without dyserythropoietic anemia	Enrichment	GATA1	2.01
70	Split-hand/foot malformation 4	Enrichment	TP63	2.01
71	Maturity-onset diabetes of the young, type 4	Enrichment	PDX1	2.01
72	Thrombocytopenia with beta-thalassemia, x-linked	Enrichment	GATA1	2.01
73	Hypomagnesemia 4, renal	Enrichment	EGF	2.01
74	Cardiomyopathy, dilated, 2a	Enrichment	TNNI3	2.01
75	Diabetes mellitus, ketosis-prone	Enrichment	PAX4	2.01
76	Ankyloblepharon filiforme adnatum and cleft palate	Enrichment	TP63	2.01
77	Deafness, autosomal recessive 39	Enrichment	HGF	2.01
78	Orofacial cleft 6	Enrichment	IRF6	2.01
79	Stargardt disease 4	Enrichment	PROM1	2.01
80	Cardiomyopathy, familial restrictive, 3	Enrichment	TNNT2	2.01
81	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.01
82	Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency	Enrichment	NEUROG3	2.01
83	Holt-oram syndrome	Enrichment	TBX5	2.01
84	Brachydactyly, type b2	Enrichment	NOG	2.01
85	Oculodentodigital dysplasia	Enrichment	GJA1	2.01
86	Cardiomyopathy, familial hypertrophic, 7	Enrichment	TNNI3	2.01
87	Popliteal pterygium syndrome	Enrichment	IRF6	2.01
88	Maturity-onset diabetes of the young, type 6	Enrichment	NEUROD1	2.01
89	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.01
90	Heterochromia iridis	Enrichment	MITF	2.01
91	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	2.01
92	Microphthalmia/coloboma 5	Enrichment	SHH	2.01
93	Adult syndrome	Enrichment	TP63	2.01
94	Tietz albinism-deafness syndrome	Enrichment	MITF	2.01
95	Prostate cancer, hereditary, 11	Enrichment	HNF1B	2.01
96	Pancreatic and cerebellar agenesis	Enrichment	PTF1A	2.01
97	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.01
98	Symphalangism, proximal, 1a	Enrichment	NOG	2.01
99	Sacral agenesis with vertebral anomalies	Enrichment	TBXT	2.01
100	Macular dystrophy, retinal, 2	Enrichment	PROM1	2.01
101	Multiple synostoses syndrome 1	Enrichment	NOG	2.01
102	Vesicoureteral reflux 3	Enrichment	SOX17	2.01
103	Whim syndrome 1	Enrichment	CXCR4	2.01
104	Hyperthyroxinemia, familial dysalbuminemic	Enrichment	ALB	2.01
105	Bone mineral density quantitative trait locus 17	Enrichment	LGR4	2.01
106	Atrioventricular septal defect 4	Enrichment	GATA4	2.01
107	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	2.01
108	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	2.01
109	Alpha-fetoprotein, hereditary persistence of	Enrichment	AFP	2.01
110	46,xy sex reversal 10	Enrichment	SOX9	2.01
111	Intellectual developmental disorder, x-linked 110	Enrichment	FGF13	2.01
112	Agammaglobulinemia 8b, autosomal recessive	Enrichment	TCF3	2.01
113	Amegakaryocytic thrombocytopenia, congenital, 2	Enrichment	THPO	2.01
114	Heterotaxy, visceral, 5, autosomal	Enrichment	NODAL	2.01
115	46,xx sex reversal 2	Enrichment	SOX9	2.01
116	Anemia, x-linked, with or without neutropenia and/or platelet abnormalities	Enrichment	GATA1	2.01
117	Lymphedema, primary, with myelodysplasia	Enrichment	GATA2	2.01
118	Osteofibrous dysplasia	Enrichment	MET	2.01
119	Diarrhea 9	Enrichment	WNT2B	2.01
120	Microphthalmia, syndromic 6	Enrichment	BMP4	2.01
121	Developmental and epileptic encephalopathy 90	Enrichment	FGF13	2.01
122	Orofacial cleft 11	Enrichment	BMP4	2.01
123	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.01
124	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.01
125	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	Enrichment	TP63	2.01
126	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	2.01
127	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Enrichment	MITF	2.01
128	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	2.01
129	Microphthalmia, syndromic 5	Enrichment	OTX2	2.01
130	Limb-mammary syndrome	Enrichment	TP63	2.01
131	Deafness, autosomal recessive 97	Enrichment	MET	2.01
132	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.01
133	Ovary adenocarcinoma	Enrichment	INHBA	2.01
134	Agammaglobulinemia 8a, autosomal dominant	Enrichment	TCF3	2.01
135	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	2.01
136	Autism 9	Enrichment	MET	2.01
137	Meacham syndrome	Enrichment	WT1	2.01
138	Atrial septal defect 2	Enrichment	GATA4	2.01
139	Ventricular septal defect 3	Enrichment	NKX2-5	2.01
140	Immunodeficiency 21	Enrichment	GATA2	2.01
141	Premature ovarian failure 21	Enrichment	TP63	2.01
142	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.01
143	Pituitary hormone deficiency, combined, 6	Enrichment	OTX2	2.01
144	Hereditary thrombocytosis with transverse limb defect	Enrichment	THPO	2.01
145	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	2.01
146	Lynch syndrome 8	Enrichment	EPCAM	2.01
147	Alpha-fetoprotein deficiency	Enrichment	AFP	2.01
148	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.01
149	Alpha-1-antitrypsin deficiency	Enrichment	SERPINA1	2.01
150	Retinitis pigmentosa 41	Enrichment	PROM1	2.01
151	Maturity-onset diabetes of the young, type 9	Enrichment	PAX4	2.01
152	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	2.01
153	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.01
154	Smarca4-deficient sarcoma of thorax	Enrichment	SMARCA4	2.01
155	Ovarian small cell carcinoma	Enrichment	SMARCA4	2.01
156	Orofacial cleft 8	Enrichment	TP63	2.01
157	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.01
158	Irf6-related disorders	Enrichment	IRF6	2.01
159	Autosomal dominant popliteal pterygium syndrome	Enrichment	IRF6	2.01
160	8p23.1 microdeletion syndrome	Enrichment	GATA4	2.01
161	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	2.01
162	Congenital analbuminemia	Enrichment	ALB	2.01
163	Deafness-lymphedema-leukemia syndrome	Enrichment	GATA2	2.01
164	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.01
165	Autosomal recessive dyskeratosis congenita 4	Enrichment	TERT	2.01
166	Tufted angioma of skin	Enrichment	KDR	2.01
167	Deafness, autosomal dominant 69	Enrichment	KITLG	2.01
168	Acute megakaryoblastic leukemia in children with down syndrome	Enrichment	GATA1	2.01
169	Analbuminemia	Enrichment	ALB	2.01
170	Thrombocytopenia 9	Enrichment	THPO	2.01
171	Arthrogryposis, distal, type 11	Enrichment	MET	2.01
172	Immunodeficiency 125	Enrichment	FLT3LG	2.01
173	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	2.01
174	Thrombocytopenia with congenital dyserythropoietic anemia	Enrichment	GATA1	2.01
175	Pulmonary hypertension, primary, 7	Enrichment	SOX17	2.01
176	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	2.01
177	Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation	Enrichment	SERPINA1	2.01
178	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	Enrichment	TBXT	2.01
179	Sirenomelia	Enrichment	CDX2	2.01
180	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.01
181	Tp63-related disorders	Enrichment	TP63	2.01
182	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.01
183	Aortic arch interruption	Enrichment	NKX2-5	2.01
184	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	2.01
185	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.01
186	Atrial heart septal defect 7	Enrichment	NKX2-5	2.01
187	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	2.01
188	Familial progressive hyperpigmentation	Enrichment	KITLG	2.01
189	Anorectal malformation	Enrichment	CDX2	2.01
190	Pax2-related disorder	Enrichment	PAX2	2.01
191	Medullary sponge kidney	Enrichment	HNF1B	2.01
192	Mef2c-related disorder	Enrichment	MEF2C	2.01
193	Renal dysplasia, bilateral	Enrichment	HNF1B	2.01
194	Premature aging	Enrichment	VIM	2.01
195	Unilateral multicystic dysplastic kidney	Enrichment	HNF1B	2.01
196	Renal dysplasia, unilateral	Enrichment	HNF1B	2.01
197	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.01
198	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.01
199	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	2.01
200	Autosomal dominant spondylocostal dysostosis	Enrichment	TBX6	2.01
201	Interstitial lung disease specific to childhood	Enrichment	FGF10	2.01
202	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Enrichment	EOMES	2.01
203	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.01
204	Atresia of urethra	Enrichment	FOXF1	2.01
205	Wolff-parkinson-white syndrome	Enrichment	NODAL, TNNT2	1.98
206	Microform holoprosencephaly	Enrichment	NODAL, SHH	1.98
207	Lobar holoprosencephaly	Enrichment	NODAL, SHH	1.98
208	Thrombocytopenia	Enrichment	GATA1, RUNX1, THPO	1.94
209	Melanoma, cutaneous malignant 1	Enrichment	MITF, TERT	1.93
210	Cleft palate, isolated	Enrichment	IRF6, SMARCA4	1.93
211	Alobar holoprosencephaly	Enrichment	NODAL, SHH	1.93
212	Semilobar holoprosencephaly	Enrichment	NODAL, SHH	1.88
213	Focal segmental glomerulosclerosis	Enrichment	PAX2, WT1	1.79
214	Ovarian cancer	Enrichment	BMPR1A, HNF1B, MET, WT1	1.76
215	Hepatocellular carcinoma	Enrichment	MET, TERT	1.71
216	Tooth agenesis	Enrichment	IRF6, MSX1	1.71
217	Keratitis, hereditary	Enrichment	PAX6	1.71
218	Tubulointerstitial kidney disease, autosomal dominant 1	Enrichment	HNF1B	1.71
219	Myeloproliferative syndrome, transient	Enrichment	GATA1	1.71
220	Papillorenal syndrome	Enrichment	PAX2	1.71
221	Burkitt lymphoma	Enrichment	MYC	1.71
222	Renal cysts and diabetes syndrome	Enrichment	HNF1B	1.71
223	Foveal hypoplasia 1	Enrichment	PAX6	1.71
224	Congenital anomalies of kidney and urinary tract 2	Enrichment	HNF1B	1.71
225	Cardiomyopathy, familial restrictive, 1	Enrichment	TNNI3	1.71
226	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.71
227	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1	Enrichment	TP63	1.71
228	Campomelic dysplasia	Enrichment	SOX9	1.71
229	Otodental dysplasia	Enrichment	FGF3	1.71
230	Camurati-engelmann disease 1	Enrichment	TGFB1	1.71
231	Fanconi-bickel syndrome	Enrichment	SLC2A2	1.71
232	Storage pool platelet disease	Enrichment	RUNX1	1.71
233	Thumb deformity	Enrichment	TBX5	1.71
234	Denys-drash syndrome	Enrichment	WT1	1.71
235	Agnathia-otocephaly complex	Enrichment	OTX2	1.71
236	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	1.71
237	Porphyria, congenital erythropoietic	Enrichment	GATA1	1.71
238	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.71
239	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.71
240	Nephrotic syndrome, type 4	Enrichment	WT1	1.71
241	Rhabdoid tumor predisposition syndrome 2	Enrichment	SMARCA4	1.71
242	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	Enrichment	FGF3	1.71
243	Solitary median maxillary central incisor	Enrichment	SHH	1.71
244	Optic nerve hypoplasia, bilateral	Enrichment	PAX6	1.71
245	Orofacial cleft 5	Enrichment	MSX1	1.71
246	Kallikrein, decreased urinary activity of	Enrichment	PTF1A	1.71
247	Frasier syndrome	Enrichment	WT1	1.71
248	Adams-oliver syndrome 5	Enrichment	NOTCH1	1.71
249	Hallermann-streiff syndrome	Enrichment	GJA1	1.71
250	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	Enrichment	TERT	1.71
251	Cardiomyopathy, familial hypertrophic, 25	Enrichment	TNNI3	1.71
252	Angioma, tufted	Enrichment	KDR	1.71
253	Maturity-onset diabetes of the young, type 10	Enrichment	INS	1.71
254	Cardiomyopathy, dilated, 1dd	Enrichment	TNNT2	1.71
255	Diarrhea 5, with tufting enteropathy, congenital	Enrichment	EPCAM	1.71
256	Witkop syndrome	Enrichment	MSX1	1.71
257	Syndactyly, type iii	Enrichment	GJA1	1.71
258	Syndactyly, type v	Enrichment	GJA1	1.71
259	Cardiomyopathy, dilated, 1d	Enrichment	TNNT2	1.71
260	Waardenburg syndrome, type 2f	Enrichment	KITLG	1.71
261	Hyperproinsulinemia	Enrichment	INS	1.71
262	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.71
263	Infantile myofibromatosis	Enrichment	PDGFRB	1.71
264	Hyperuricemic nephropathy, familial juvenile, 3	Enrichment	HNF1B	1.71
265	Melanoma, cutaneous malignant 8	Enrichment	MITF	1.71
266	Childhood hepatocellular carcinoma	Enrichment	MET	1.71
267	Rhabdoid tumor predisposition syndrome	Enrichment	SMARCA4	1.71
268	Craniometaphyseal dysplasia	Enrichment	GJA1	1.71
269	Delayed puberty, self-limited	Enrichment	LGR4	1.71
270	Acute basophilic leukemia	Enrichment	GATA1	1.71
271	Focal segmental glomerulosclerosis 7	Enrichment	PAX2	1.71
272	Pyloric stenosis, infantile hypertrophic, 5	Enrichment	FOXF1	1.71
273	Cataract 30	Enrichment	VIM	1.71
274	Central precocious puberty	Enrichment	DLK1	1.71
275	Pancreatic agenesis 2	Enrichment	PTF1A	1.71
276	Camurati-engelmann disease	Enrichment	TGFB1	1.71
277	46,xy sex reversal 3	Enrichment	GATA4	1.71
278	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	1.71
279	Ciliary dyskinesia, primary, 43	Enrichment	FOXJ1	1.71
280	Melanoma, cutaneous malignant 9	Enrichment	TERT	1.71
281	Otosclerosis 12	Enrichment	SMARCA4	1.71
282	Coffin-siris syndrome 4	Enrichment	SMARCA4	1.71
283	Aortic valve disease 2	Enrichment	TBX5	1.71
284	Proximal symphalangism	Enrichment	NOG	1.71
285	Idiopathic interstitial pneumonia	Enrichment	TERT	1.71
286	Congenital amegakaryocytic thrombocytopenia	Enrichment	THPO	1.71
287	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	1.71
288	Familial isolated congenital asplenia	Enrichment	NKX2-5	1.71
289	Fissured tongue	Enrichment	TP63	1.71
290	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	TCF3	1.71
291	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.71
292	Deletion 5q35	Enrichment	NKX2-5	1.71
293	Van der woude syndrome	Enrichment	IRF6	1.71
294	Renal hypoplasia, bilateral	Enrichment	PAX2	1.71
295	B-lymphoblastic leukemia/lymphoma with t(17;19)	Enrichment	TCF3	1.71
296	Juvenile polyposis of infancy	Enrichment	BMPR1A	1.71
297	Isolated radial hemimelia	Enrichment	SHH	1.71
298	Tafro syndrome	Enrichment	RUNX1	1.71
299	Oculootodental syndrome	Enrichment	FGF3	1.71
300	Desmoplastic small round cell tumor	Enrichment	WT1	1.71
301	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	FOXF1	1.71
302	Campomelic dysplasia and related disorders	Enrichment	SOX9	1.71
303	Cardiomyopathy, familial hypertrophic, 1	Enrichment	TNNI3, TNNT2	1.64
304	Familial atrial fibrillation	Enrichment	GATA4, NKX2-5	1.64
305	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.54
306	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10	1.54
307	Type 1 diabetes mellitus 2	Enrichment	INS	1.54
308	Van der woude syndrome 1	Enrichment	IRF6	1.54
309	Mesothelioma, malignant	Enrichment	WT1	1.54
310	Spondylocostal dysostosis 5	Enrichment	TBX6	1.54
311	Waardenburg syndrome, type 2a	Enrichment	MITF	1.54
312	Juvenile polyposis syndrome	Enrichment	BMPR1A	1.54
313	Thrombocythemia 1	Enrichment	THPO	1.54
314	Gillespie syndrome	Enrichment	PAX6	1.54
315	Syndactyly, type iv	Enrichment	SHH	1.54
316	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	HNF1B	1.54
317	46,xx sex reversal 1	Enrichment	SOX9	1.54
318	Platelet disorder, familial, with associated myeloid malignancy	Enrichment	RUNX1	1.54
319	Intellectual developmental disorder, x-linked 109	Enrichment	SERPINA1	1.54
320	Autoimmune disease 1	Enrichment	FOXD3	1.54
321	Nuchal bleb, familial	Enrichment	CFTR	1.54
322	Alveolar capillary dysplasia with misalignment of pulmonary veins	Enrichment	FOXF1	1.54
323	Body mass index quantitative trait locus 12	Enrichment	PCSK1	1.54
324	Cone-rod dystrophy 12	Enrichment	PROM1	1.54
325	Dyskeratosis congenita, autosomal dominant 6	Enrichment	THPO	1.54
326	Chromosome 17q12 deletion syndrome	Enrichment	HNF1B	1.54
327	Proprotein convertase 1/3 deficiency	Enrichment	PCSK1	1.54
328	Breast implant-associated anaplastic large cell lymphoma	Enrichment	STAT3	1.54
329	Hyper ige syndrome	Enrichment	STAT3	1.54
330	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.54
331	Precocious puberty, central, 2	Enrichment	DLK1	1.54
332	Interstitial lung disease	Enrichment	TERT	1.54
333	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	1.54
334	Chromophobe renal cell carcinoma	Enrichment	HNF1B	1.54
335	Macrocytic anemia	Enrichment	TERT	1.54
336	Familial vesicoureteral reflux	Enrichment	SOX17	1.54
337	Butterfly-shaped pigment dystrophy	Enrichment	OTX2	1.54
338	Atypical juvenile parkinsonism	Enrichment	PODXL	1.54
339	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1	Enrichment	RUNX1	1.54
340	Renal cell carcinoma	Enrichment	MET	1.54
341	Keratoacanthoma	Enrichment	NOTCH1	1.54
342	Long qt syndrome 1	Enrichment	SLC2A2, TBX5	1.46
343	Kaposi sarcoma	Enrichment	IL6	1.41
344	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	ALB	1.41
345	Polydactyly, preaxial ii	Enrichment	SHH	1.41
346	Robinow syndrome, autosomal dominant 1	Enrichment	WNT5A	1.41
347	Chordoma	Enrichment	TBXT	1.41
348	Down syndrome	Enrichment	GATA1	1.41
349	Microphthalmia, syndromic 3	Enrichment	SOX2	1.41
350	Schizencephaly	Enrichment	SHH	1.41
351	Kagami-ogata syndrome	Enrichment	DLK1	1.41
352	Temple syndrome	Enrichment	DLK1	1.41
353	Multiple synostoses syndrome	Enrichment	NOG	1.41
354	Neonatal diabetes mellitus	Enrichment	INS	1.41
355	Lung sarcomatoid carcinoma	Enrichment	TERT	1.41
356	Blood platelet disease	Enrichment	RUNX1	1.41
357	Idiopathic bronchiectasis	Enrichment	CFTR	1.41
358	Autosomal dominant robinow syndrome	Enrichment	WNT5A	1.41
359	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5	1.41
360	Eyelid coloboma	Enrichment	PAX6	1.41
361	Vacterl association	Enrichment	FOXF1	1.41
362	Mitral valve insufficiency	Enrichment	TBX5	1.41
363	Genetic central precocious puberty in male	Enrichment	DLK1	1.41
364	Transposition of the great arteries	Enrichment	GATA4	1.41
365	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.41
366	Haddad syndrome	Enrichment	ASCL1	1.41
367	Clear cell papillary renal cell carcinoma	Enrichment	MITF	1.41
368	Lens coloboma	Enrichment	PAX6	1.41
369	Connective tissue disease	Enrichment	NOTCH1, SOX9	1.41
370	Familial hypertrophic cardiomyopathy	Enrichment	TNNI3, TNNT2	1.38
371	Cakut	Enrichment	HNF1B, PAX2	1.36
372	Genetic steroid-resistant nephrotic syndrome	Enrichment	PAX2, WT1	1.36
373	Vater/vacterl association	Enrichment	FOXF1	1.32
374	Robinow syndrome, autosomal recessive 1	Enrichment	WNT5A	1.32
375	Parkinson disease 2, autosomal recessive juvenile	Enrichment	PODXL	1.32
376	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.32
377	Atrioventricular septal defect	Enrichment	TBX5	1.32
378	Insulin-like growth factor i	Enrichment	IGF1	1.32
379	Leber congenital amaurosis 10	Enrichment	WT1	1.32
380	Ventricular septal defect 1	Enrichment	GATA4	1.32
381	Congenital heart defects, multiple types, 4	Enrichment	GATA4	1.32
382	Histiocytoid hemangioma	Enrichment	VIM	1.32
383	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	SOX9	1.32
384	Parkin type of early-onset parkinson disease	Enrichment	PODXL	1.32
385	Acute megakaryocytic leukemia	Enrichment	GATA1	1.32
386	Aniridia	Enrichment	PAX6	1.32
387	Coloboma of choroid and retina	Enrichment	PAX6	1.32
388	Aggressive systemic mastocytosis	Enrichment	RUNX1	1.32
389	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	RUNX1	1.32
390	Persistent truncus arteriosus	Enrichment	NKX2-5	1.32
391	Primary hypereosinophilic syndrome	Enrichment	PDGFRB	1.32
392	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A	1.32
393	Idiopathic aplastic anemia	Enrichment	TERT	1.32
394	Colorectal cancer	Enrichment	EPCAM, MET, SOX9	1.27
395	Cerebral palsy	Enrichment	PDGFRB, SMARCA4	1.25
396	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	GJA1, HGF, MET	1.24
397	Atrial septal defect 1	Enrichment	TBX5	1.24
398	Dyskeratosis congenita, autosomal dominant 1	Enrichment	TERT	1.24
399	Coloboma of optic nerve	Enrichment	PAX6	1.24
400	Conotruncal heart malformations	Enrichment	NKX2-5	1.24
401	Pierre robin syndrome	Enrichment	SOX9	1.24
402	Testicular germ cell tumor	Enrichment	KITLG	1.24
403	Waardenburg syndrome, type 4a	Enrichment	MITF	1.24
404	Wilms tumor 5	Enrichment	WT1	1.24
405	Hemangioma, capillary infantile	Enrichment	KDR	1.24
406	Anxiety	Enrichment	OTX2	1.24
407	Congenital anomalies of kidney and urinary tract 1	Enrichment	PAX2	1.24
408	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.24
409	Autosomal recessive robinow syndrome	Enrichment	WNT5A	1.24
410	Renal hypoplasia	Enrichment	PAX2	1.24
411	Pancytopenia	Enrichment	RUNX1	1.24
412	Diarrhea	Enrichment	WNT2B	1.24
413	Pulmonary fibrosis	Enrichment	TERT	1.24
414	Adrenocortical carcinoma	Enrichment	TERT	1.24
415	Double outlet right ventricle	Enrichment	NKX2-5	1.24
416	Hoyeraal-hreidarsson syndrome	Enrichment	TERT	1.24
417	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.24
418	Spondylocostal dysostosis, autosomal recessive	Enrichment	TBX6	1.24
419	Waardenburg syndrome	Enrichment	MITF	1.24
420	Kidney clear cell sarcoma	Enrichment	TERT	1.24
421	Hypertrophic cardiomyopathy	Enrichment	TNNI3, TNNT2	1.18
422	Waardenburg syndrome, type 1	Enrichment	MITF	1.18
423	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5	1.18
424	Leukemia, chronic myeloid	Enrichment	RUNX1	1.18
425	Renal cell carcinoma, papillary, 1	Enrichment	MET	1.18
426	Dyskeratosis congenita, autosomal dominant 2	Enrichment	TERT	1.18
427	Adams-oliver syndrome	Enrichment	NOTCH1	1.18
428	Essential thrombocythemia	Enrichment	THPO	1.18
429	Arthrogryposis, distal, type 1a	Enrichment	MET	1.12
430	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1	1.12
431	Leber congenital amaurosis 1	Enrichment	PROM1	1.12
432	Neuroblastoma	Enrichment	SMARCA4	1.12
433	Isolated split hand-split foot malformation	Enrichment	TP63	1.12
434	Difference of sex development	Enrichment	WT1	1.12
435	Tooth agenesis, selective, 1	Enrichment	MSX1	1.07
436	Orofacial cleft 1	Enrichment	FGF10	1.07
437	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	1.07
438	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	1.07
439	Inflammatory bowel disease 1	Enrichment	IL6	1.07
440	Leukemia, acute lymphoblastic 3	Enrichment	WT1	1.07
441	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	RUNX1	1.07
442	Adult hepatocellular carcinoma	Enrichment	EGF	1.07
443	Cystic kidney disease	Enrichment	PAX2	1.07
444	Colonic benign neoplasm	Enrichment	EPCAM	1.07
445	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	KITLG, MITF	1.04
446	Cat eye syndrome	Enrichment	PAX6	1.03
447	Cataract 30, multiple types	Enrichment	VIM	1.03
448	Lynch syndrome 1	Enrichment	EPCAM	1.03
449	Aplastic anemia	Enrichment	TERT	1.03
450	Stickler syndrome	Enrichment	BMP4	1.03
451	Melanoma	Enrichment	MITF	1.03
452	Autosomal non-syndromic agammaglobulinemia	Enrichment	TCF3	1.03
453	Familial isolated dilated cardiomyopathy	Enrichment	TNNI3, TNNT2	1.02
454	Meningioma, familial	Enrichment	PDGFB	0.99
455	Myelodysplastic syndrome	Enrichment	GATA2	0.99
456	Diabetes mellitus	Enrichment	INS	0.99
457	Heritable pulmonary arterial hypertension	Enrichment	SOX17	0.99
458	Familial colorectal cancer type x	Enrichment	BMPR1A	0.99
459	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR, GATA4	0.98
460	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	0.95
461	Early-onset parkinson's disease	Enrichment	PODXL	0.95
462	Congenital long qt syndrome	Enrichment	SLC2A2	0.95
463	Hypercholesterolemia, familial, 1	Enrichment	SMARCA4	0.92
464	Pulmonary hypertension, primary, 1	Enrichment	SOX17	0.92
465	Pulmonary disease, chronic obstructive	Enrichment	SERPINA1	0.92
466	Acute promyelocytic leukemia	Enrichment	STAT3	0.92
467	Premature menopause	Enrichment	TP63	0.92
468	Protein-deficiency anemia	Enrichment	GATA1	0.92
469	Lung cancer susceptibility 3	Enrichment	FGF10	0.89
470	Generalized epilepsy with febrile seizures plus	Enrichment	FGF13	0.89
471	Hereditary chronic pancreatitis	Enrichment	CFTR	0.89
472	Isolated macular dystrophy	Enrichment	PROM1	0.89
473	Coffin-siris syndrome 1	Enrichment	SMARCA4	0.86
474	Wilms tumor 1	Enrichment	WT1	0.86
475	Hydrocephalus	Enrichment	PDGFRB	0.86
476	Anterior segment dysgenesis	Enrichment	PAX6	0.86
477	Familial hypercholesterolemia	Enrichment	SMARCA4	0.86
478	Kidney disease	Enrichment	WT1	0.86
479	Male infertility with spermatogenesis disorder	Enrichment	TP63	0.86
480	Pancreatitis, hereditary	Enrichment	CFTR	0.81
481	Interstitial lung disease 2	Enrichment	TERT	0.81
482	Dandy-walker syndrome	Enrichment	PDGFRB	0.81
483	Sudden infant death syndrome	Enrichment	TNNI3	0.81
484	Arteriovenous malformations of the brain	Enrichment	IL6	0.77
485	Diffuse large b-cell lymphoma	Enrichment	STAT3	0.77
486	Dyskeratosis congenita	Enrichment	TERT	0.77
487	Cardiomyopathy, dilated, 1a	Enrichment	TNNI3	0.73
488	Hepatoblastoma	Enrichment	TERT	0.73
489	Visceral heterotaxy	Enrichment	NODAL	0.71
490	Diamond-blackfan anemia 1	Enrichment	GATA1	0.69
491	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	0.69
492	Ear malformation	Enrichment	MITF	0.68
493	Scoliosis	Enrichment	TBX6	0.68
494	Leber plus disease	Enrichment	OTX2, PROM1	0.62
495	Bladder cancer	Enrichment	TERT	0.60
496	Prostate cancer	Enrichment	HNF1B	0.60
497	Differentiated thyroid carcinoma	Enrichment	TERT	0.60
498	Stargardt disease 1	Enrichment	PROM1	0.59
499	Visceral heterotaxy 5	Enrichment	NODAL	0.58
500	Lung cancer	Enrichment	MET	0.57
501	Usher syndrome	Enrichment	PROM1	0.56
502	Male infertility	Enrichment	CFTR	0.55
503	Diamond-blackfan anemia	Enrichment	GATA1	0.52
504	Non-syndromic genetic deafness	Enrichment	MITF	0.52
505	Nonsyndromic hearing loss	Enrichment	MITF	0.47
506	Gastric cancer	Enrichment	EPCAM	0.46
507	Nephrotic syndrome	Enrichment	PAX2	0.46
508	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1	0.45
509	Hereditary breast carcinoma	Enrichment	EPCAM	0.45
510	Sensorineural hearing loss	Enrichment	HGF	0.42
511	Body mass index quantitative trait locus 11	Enrichment	PCSK1	0.41
512	Hypertelorism	Enrichment	PAX6	0.40
513	Hereditary breast ovarian cancer syndrome	Enrichment	MITF	0.38
514	Myeloma, multiple	Enrichment	TCF3	0.37
515	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	MEF2C	0.36
516	Cone-rod dystrophy 2	Enrichment	PROM1	0.31
517	Autism	Enrichment	SHH	0.29
518	Breast cancer	Enrichment	EPCAM	0.28
519	Primary ciliary dyskinesia	Enrichment	FOXJ1	0.28
520	Rare genetic deafness	Enrichment	MITF	0.27
521	Hereditary retinal dystrophy	Enrichment	NEUROD1, PAX2, PROM1	0.26
522	Fundus dystrophy	Enrichment	NEUROD1, PAX2, PROM1	0.26
523	Autism spectrum disorder	Enrichment	MEF2C	0.18
524	Retinitis pigmentosa	Enrichment	PROM1	0.06

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

Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

Pathway Network for Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

Member Pathways for Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

Pathways in the Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers SuperPath

Associated Genes for Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

Associated Disorders for Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

Disorders associated with Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers SuperPath

STRING Interaction Network for Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers

Sources for Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers