Developmental Cell Lineages of the Exocrine Pancreas

Pathway network for the Developmental Cell Lineages of the Exocrine Pancreas SuperPath

Sources:

Reactome

Pathways in the Developmental Cell Lineages of the Exocrine Pancreas SuperPath

#	Name	Source	Genes
1	Developmental Cell Lineages of the Exocrine Pancreas	Reactome	AMY2A ANXA1 ANXA2 ANXA3 AQP1 AQP8 BHLHA15 CA2 CD74 CEL CELA2A CELA3B CER1 CFTR CLDN10 COL11A1 COL11A2 COL1A1 COL1A2 COL24A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL5A3 CPA1 CPA2 CPB1 CTRC CTRL CXCR4 EGF ERICH5 FGF10 FGF2 FGF4 FGF7 FN1 FOXA2 GATA4 GATA6 GNMT GP2 HHEX HNF1B KLK1 KRT17 KRT19 KRT23 KRT7 LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 NKX6-1 ONECUT1 PDIA2 PDX1 PLA2G1B PNLIP PNLIPRP2 PROM1 PRSS1 PTF1A REG1A RNASE1 SERPINA4 SHH SLC4A4 SOX17 SOX9 SPINK1 SYCN TFPI2 VTN YAP1 (see all 84) (see less)
2	Developmental Cell Lineages	Reactome	ABCG2 ACTA2 ALDH1A1 ALDH1A3 AMY2A ANXA1 ANXA2 ANXA3 AQP1 AQP3 AQP8 AREG BHLHA15 CA2 CALML5 CASP14 CD44 CD74 CEL CELA2A CELA3B CER1 CFTR CLDN10 CNN1 COL11A1 COL11A2 COL1A1 COL1A2 COL24A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL5A3 CPA1 CPA2 CPB1 CSPG4 CTRC CTRL CXCR4 DLL1 DLX5 DMKN EGF EGFR EPCAM ERBB2 ERICH5 FABP5 FGF10 FGF2 FGF4 FGF7 FLG FN1 FOXA2 GATA3 GATA4 GATA6 GJB3 GNMT GP2 HHEX HNF1B HOPX ITGA6 ITGB1 ITGB4 IVL KLK1 KLK5 KLK7 KPRP KRT1 KRT10 KRT14 KRT15 KRT17 KRT19 KRT23 KRT24 KRT5 KRT7 KRT78 KRTDAP LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 LGALS7 LGALS7B LORICRIN LRIG1 MME MYH11 NKX6-1 NUMB ONECUT1 PDIA2 PDX1 PLA2G1B PNLIP PNLIPRP2 PROM1 PRSS1 PRSS3 PTF1A REG1A RNASE1 SBSN SERPINA4 SHH SLC4A4 SOX17 SOX9 SPINK1 SPINK5 SPRR2A SYCN TFAP2A TFAP2C TFPI2 TFRC TGFA VIM VTN YAP1 (see all 137) (see less)
3	Developmental Lineage of Pancreatic Ductal Cells	Reactome	ANXA1 ANXA2 ANXA3 AQP1 CA2 CD74 CFTR CLDN10 COL11A1 COL11A2 COL1A1 COL1A2 COL24A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL5A3 ERICH5 FN1 FOXA2 GATA4 HNF1B KRT17 KRT19 KRT23 KRT7 LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 NKX6-1 ONECUT1 PDX1 PROM1 SLC4A4 SOX9 TFPI2 VTN YAP1 (see all 48) (see less)
4	Developmental Lineage of Pancreatic Acinar Cells	Reactome	AMY2A AQP8 BHLHA15 CEL CELA2A CELA3B CPA1 CPA2 CPB1 CTRC CTRL FOXA2 GATA4 GNMT GP2 HNF1B KLK1 NKX6-1 ONECUT1 PDIA2 PDX1 PLA2G1B PNLIP PNLIPRP2 PRSS1 PTF1A REG1A RNASE1 SERPINA4 SOX9 SPINK1 SYCN (see all 32) (see less)
5	Developmental Lineage of Multipotent Pancreatic Progenitor Cells	Reactome	CER1 CXCR4 EGF FGF10 FGF2 FGF4 FGF7 FOXA2 GATA4 GATA6 HHEX HNF1B NKX6-1 ONECUT1 PDX1 SHH SOX17 SOX9 (see all 18) (see less)

Gene overlap in member pathways for Developmental Cell Lineages of the Exocrine Pancreas SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	GATA4	GATA Binding Protein 4	Protein Coding	5
2	FOXA2	Forkhead Box A2	Protein Coding	5
3	ONECUT1	One Cut Homeobox 1	Protein Coding	5
4	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	5
5	NKX6-1	NK6 Homeobox 1	Protein Coding	5
6	SOX9	SRY-Box Transcription Factor 9	Protein Coding	5
7	HNF1B	HNF1 Homeobox B	Protein Coding	5
8	LAMC3	Laminin Subunit Gamma 3	Protein Coding	3
9	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	3
10	CEL	Carboxyl Ester Lipase	Protein Coding	3
11	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	3
12	CTRC	Chymotrypsin C	Protein Coding	3
13	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	3
14	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	3
15	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	3
16	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	3
17	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	3
18	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	3
19	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	3
20	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	3
21	CPA1	Carboxypeptidase A1	Protein Coding	3
22	CPA2	Carboxypeptidase A2	Protein Coding	3
23	CPB1	Carboxypeptidase B1	Protein Coding	3
24	CTRL	Chymotrypsin Like	Protein Coding	3
25	BHLHA15	Basic Helix-Loop-Helix Family Member A15	Protein Coding	3
26	EGF	Epidermal Growth Factor	Protein Coding	3
27	ERICH5	Glutamate Rich 5	Protein Coding	3
28	FGF2	Fibroblast Growth Factor 2	Protein Coding	3
29	FGF4	Fibroblast Growth Factor 4	Protein Coding	3
30	FGF7	Fibroblast Growth Factor 7	Protein Coding	3
31	FGF10	Fibroblast Growth Factor 10	Protein Coding	3
32	FN1	Fibronectin 1	Protein Coding	3
33	CELA3B	Chymotrypsin Like Elastase 3B	Protein Coding	3
34	COL24A1	Collagen Type XXIV Alpha 1 Chain	Protein Coding	3
35	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	3
36	KRT23	Keratin 23	Protein Coding	3
37	GATA6	GATA Binding Protein 6	Protein Coding	3
38	GNMT	Glycine N-Methyltransferase	Protein Coding	3
39	AMY2A	Amylase Alpha 2A	Protein Coding	3
40	GP2	Glycoprotein 2	Protein Coding	3
41	LAMA1	Laminin Subunit Alpha 1	Protein Coding	3
42	ANXA1	Annexin A1	Protein Coding	3
43	ANXA2	Annexin A2	Protein Coding	3
44	ANXA3	Annexin A3	Protein Coding	3
45	HHEX	Hematopoietically Expressed Homeobox	Protein Coding	3
46	SYCN	Syncollin	Protein Coding	3
47	AQP8	Aquaporin 8	Protein Coding	3
48	AQP1	Aquaporin 1 (Colton Blood Group)	Protein Coding	3
49	KLK1	Kallikrein 1	Protein Coding	3
50	KRT7	Keratin 7	Protein Coding	3
51	KRT17	Keratin 17	Protein Coding	3
52	KRT19	Keratin 19	Protein Coding	3
53	LAMA2	Laminin Subunit Alpha 2	Protein Coding	3
54	LAMA3	Laminin Subunit Alpha 3	Protein Coding	3
55	LAMA4	Laminin Subunit Alpha 4	Protein Coding	3
56	LAMA5	Laminin Subunit Alpha 5	Protein Coding	3
57	LAMB1	Laminin Subunit Beta 1	Protein Coding	3
58	LAMB2	Laminin Subunit Beta 2	Protein Coding	3
59	LAMB3	Laminin Subunit Beta 3	Protein Coding	3
60	LAMC1	Laminin Subunit Gamma 1	Protein Coding	3
61	LAMC2	Laminin Subunit Gamma 2	Protein Coding	3
62	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	3
63	SERPINA4	Serpin Family A Member 4	Protein Coding	3
64	PLA2G1B	Phospholipase A2 Group IB	Protein Coding	3
65	PNLIP	Pancreatic Lipase	Protein Coding	3
66	PNLIPRP2	Pancreatic Lipase Related Protein 2 (Gene/Pseudogene)	Protein Coding	3
67	PRSS1	Serine Protease 1	Protein Coding	3
68	REG1A	Regenerating Family Member 1 Alpha	Protein Coding	3
69	RNASE1	Ribonuclease A Family Member 1, Pancreatic	Protein Coding	3
70	CELA2A	Chymotrypsin Like Elastase 2A	Protein Coding	3
71	SOX17	SRY-Box Transcription Factor 17	Protein Coding	3
72	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	3
73	PDIA2	Protein Disulfide Isomerase Family A Member 2	Protein Coding	3
74	SPINK1	Serine Peptidase Inhibitor Kazal Type 1	Protein Coding	3
75	VTN	Vitronectin	Protein Coding	3
76	CA2	Carbonic Anhydrase 2	Protein Coding	3
77	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	3
78	TFPI2	Tissue Factor Pathway Inhibitor 2	Protein Coding	3
79	COL27A1	Collagen Type XXVII Alpha 1 Chain	Protein Coding	3
80	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	3
81	PROM1	Prominin 1	Protein Coding	3
82	CLDN10	Claudin 10	Protein Coding	3
83	CER1	Cerberus 1, DAN Family BMP Antagonist	Protein Coding	3
84	CD74	CD74 Molecule	Protein Coding	3
85	SPINK5	Serine Peptidase Inhibitor Kazal Type 5	Protein Coding	1
86	CNN1	Calponin 1	Protein Coding	1
87	CSPG4	Chondroitin Sulfate Proteoglycan 4	Protein Coding	1
88	DLX5	Distal-Less Homeobox 5	Protein Coding	1
89	KRT24	Keratin 24	Protein Coding	1
90	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
91	KRT78	Keratin 78	Protein Coding	1
92	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
93	ALDH1A1	Aldehyde Dehydrogenase 1 Family Member A1	Protein Coding	1
94	FABP5	Fatty Acid Binding Protein 5	Protein Coding	1
95	ALDH1A3	Aldehyde Dehydrogenase 1 Family Member A3	Protein Coding	1
96	FLG	Filaggrin	Protein Coding	1
97	CASP14	Caspase 14	Protein Coding	1
98	KLK5	Kallikrein Related Peptidase 5	Protein Coding	1
99	LRIG1	Leucine Rich Repeats And Immunoglobulin Like Domains 1	Protein Coding	1
100	GATA3	GATA Binding Protein 3	Protein Coding	1
101	GJB3	Gap Junction Protein Beta 3	Protein Coding	1
102	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	1
103	AQP3	Aquaporin 3 (Gill Blood Group)	Protein Coding	1
104	ITGA6	Integrin Subunit Alpha 6	Protein Coding	1
105	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
106	ITGB4	Integrin Subunit Beta 4	Protein Coding	1
107	IVL	Involucrin	Protein Coding	1
108	AREG	Amphiregulin	Protein Coding	1
109	SBSN	Suprabasin	Protein Coding	1
110	KRT1	Keratin 1	Protein Coding	1
111	KRT5	Keratin 5	Protein Coding	1
112	KRT10	Keratin 10	Protein Coding	1
113	KRT14	Keratin 14	Protein Coding	1
114	KRT15	Keratin 15	Protein Coding	1
115	KRTDAP	Keratinocyte Differentiation Associated Protein	Protein Coding	1
116	LGALS7	Galectin 7	Protein Coding	1
117	LORICRIN	Loricrin Cornified Envelope Precursor Protein	Protein Coding	1
118	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	1
119	MME	Membrane Metalloendopeptidase	Protein Coding	1
120	KPRP	Keratinocyte Proline Rich Protein	Protein Coding	1
121	MYH11	Myosin Heavy Chain 11	Protein Coding	1
122	CALML5	Calmodulin Like 5	Protein Coding	1
123	PRSS3	Serine Protease 3	Protein Coding	1
124	KLK7	Kallikrein Related Peptidase 7	Protein Coding	1
125	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
126	LGALS7B	Galectin 7B	Protein Coding	1
127	SPRR2A	Small Proline Rich Protein 2A	Protein Coding	1
128	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	1
129	TFAP2C	Transcription Factor AP-2 Gamma	Protein Coding	1
130	TFRC	Transferrin Receptor	Protein Coding	1
131	TGFA	Transforming Growth Factor Alpha	Protein Coding	1
132	VIM	Vimentin	Protein Coding	1
133	HOPX	HOP Homeobox	Protein Coding	1
134	NUMB	NUMB Endocytic Adaptor Protein	Protein Coding	1
135	DMKN	Dermokine	Protein Coding	1
136	ABCG2	ATP Binding Cassette Subfamily G Member 2 (JR Blood Group)	Protein Coding	1
137	CD44	CD44 Molecule (IN Blood Group)	Protein Coding	1

Disorders associated with Developmental Cell Lineages of the Exocrine Pancreas SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	8.68
2	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	8.68
3	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2	8.30
4	Junctional epidermolysis bullosa	Enrichment	ITGA6, ITGB4, LAMA3, LAMB3, LAMC2	7.92
5	Hereditary chronic pancreatitis	Enrichment	CFTR, CPA1, CTRC, PRSS1, SPINK1	7.81
6	Pancreatitis, hereditary	Enrichment	CFTR, CPA1, CTRC, PRSS1, SPINK1	7.33
7	Skin disease	Enrichment	FLG, ITGB4, KRT14, KRT17, LAMB3, LAMC2	7.21
8	Maturity-onset diabetes of the young	Enrichment	CEL, HNF1B, PDX1, PTF1A	6.92
9	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	6.83
10	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	6.83
11	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3, LAMB3, LAMC2	6.08
12	Connective tissue disease	Enrichment	COL11A1, COL2A1, COL5A1, SOX9	5.34
13	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, COL1A1, COL3A1, COL5A1, COL5A2, MYH11	5.31
14	Pancreas, dorsal, agenesis of	Enrichment	PDX1, PTF1A	5.27
15	Tropical calcific pancreatitis	Enrichment	CTRC, SPINK1	5.27
16	Kallikrein, decreased urinary activity of	Enrichment	KLK1, PTF1A	5.27
17	Lung cancer susceptibility 3	Enrichment	ACTA2, EGFR, ERBB2, FGF10	5.04
18	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4, KRT14, KRT5	5.00
19	Epidermolysis bullosa	Enrichment	ITGA6, KRT5, LAMB3	5.00
20	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	4.91
21	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	4.91
22	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL11A2, COL2A1	4.91
23	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL11A2, COL2A1	4.91
24	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	4.91
25	Fibrochondrogenesis	Enrichment	COL11A1, COL11A2	4.91
26	Stickler syndrome, type ii	Enrichment	COL11A1, COL1A1	4.91
27	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	4.91
28	Congenital heart defects, multiple types, 4	Enrichment	GATA4, GATA6	4.78
29	Heart, malformation of	Enrichment	COL11A2, COL2A1, GATA4	4.49
30	Epidermolysis bullosa simplex	Enrichment	ITGB4, KRT14, KRT5	4.47
31	Telecanthus	Enrichment	COL11A1, COL5A2	4.44
32	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A1, COL5A2	4.44
33	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	4.44
34	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	4.14
35	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	4.14
36	Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive	Enrichment	KRT14, KRT5	3.99
37	46,xy partial gonadal dysgenesis	Enrichment	GATA4, SOX9	3.82
38	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	3.74
39	Keratoconus	Enrichment	COL1A1, COL5A2	3.74
40	Patent foramen ovale	Enrichment	GATA4, GATA6	3.60
41	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	3.59
42	Diabetes mellitus	Enrichment	CELA2A, SPINK1	3.53
43	Ichthyosis with confetti	Enrichment	KRT1, KRT10	3.52
44	Ichthyosis, annular epidermolytic, 1	Enrichment	KRT1, KRT10	3.52
45	Annular epidermolytic ichthyosis	Enrichment	KRT1, KRT10	3.52
46	Autosomal dominant epidermolytic ichthyosis	Enrichment	KRT1, KRT10	3.52
47	Multiple sclerosis	Enrichment	ITGB4, LAMA5, LAMB1	3.47
48	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1, GATA4, MYH11	3.47
49	Myopia	Enrichment	COL11A1, COL2A1, MYH11	3.38
50	Familial atrial fibrillation	Enrichment	GATA4, GATA6	3.35
51	Nephrotic syndrome	Enrichment	FN1, LAMA5, LAMB2	3.33
52	Tetralogy of fallot	Enrichment	GATA4, GATA6	3.28
53	Stickler syndrome	Enrichment	COL11A1, COL2A1	3.27
54	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	3.27
55	Epidermolysis bullosa simplex 1b, generalized intermediate	Enrichment	KRT14, KRT5	3.22
56	Epidermolysis bullosa simplex generalized type	Enrichment	KRT14, KRT5	3.22
57	Epidermolytic hyperkeratosis	Enrichment	KRT1, KRT10	3.22
58	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	3.18
59	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	3.03
60	Epidermolysis bullosa simplex 2f, with mottled pigmentation	Enrichment	KRT14, KRT5	3.00
61	Epidermolysis bullosa simplex 1a, generalized severe	Enrichment	KRT14, KRT5	3.00
62	Epidermolytic hyperkeratosis 1	Enrichment	KRT1, KRT10	3.00
63	Osteoporosis	Enrichment	COL1A1, COL1A2	2.96
64	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	2.90
65	Holoprosencephaly 3	Enrichment	SHH	2.88
66	Pancreatic agenesis 1	Enrichment	PDX1	2.88
67	Maturity-onset diabetes of the young, type 4	Enrichment	PDX1	2.88
68	Hypomagnesemia 4, renal	Enrichment	EGF	2.88
69	Microphthalmia/coloboma 5	Enrichment	SHH	2.88
70	Prostate cancer, hereditary, 11	Enrichment	HNF1B	2.88
71	Vesicoureteral reflux 3	Enrichment	SOX17	2.88
72	Whim syndrome 1	Enrichment	CXCR4	2.88
73	Atrioventricular septal defect 4	Enrichment	GATA4	2.88
74	Atrioventricular septal defect 5	Enrichment	GATA6	2.88
75	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	2.88
76	46,xy sex reversal 10	Enrichment	SOX9	2.88
77	46,xx sex reversal 2	Enrichment	SOX9	2.88
78	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	2.88
79	Atrial septal defect 2	Enrichment	GATA4	2.88
80	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	2.88
81	Atrial septal defect 9	Enrichment	GATA6	2.88
82	8p23.1 microdeletion syndrome	Enrichment	GATA4	2.88
83	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	2.88
84	Pulmonary hypertension, primary, 7	Enrichment	SOX17	2.88
85	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	2.88
86	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	2.88
87	Medullary sponge kidney	Enrichment	HNF1B	2.88
88	Renal dysplasia, bilateral	Enrichment	HNF1B	2.88
89	Unilateral multicystic dysplastic kidney	Enrichment	HNF1B	2.88
90	Renal dysplasia, unilateral	Enrichment	HNF1B	2.88
91	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.88
92	Interstitial lung disease specific to childhood	Enrichment	FGF10	2.88
93	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	2.88
94	Type 2 diabetes mellitus	Enrichment	HNF1B, PDX1	2.86
95	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4	2.83
96	Maturity-onset diabetes of the young, type 8, with exocrine dysfunction	Enrichment	CEL	2.63
97	Pancreatic and cerebellar agenesis	Enrichment	PTF1A	2.63
98	Abdominal obesity-metabolic syndrome 4	Enrichment	CELA2A	2.63
99	Pancreatic lipase deficiency	Enrichment	PNLIP	2.63
100	Pancreatic triacylglycerol lipase deficiency	Enrichment	PNLIP	2.63
101	Tubulointerstitial kidney disease, autosomal dominant 1	Enrichment	HNF1B	2.58
102	Renal cysts and diabetes syndrome	Enrichment	HNF1B	2.58
103	Congenital anomalies of kidney and urinary tract 2	Enrichment	HNF1B	2.58
104	Campomelic dysplasia	Enrichment	SOX9	2.58
105	Pulmonary hypoplasia, primary	Enrichment	FGF10	2.58
106	Solitary median maxillary central incisor	Enrichment	SHH	2.58
107	Neutropenia, severe congenital, 8, autosomal dominant	Enrichment	GATA6	2.58
108	Hyperuricemic nephropathy, familial juvenile, 3	Enrichment	HNF1B	2.58
109	46,xy sex reversal 3	Enrichment	GATA4	2.58
110	Isolated radial hemimelia	Enrichment	SHH	2.58
111	Campomelic dysplasia and related disorders	Enrichment	SOX9	2.58
112	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJB3, LORICRIN	2.56
113	Brittle bone disorder	Enrichment	COL1A1, COL1A2	2.53
114	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1, MYH11	2.46
115	Stickler syndrome, type i	Enrichment	COL2A1	2.45
116	Pachyonychia congenita 2	Enrichment	KRT17	2.45
117	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.45
118	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.45
119	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.45
120	Deafness, autosomal recessive 53	Enrichment	COL11A2	2.45
121	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.45
122	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.45
123	Czech dysplasia	Enrichment	COL2A1	2.45
124	Stargardt disease 4	Enrichment	PROM1	2.45
125	Marshall syndrome	Enrichment	COL11A1	2.45
126	Kniest dysplasia	Enrichment	COL2A1	2.45
127	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	2.45
128	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	2.45
129	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.45
130	Blood group, colton system	Enrichment	AQP1	2.45
131	Fibrochondrogenesis 1	Enrichment	COL11A1	2.45
132	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.45
133	Lissencephaly 5	Enrichment	LAMB1	2.45
134	Macular dystrophy, retinal, 2	Enrichment	PROM1	2.45
135	Steatocystoma multiplex	Enrichment	KRT17	2.45
136	Acrogeria, gottron type	Enrichment	COL3A1	2.45
137	Achondrogenesis, type ii	Enrichment	COL2A1	2.45
138	Helix syndrome	Enrichment	CLDN10	2.45
139	Nephrotic syndrome, type 26	Enrichment	LAMA5	2.45
140	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.45
141	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.45
142	Deafness, autosomal dominant 37	Enrichment	COL11A1	2.45
143	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	2.45
144	Deafness, autosomal dominant 13	Enrichment	COL11A2	2.45
145	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.45
146	Cortical malformations, occipital	Enrichment	LAMC3	2.45
147	Fibrochondrogenesis 2	Enrichment	COL11A2	2.45
148	Retinitis pigmentosa 41	Enrichment	PROM1	2.45
149	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	2.45
150	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.45
151	Asphyxia neonatorum	Enrichment	COL1A1	2.45
152	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	2.45
153	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	2.45
154	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.45
155	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.45
156	Hypochondrogenesis	Enrichment	COL2A1	2.45
157	Pneumothorax	Enrichment	COL5A1	2.45
158	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Enrichment	COL11A1	2.45
159	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.45
160	Cystic lymphangioma	Enrichment	COL11A2	2.45
161	Abdominal aortic aneurysm	Enrichment	COL3A1	2.45
162	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.45
163	Lama5-related multisystemic syndrome	Enrichment	LAMA5	2.45
164	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	2.45
165	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10	2.40
166	Syndactyly, type iv	Enrichment	SHH	2.40
167	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	HNF1B	2.40
168	46,xx sex reversal 1	Enrichment	SOX9	2.40
169	Heart defects, congenital, and other congenital anomalies	Enrichment	GATA6	2.40
170	Chromosome 17q12 deletion syndrome	Enrichment	HNF1B	2.40
171	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	2.40
172	Chromophobe renal cell carcinoma	Enrichment	HNF1B	2.40
173	Familial vesicoureteral reflux	Enrichment	SOX17	2.40
174	Lung cancer	Enrichment	ACTA2, EGFR, ERBB2	2.39
175	Glycine n-methyltransferase deficiency	Enrichment	GNMT	2.33
176	Peroxisome biogenesis disorder 4b	Enrichment	GNMT	2.33
177	Pancreatic agenesis 2	Enrichment	PTF1A	2.33
178	Trypsinogen deficiency	Enrichment	PRSS1	2.33
179	Stargardt disease 1	Enrichment	COL2A1, PROM1	2.30
180	Lung non-small cell carcinoma	Enrichment	EGFR, ERBB2	2.28
181	Polydactyly, preaxial ii	Enrichment	SHH	2.28
182	Schizencephaly	Enrichment	SHH	2.28
183	Transposition of the great arteries	Enrichment	GATA4	2.28
184	Middle aortic syndrome	Enrichment	GATA6	2.28
185	Ventricular septal defect 1	Enrichment	GATA4	2.18
186	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	SOX9	2.18
187	Persistent truncus arteriosus	Enrichment	GATA6	2.18
188	Brown-vialetto-van laere syndrome 2	Enrichment	GNMT	2.15
189	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	2.15
190	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	2.15
191	Amelogenesis imperfecta, type ia	Enrichment	LAMB3	2.15
192	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1	2.15
193	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	2.15
194	Bruck syndrome 1	Enrichment	COL1A2	2.15
195	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	2.15
196	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	2.15
197	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	2.15
198	Legg-calve-perthes disease	Enrichment	COL2A1	2.15
199	Proximal renal tubular acidosis-ocular anomaly syndrome	Enrichment	SLC4A4	2.15
200	Lissencephaly 1	Enrichment	LAMB1	2.15
201	Pierson syndrome	Enrichment	LAMB2	2.15
202	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	2.15
203	Epidermolysis bullosa, junctional 3b, severe	Enrichment	LAMC2	2.15
204	Epidermolysis bullosa, junctional 3a, intermediate	Enrichment	LAMC2	2.15
205	Fibromuscular dysplasia, multifocal	Enrichment	COL5A1	2.15
206	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	2.15
207	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	2.15
208	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	2.15
209	Osteopetrosis, autosomal recessive 3	Enrichment	CA2	2.15
210	Aortic dissection	Enrichment	COL3A1	2.15
211	Steel syndrome	Enrichment	COL27A1	2.15
212	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	2.15
213	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	2.15
214	Autosomal recessive proximal renal tubular acidosis	Enrichment	SLC4A4	2.15
215	Dentinogenesis imperfecta	Enrichment	COL1A2	2.15
216	Conotruncal heart malformations	Enrichment	GATA6	2.10
217	Pierre robin syndrome	Enrichment	SOX9	2.10
218	Coronary artery anomaly	Enrichment	CELA2A	2.03
219	Lynch syndrome	Enrichment	CFTR, EPCAM	2.01
220	Septopreoptic holoprosencephaly	Enrichment	DLL1, SHH	2.01
221	Midline interhemispheric variant of holoprosencephaly	Enrichment	DLL1, SHH	2.01
222	Ichthyosis hystrix, curth-macklin type	Enrichment	KRT1	2.00
223	Dermatopathia pigmentosa reticularis	Enrichment	KRT14	2.00
224	Paget disease, extramammary	Enrichment	ERBB2	2.00
225	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	Enrichment	DLX5	2.00
226	Palmoplantar keratoderma, nonepidermolytic	Enrichment	KRT1	2.00
227	Vohwinkel syndrome, variant form	Enrichment	LORICRIN	2.00
228	Naegeli-franceschetti-jadassohn syndrome	Enrichment	KRT14	2.00
229	Uric acid concentration, serum, quantitative trait locus 1	Enrichment	ABCG2	2.00
230	Spinocerebellar ataxia 43	Enrichment	MME	2.00
231	Deafness, autosomal dominant 2b	Enrichment	GJB3	2.00
232	Ichthyosis, congenital, autosomal recessive 12	Enrichment	CASP14	2.00
233	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.00
234	Ichthyosis, annular epidermolytic, 2	Enrichment	KRT1	2.00
235	Netherton syndrome	Enrichment	SPINK5	2.00
236	Keratosis palmoplantaris striata iii	Enrichment	KRT1	2.00
237	Immunodeficiency 46	Enrichment	TFRC	2.00
238	Lynch syndrome 8	Enrichment	EPCAM	2.00
239	Blood group, junior system	Enrichment	ABCG2	2.00
240	Neuropathy with hearing impairment	Enrichment	GJB3	2.00
241	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	Enrichment	MME	2.00
242	Charcot-marie-tooth disease type 2t	Enrichment	MME	2.00
243	Palmoplantar keratoderma, epidermolytic, 2	Enrichment	KRT1	2.00
244	Mme-related autosomal dominant charcot marie tooth disease type 2	Enrichment	MME	2.00
245	Ichthyosis linearis circumflexa	Enrichment	SPINK5	2.00
246	Split hand-foot malformation 1 with sensorineural hearing loss	Enrichment	DLX5	2.00
247	Autosomal recessive epidermolytic ichthyosis	Enrichment	KRT10	2.00
248	Premature aging	Enrichment	VIM	2.00
249	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.00
250	Permanent neonatal diabetes mellitus	Enrichment	PDX1	1.98
251	Combined pituitary hormone deficiency	Enrichment	FOXA2	1.98
252	Mccune-albright syndrome	Enrichment	COL2A1	1.98
253	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.98
254	Megalocornea	Enrichment	COL11A1	1.98
255	Nail disorder, nonsyndromic congenital, 4	Enrichment	KRT17	1.98
256	Hypophosphatasia, infantile	Enrichment	COL11A2	1.98
257	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.98
258	Nuchal bleb, familial	Enrichment	CFTR	1.98
259	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	1.98
260	Cone-rod dystrophy 12	Enrichment	PROM1	1.98
261	Caffey disease	Enrichment	COL1A1	1.98
262	Poretti-boltshauser syndrome	Enrichment	LAMA1	1.98
263	Multiple epiphyseal dysplasia	Enrichment	COL2A1	1.98
264	Lama2-related muscular dystrophy	Enrichment	LAMA2	1.98
265	Microform holoprosencephaly	Enrichment	DLL1, SHH	1.96
266	Lobar holoprosencephaly	Enrichment	DLL1, SHH	1.96
267	Vitamin d-dependent rickets, type 2a	Enrichment	PRSS1	1.93
268	Orofacial cleft 1	Enrichment	FGF10	1.93
269	Adult hepatocellular carcinoma	Enrichment	EGF	1.93
270	Alobar holoprosencephaly	Enrichment	DLL1, SHH	1.90
271	Semilobar holoprosencephaly	Enrichment	DLL1, SHH	1.86
272	Pachyonychia congenita 1	Enrichment	KRT17	1.85
273	Phenylketonuria	Enrichment	COL1A1	1.85
274	Malignant epithelioid hemangioendothelioma	Enrichment	YAP1	1.85
275	Idiopathic bronchiectasis	Enrichment	CFTR	1.85
276	46,xy complete gonadal dysgenesis	Enrichment	SOX9	1.84
277	Heritable pulmonary arterial hypertension	Enrichment	SOX17	1.84
278	Hypertelorism	Enrichment	COL11A1, COL1A1	1.84
279	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	COL11A1, COL11A2	1.84
280	Septooptic dysplasia	Enrichment	SHH	1.80
281	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR, GATA4	1.78
282	Macs syndrome	Enrichment	ALDH1A3, SHH	1.77
283	Diaphragmatic hernia, congenital	Enrichment	GATA6	1.77
284	Pulmonary hypertension, primary, 1	Enrichment	SOX17	1.77
285	Retinal detachment	Enrichment	COL2A1	1.76
286	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	LAMA2	1.76
287	Osteopetrosis	Enrichment	CA2	1.76
288	Familial cerebral saccular aneurysm	Enrichment	COL3A1	1.76
289	Heart disease	Enrichment	GATA4	1.73
290	Hereditary retinal dystrophy	Enrichment	COL11A2, COL2A1, LAMA1, PROM1	1.72
291	Fundus dystrophy	Enrichment	COL11A2, COL2A1, LAMA1, PROM1	1.72
292	Renal cell carcinoma, nonpapillary	Enrichment	HNF1B	1.70
293	Aortic aneurysm, familial thoracic 4	Enrichment	MYH11	1.70
294	Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	Enrichment	GATA3	1.70
295	Ichthyosis hystrix, lambert type	Enrichment	KRT10	1.70
296	Ichthyosis vulgaris	Enrichment	FLG	1.70
297	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.70
298	Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy	Enrichment	KRT1	1.70
299	Epidermolysis bullosa simplex 2e, with migratory circinate erythema	Enrichment	KRT5	1.70
300	Dermatitis, atopic, 2	Enrichment	FLG	1.70
301	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.70
302	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.70
303	Moyamoya disease 5	Enrichment	ACTA2	1.70
304	Diarrhea 5, with tufting enteropathy, congenital	Enrichment	EPCAM	1.70
305	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Enrichment	MYH11	1.70
306	Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	Enrichment	KRT5	1.70
307	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	1.70
308	Sjogren-larsson syndrome	Enrichment	KRT14	1.70
309	Epidermolytic hyperkeratosis 2a, autosomal dominant	Enrichment	KRT10	1.70
310	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Enrichment	DLL1	1.70
311	Ichthyosis, x-linked	Enrichment	FLG	1.70
312	Microphthalmia, isolated 8	Enrichment	ALDH1A3	1.70
313	Cataract 30	Enrichment	VIM	1.70
314	Dermatitis	Enrichment	FLG	1.70
315	Epidermolytic acanthoma	Enrichment	KRT10	1.70
316	Visceral myopathy 2	Enrichment	MYH11	1.70
317	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	Enrichment	GATA3	1.70
318	Hypoparathyroidism-deafness-renal disease syndrome	Enrichment	GATA3	1.70
319	Esotropia	Enrichment	TFAP2A	1.70
320	Charcot-marie-tooth disease, axonal, type 2t	Enrichment	MME	1.70
321	Epidermolysis bullosa simplex 2a, generalized severe	Enrichment	KRT5	1.70
322	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	1.70
323	Autosomal dominant nonsyndromic deafness	Enrichment	GATA3	1.70
324	Lens subluxation	Enrichment	TFAP2A	1.70
325	Microphthalmia	Enrichment	ALDH1A3, TFAP2A	1.69
326	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.68
327	Inguinal hernia	Enrichment	COL5A1	1.68
328	Pain disorder	Enrichment	COL5A1	1.68
329	Intervertebral disc disease	Enrichment	COL11A1	1.61
330	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.61
331	Gastroesophageal reflux	Enrichment	COL5A1	1.55
332	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1	1.55
333	Leber congenital amaurosis 1	Enrichment	PROM1	1.55
334	Orthostatic intolerance	Enrichment	COL5A1	1.55
335	Congenital muscular dystrophy	Enrichment	LAMA2	1.55
336	Palmoplantar keratoderma, epidermolytic, 1	Enrichment	KRT1	1.52
337	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.52
338	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.52
339	Epidermolysis bullosa simplex 2b, generalized intermediate	Enrichment	KRT5	1.52
340	Epidermolytic hyperkeratosis 2b, autosomal recessive	Enrichment	KRT10	1.52
341	Keratosis palmoplantaris striata	Enrichment	KRT1	1.52
342	End stage renal disease	Enrichment	GATA3	1.52
343	Epidermolysis bullosa simplex 2c, localized	Enrichment	KRT5	1.52
344	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.52
345	Isolated anophthalmia-microphthalmia syndrome	Enrichment	ALDH1A3	1.52
346	Tricuspid valve insufficiency	Enrichment	MYH11	1.52
347	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	1.50
348	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	1.50
349	Bladder cancer	Enrichment	EGFR, ERBB2	1.46
350	Marfan syndrome	Enrichment	COL2A1	1.46
351	Amelogenesis imperfecta, type ie	Enrichment	LAMB3	1.46
352	Autism	Enrichment	ALDH1A3, COL11A1, SHH	1.44
353	Hypertension	Enrichment	CELA2A	1.43
354	Prostate cancer	Enrichment	HNF1B	1.42
355	Presynaptic congenital myasthenic syndromes	Enrichment	LAMA5	1.42
356	Branchiooculofacial syndrome	Enrichment	TFAP2A	1.40
357	Otitis media	Enrichment	SPINK5	1.40
358	Dowling-degos disease 1	Enrichment	KRT5	1.40
359	Deafness, autosomal recessive 1a	Enrichment	GJB3	1.40
360	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	MYH11	1.40
361	Dermatitis, atopic	Enrichment	FLG	1.40
362	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.40
363	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.40
364	Barrett esophagus	Enrichment	ERBB2	1.40
365	Dowling-degos disease	Enrichment	KRT5	1.40
366	Epidermolytic nevus	Enrichment	KRT10	1.40
367	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	MYH11	1.40
368	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	GJB3	1.40
369	Mitral valve insufficiency	Enrichment	MYH11	1.40
370	Cutis laxa	Enrichment	COL5A1	1.38
371	Cakut	Enrichment	HNF1B	1.35
372	Microphthalmia/coloboma 12	Enrichment	YAP1	1.35
373	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	COL5A1	1.35
374	Clubfoot	Enrichment	COL5A1	1.35
375	Amelogenesis imperfecta	Enrichment	LAMB3	1.35
376	Cataract	Enrichment	COL5A1	1.31
377	Isolated macular dystrophy	Enrichment	PROM1	1.31
378	Visceral myopathy 1	Enrichment	MYH11	1.31
379	Amblyopia	Enrichment	TFAP2A	1.31
380	Histiocytoid hemangioma	Enrichment	VIM	1.31
381	Aplasia cutis congenita	Enrichment	ITGB4	1.31
382	Coloboma of macula	Enrichment	YAP1	1.29
383	Kidney disease	Enrichment	LAMB2	1.29
384	Creatine phosphokinase, elevated serum	Enrichment	LAMA2	1.26
385	Isolated elevated serum creatine phosphokinase levels	Enrichment	LAMA2	1.26
386	Colorectal cancer	Enrichment	EPCAM, ERBB2, SOX9	1.24
387	Cleft palate, isolated	Enrichment	COL11A1	1.23
388	Branchiootorenal syndrome 1	Enrichment	TFAP2A	1.23
389	Cowden syndrome 1	Enrichment	EGFR	1.23
390	Split-hand/foot malformation 1	Enrichment	DLX5	1.23
391	Moyamoya disease 1	Enrichment	ACTA2	1.23
392	Intestinal pseudo-obstruction	Enrichment	MYH11	1.23
393	Lung squamous cell carcinoma	Enrichment	EGFR	1.23
394	Nonsyndromic hearing loss	Enrichment	COL11A2, GJB3	1.17
395	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.16
396	Branchiootorenal syndrome	Enrichment	TFAP2A	1.16
397	Paroxysmal dystonia	Enrichment	FLG	1.16
398	Gastric cancer	Enrichment	EPCAM, ERBB2	1.16
399	Glioma susceptibility 1	Enrichment	ERBB2	1.11
400	Isolated split hand-split foot malformation	Enrichment	DLX5	1.11
401	Ear malformation	Enrichment	COL11A2	1.09
402	Scoliosis	Enrichment	COL2A1	1.09
403	Ovarian cancer	Enrichment	EGFR, ERBB2, HNF1B	1.08
404	Colonic benign neoplasm	Enrichment	EPCAM	1.06
405	Dilated cardiomyopathy	Enrichment	GATA6, LAMA2	1.06
406	Cat eye syndrome	Enrichment	TFAP2A	1.02
407	Cataract 30, multiple types	Enrichment	VIM	1.02
408	Lynch syndrome 1	Enrichment	EPCAM	1.02
409	Nanophthalmos	Enrichment	ALDH1A3	0.98
410	Combined immunodeficiency	Enrichment	TFRC	0.98
411	Ichthyosis	Enrichment	FLG	0.98
412	Combined t cell and b cell immunodeficiency	Enrichment	TFRC	0.98
413	Combined t and b cell immunodeficiency	Enrichment	TFRC	0.98
414	Cystic fibrosis	Enrichment	CFTR	0.97
415	Usher syndrome	Enrichment	PROM1	0.96
416	Male infertility	Enrichment	CFTR	0.94
417	Genetic steroid-resistant nephrotic syndrome	Enrichment	LAMA5	0.94
418	Epicanthus	Enrichment	TFAP2A	0.94
419	Lip and oral cavity carcinoma	Enrichment	EGFR	0.94
420	Neural tube defects	Enrichment	ITGB1	0.91
421	Charcot-marie-tooth disease	Enrichment	LAMA2	0.87
422	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	FLG	0.82
423	Gliosarcoma	Enrichment	EGFR	0.82
424	Sensorineural hearing loss	Enrichment	COL11A2	0.80
425	Giant cell glioblastoma	Enrichment	EGFR	0.80
426	Familial isolated dilated cardiomyopathy	Enrichment	LAMA4	0.77
427	Arteriovenous malformations of the brain	Enrichment	EGFR	0.76
428	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	MME	0.76
429	Myeloma, multiple	Enrichment	YAP1	0.74
430	Tooth agenesis	Enrichment	TGFA	0.70
431	Cone-rod dystrophy 2	Enrichment	PROM1	0.67
432	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	COL11A2, GJB3	0.64
433	Rare genetic deafness	Enrichment	COL11A2	0.61
434	Hirschsprung disease 1	Enrichment	ERBB2	0.59
435	Peripheral nervous system disease	Enrichment	MME	0.56
436	Neuropathy	Enrichment	MME	0.56
437	Leber plus disease	Enrichment	PROM1	0.54
438	Hereditary breast carcinoma	Enrichment	EPCAM	0.44
439	Inherited cancer-predisposing syndrome	Enrichment	EGFR, EPCAM	0.41
440	Autosomal dominant non-syndromic intellectual disability	Enrichment	DLL1	0.40
441	Retinitis pigmentosa	Enrichment	PROM1	0.27
442	Breast cancer	Enrichment	EPCAM	0.27
443	Microcephaly	Enrichment	FLG	0.15

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

Developmental Cell Lineages of the Exocrine Pancreas

Pathway Network for Developmental Cell Lineages of the Exocrine Pancreas

Pathway network for the Developmental Cell Lineages of the Exocrine Pancreas SuperPath

Member Pathways for Developmental Cell Lineages of the Exocrine Pancreas

Pathways in the Developmental Cell Lineages of the Exocrine Pancreas SuperPath

Gene overlap in member pathways for Developmental Cell Lineages of the Exocrine Pancreas SuperPath

Associated Genes for Developmental Cell Lineages of the Exocrine Pancreas

Associated Disorders for Developmental Cell Lineages of the Exocrine Pancreas

Disorders associated with Developmental Cell Lineages of the Exocrine Pancreas SuperPath

STRING Interaction Network for Developmental Cell Lineages of the Exocrine Pancreas

Sources for Developmental Cell Lineages of the Exocrine Pancreas