Collagen chain trimerization

Pathway network for the Collagen chain trimerization SuperPath

Sources:

Reactome
QIAGEN

Pathways in the Collagen chain trimerization SuperPath

#	Name	Source	Genes
1	Collagen chain trimerization	Reactome	COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL26A1 COL27A1 COL28A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 (see all 44) (see less)
2	Extracellular matrix organization	Reactome	A2M ACAN ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTN1 ADAM10 ADAM12 ADAM15 ADAM17 ADAM19 ADAM8 ADAM9 ADAMTS1 ADAMTS14 ADAMTS16 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTS4 ADAMTS5 ADAMTS8 ADAMTS9 AGRN APP ASPN BCAN BGN BMP1 BMP10 BMP2 BMP4 BMP7 BSG CAPN1 CAPN10 CAPN11 CAPN12 CAPN13 CAPN14 CAPN15 CAPN2 CAPN3 CAPN5 CAPN6 CAPN7 CAPN8 CAPN9 CAPNS1 CAPNS2 CASK CAST CD151 CD44 CD47 CEACAM1 CEACAM6 CEACAM8 CMA1 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL26A1 COL27A1 COL28A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 COLGALT1 COLGALT2 COMP CRTAP CTRB1 CTRB2 CTSB CTSD CTSG CTSK CTSL CTSS CTSV DAG1 DCN DDR1 DDR2 DMD DMP1 DRP2 DSPP DST DTNA DTNB EFEMP1 EFEMP2 ELANE ELN EMILIN1 EMILIN2 EMILIN3 F11R FBLN1 FBLN2 FBLN5 FBN1 FBN2 FBN3 FGA FGB FGF2 FGG FMOD FN1 FURIN GDF5 HAPLN1 HSPG2 HTRA1 IBSP ICAM1 ICAM2 ICAM3 ICAM4 ICAM5 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAM2 JAM3 KDR KLK2 KLK7 KLKB1 LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 LOX LOXL1 LOXL2 LOXL3 LOXL4 LRP4 LTBP1 LTBP2 LTBP3 LTBP4 LUM MADCAM1 MATN1 MATN3 MATN4 MFAP2 MFAP3 MFAP4 MFAP5 MMP1 MMP10 MMP11 MMP12 MMP13 MMP14 MMP15 MMP16 MMP17 MMP19 MMP2 MMP20 MMP24 MMP25 MMP3 MMP7 MMP8 MMP9 MUSK NCAM1 NCAN NCSTN NID1 NID2 NRXN1 NTN4 OPTC P3H1 P3H2 P3H3 P4HA1 P4HA2 P4HA3 P4HB PCOLCE PCOLCE2 PDGFA PDGFB PECAM1 PHYKPL PLG PLOD1 PLOD2 PLOD3 PPIB PRKCA PRSS1 PRSS2 PSEN1 PTPRS PXDN SCUBE1 SCUBE3 SDC1 SDC2 SDC3 SDC4 SERPINE1 SERPINH1 SGCA SGCB SGCD SGCE SGCG SGCZ SH3PXD2A SNTA1 SNTB1 SNTB2 SNTG2 SPARC SPOCK3 SPP1 SSPN TGFB1 TGFB2 TGFB3 THBS1 TIMP1 TIMP2 TLL1 TLL2 TMPRSS6 TNC TNN TNR TNXB TPSAB1 TRAPPC4 TTR UTRN VCAM1 VCAN VTN VWF (see all 318) (see less)
3	Degradation of the extracellular matrix	Reactome	A2M ACAN ADAM10 ADAM15 ADAM17 ADAM8 ADAM9 ADAMTS1 ADAMTS16 ADAMTS18 ADAMTS4 ADAMTS5 ADAMTS8 ADAMTS9 BCAN BMP1 BSG CAPN1 CAPN10 CAPN11 CAPN12 CAPN13 CAPN14 CAPN15 CAPN2 CAPN3 CAPN5 CAPN6 CAPN7 CAPN8 CAPN9 CAPNS1 CAPNS2 CAST CD44 CMA1 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL23A1 COL25A1 COL26A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 CTRB1 CTRB2 CTSB CTSD CTSG CTSK CTSL CTSS CTSV DCN ELANE ELN FBN1 FBN2 FBN3 FN1 FURIN HSPG2 HTRA1 KLK2 KLK7 KLKB1 LAMA3 LAMA5 LAMB1 LAMB3 LAMC1 LAMC2 MMP1 MMP10 MMP11 MMP12 MMP13 MMP14 MMP15 MMP16 MMP17 MMP19 MMP2 MMP20 MMP24 MMP25 MMP3 MMP7 MMP8 MMP9 NCSTN NID1 OPTC PHYKPL PLG PRSS1 PRSS2 PSEN1 SCUBE1 SCUBE3 SPOCK3 SPP1 TIMP1 TIMP2 TLL1 TLL2 TMPRSS6 TPSAB1 (see all 138) (see less)
4	Collagen formation	Reactome	ADAMTS14 ADAMTS2 ADAMTS3 BMP1 CD151 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL26A1 COL27A1 COL28A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 COLGALT1 COLGALT2 CRTAP CTSB CTSL CTSS CTSV DST ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 LOX LOXL1 LOXL2 LOXL3 LOXL4 MMP13 MMP20 MMP3 MMP7 MMP9 P3H1 P3H2 P3H3 P4HA1 P4HA2 P4HA3 P4HB PCOLCE PCOLCE2 PLOD1 PLOD2 PLOD3 PPIB PXDN SERPINH1 TLL1 TLL2 (see all 89) (see less)
5	Blood Coagulation Cascade	QIAGEN	COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 F10 F11 F12 F13A1 F13B F2 F3 F5 F7 F8 F9 FGA FGB FGG KLK1 KLK10 KLK11 KLK12 KLK13 KLK14 KLK15 KLK2 KLK3 KLK4 KLK5 KLK6 KLK7 KLK8 KLK9 KLKB1 KNG1 PROC PROS1 SERPINC1 TFPI THBD (see all 76) (see less)
6	Intrinsic Prothrombin Activation Pathway	QIAGEN	COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 F10 F11 F12 F13A1 F13B F2 F5 F8 F9 FGA FGB FGG KLK1 KLK10 KLK11 KLK12 KLK13 KLK14 KLK15 KLK2 KLK3 KLK4 KLK5 KLK6 KLK7 KLK8 KLK9 KLKB1 KNG1 PROC PROS1 SERPINC1 THBD (see all 73) (see less)
7	Collagen biosynthesis and modifying enzymes	Reactome	ADAMTS14 ADAMTS2 ADAMTS3 BMP1 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL20A1 COL21A1 COL22A1 COL23A1 COL24A1 COL25A1 COL26A1 COL27A1 COL28A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 COLGALT1 COLGALT2 CRTAP P3H1 P3H2 P3H3 P4HA1 P4HA2 P4HA3 P4HB PCOLCE PCOLCE2 PLOD1 PLOD2 PLOD3 PPIB SERPINH1 TLL1 TLL2 (see all 67) (see less)
8	Collagen degradation	Reactome	ADAM10 ADAM17 ADAM9 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL15A1 COL16A1 COL17A1 COL18A1 COL19A1 COL1A1 COL1A2 COL23A1 COL25A1 COL26A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 CTSB CTSD CTSK CTSL ELANE FURIN MMP1 MMP10 MMP11 MMP12 MMP13 MMP14 MMP15 MMP19 MMP2 MMP20 MMP3 MMP7 MMP8 MMP9 PHYKPL PRSS2 TMPRSS6 (see all 64) (see less)
9	Assembly of collagen fibrils and other multimeric structures	Reactome	BMP1 CD151 COL10A1 COL11A1 COL11A2 COL12A1 COL14A1 COL15A1 COL17A1 COL18A1 COL1A1 COL1A2 COL24A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 CTSB CTSL CTSS CTSV DST ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 LOX LOXL1 LOXL2 LOXL3 LOXL4 MMP13 MMP20 MMP3 MMP7 MMP9 PCOLCE PXDN TLL1 TLL2 (see all 60) (see less)
10	Crosslinking of collagen fibrils	Reactome	BMP1 COL1A1 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 LOX LOXL1 LOXL2 LOXL3 LOXL4 PCOLCE PXDN TLL1 TLL2 (see all 18) (see less)
11	Anchoring fibril formation	Reactome	BMP1 COL1A1 COL1A2 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 LAMA3 LAMB3 LAMC2 TLL1 TLL2 (see all 15) (see less)

Gene overlap in member pathways for Collagen chain trimerization SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	11
2	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	11
3	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	11
4	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	11
5	COL4A3	Collagen Type IV Alpha 3 Chain	Protein Coding	11
6	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	11
7	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	11
8	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	11
9	COL7A1	Collagen Type VII Alpha 1 Chain	Protein Coding	10
10	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	9
11	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	9
12	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	9
13	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	9
14	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	9
15	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	9
16	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	9
17	COL8A1	Collagen Type VIII Alpha 1 Chain	Protein Coding	9
18	COL8A2	Collagen Type VIII Alpha 2 Chain	Protein Coding	9
19	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	9
20	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	9
21	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	9
22	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	9
23	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	9
24	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	9
25	COL12A1	Collagen Type XII Alpha 1 Chain	Protein Coding	9
26	COL15A1	Collagen Type XV Alpha 1 Chain	Protein Coding	9
27	COL17A1	Collagen Type XVII Alpha 1 Chain	Protein Coding	9
28	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	9
29	COL14A1	Collagen Type XIV Alpha 1 Chain	Protein Coding	9
30	COL18A1	Collagen Type XVIII Alpha 1 Chain	Protein Coding	9
31	COL13A1	Collagen Type XIII Alpha 1 Chain	Protein Coding	8
32	COL16A1	Collagen Type XVI Alpha 1 Chain	Protein Coding	8
33	COL19A1	Collagen Type XIX Alpha 1 Chain	Protein Coding	8
34	COL25A1	Collagen Type XXV Alpha 1 Chain	Protein Coding	8
35	COL23A1	Collagen Type XXIII Alpha 1 Chain	Protein Coding	8
36	COL6A6	Collagen Type VI Alpha 6 Chain	Protein Coding	7
37	COL24A1	Collagen Type XXIV Alpha 1 Chain	Protein Coding	7
38	COL6A5	Collagen Type VI Alpha 5 Chain	Protein Coding	7
39	COL27A1	Collagen Type XXVII Alpha 1 Chain	Protein Coding	7
40	BMP1	Bone Morphogenetic Protein 1	Protein Coding	7
41	TLL1	Tolloid Like 1	Protein Coding	7
42	TLL2	Tolloid Like 2	Protein Coding	7
43	COL26A1	Collagen Type XXVI Alpha 1 Chain	Protein Coding	6
44	COL22A1	Collagen Type XXII Alpha 1 Chain	Protein Coding	6
45	COL20A1	Collagen Type XX Alpha 1 Chain	Protein Coding	6
46	COL21A1	Collagen Type XXI Alpha 1 Chain	Protein Coding	6
47	CTSB	Cathepsin B	Protein Coding	5
48	CTSL	Cathepsin L	Protein Coding	5
49	LAMA3	Laminin Subunit Alpha 3	Protein Coding	5
50	LAMB3	Laminin Subunit Beta 3	Protein Coding	5
51	LAMC2	Laminin Subunit Gamma 2	Protein Coding	5
52	MMP3	Matrix Metallopeptidase 3	Protein Coding	5
53	MMP7	Matrix Metallopeptidase 7	Protein Coding	5
54	MMP9	Matrix Metallopeptidase 9	Protein Coding	5
55	MMP13	Matrix Metallopeptidase 13	Protein Coding	5
56	PCOLCE	Procollagen C-Endopeptidase Enhancer	Protein Coding	5
57	MMP20	Matrix Metallopeptidase 20	Protein Coding	5
58	COL28A1	Collagen Type XXVIII Alpha 1 Chain	Protein Coding	4
59	CTSV	Cathepsin V	Protein Coding	4
60	CTSS	Cathepsin S	Protein Coding	4
61	KLK2	Kallikrein Related Peptidase 2	Protein Coding	4
62	KLKB1	Kallikrein B1	Protein Coding	4
63	LOX	Lysyl Oxidase	Protein Coding	4
64	LOXL1	Lysyl Oxidase Like 1	Protein Coding	4
65	LOXL2	Lysyl Oxidase Like 2	Protein Coding	4
66	KLK7	Kallikrein Related Peptidase 7	Protein Coding	4
67	PXDN	Peroxidasin	Protein Coding	4
68	LOXL4	Lysyl Oxidase Like 4	Protein Coding	4
69	LOXL3	Lysyl Oxidase Like 3	Protein Coding	4
70	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	3
71	CRTAP	Cartilage Associated Protein	Protein Coding	3
72	P3H3	Prolyl 3-Hydroxylase 3	Protein Coding	3
73	ADAMTS14	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 14	Protein Coding	3
74	CTSD	Cathepsin D	Protein Coding	3
75	CTSK	Cathepsin K	Protein Coding	3
76	TMPRSS6	Transmembrane Serine Protease 6	Protein Coding	3
77	ELANE	Elastase, Neutrophil Expressed	Protein Coding	3
78	FGA	Fibrinogen Alpha Chain	Protein Coding	3
79	FGB	Fibrinogen Beta Chain	Protein Coding	3
80	FGG	Fibrinogen Gamma Chain	Protein Coding	3
81	COLGALT2	Collagen Beta(1-O)Galactosyltransferase 2	Protein Coding	3
82	PCOLCE2	Procollagen C-Endopeptidase Enhancer 2	Protein Coding	3
83	P4HA3	Prolyl 4-Hydroxylase Subunit Alpha 3	Protein Coding	3
84	ITGA6	Integrin Subunit Alpha 6	Protein Coding	3
85	ITGB4	Integrin Subunit Beta 4	Protein Coding	3
86	MMP1	Matrix Metallopeptidase 1	Protein Coding	3
87	MMP2	Matrix Metallopeptidase 2	Protein Coding	3
88	MMP8	Matrix Metallopeptidase 8	Protein Coding	3
89	MMP10	Matrix Metallopeptidase 10	Protein Coding	3
90	MMP11	Matrix Metallopeptidase 11	Protein Coding	3
91	MMP12	Matrix Metallopeptidase 12	Protein Coding	3
92	MMP14	Matrix Metallopeptidase 14	Protein Coding	3
93	MMP15	Matrix Metallopeptidase 15	Protein Coding	3
94	MMP19	Matrix Metallopeptidase 19	Protein Coding	3
95	P4HA1	Prolyl 4-Hydroxylase Subunit Alpha 1	Protein Coding	3
96	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	3
97	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	3
98	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	3
99	PLOD2	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2	Protein Coding	3
100	PPIB	Peptidylprolyl Isomerase B	Protein Coding	3
101	P3H2	Prolyl 3-Hydroxylase 2	Protein Coding	3
102	PRSS2	Serine Protease 2	Protein Coding	3
103	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	3
104	DST	Dystonin	Protein Coding	3
105	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	3
106	COLGALT1	Collagen Beta(1-O)Galactosyltransferase 1	Protein Coding	3
107	PHYKPL	5-Phosphohydroxy-L-Lysine Phospho-Lyase	Protein Coding	3
108	SERPINH1	Serpin Family H Member 1	Protein Coding	3
109	ADAM9	ADAM Metallopeptidase Domain 9	Protein Coding	3
110	P4HA2	Prolyl 4-Hydroxylase Subunit Alpha 2	Protein Coding	3
111	PLOD3	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3	Protein Coding	3
112	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	3
113	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	3
114	CD151	CD151 Molecule (Raph Blood Group)	Protein Coding	3
115	ADAM8	ADAM Metallopeptidase Domain 8	Protein Coding	2
116	CAPN9	Calpain 9	Protein Coding	2
117	MMP24	Matrix Metallopeptidase 24	Protein Coding	2
118	ADAMTS8	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 8	Protein Coding	2
119	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	2
120	CAPN11	Calpain 11	Protein Coding	2
121	CAPN10	Calpain 10	Protein Coding	2
122	CMA1	Chymase 1	Protein Coding	2
123	CAPN12	Calpain 12	Protein Coding	2
124	CTRB1	Chymotrypsinogen B1	Protein Coding	2
125	CTSG	Cathepsin G	Protein Coding	2
126	DCN	Decorin	Protein Coding	2
127	ADAMTS16	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 16	Protein Coding	2
128	ADAMTS18	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18	Protein Coding	2
129	ACAN	Aggrecan	Protein Coding	2
130	A2M	Alpha-2-Macroglobulin	Protein Coding	2
131	ELN	Elastin	Protein Coding	2
132	FBN1	Fibrillin 1	Protein Coding	2
133	FBN2	Fibrillin 2	Protein Coding	2
134	SCUBE3	Signal Peptide, CUB Domain And EGF Like Domain Containing 3	Protein Coding	2
135	FN1	Fibronectin 1	Protein Coding	2
136	NCSTN	Nicastrin	Protein Coding	2
137	CAPN7	Calpain 7	Protein Coding	2
138	OPTC	Opticin	Protein Coding	2
139	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	2
140	CAPN8	Calpain 8	Protein Coding	2
141	LAMA5	Laminin Subunit Alpha 5	Protein Coding	2
142	LAMB1	Laminin Subunit Beta 1	Protein Coding	2
143	LAMC1	Laminin Subunit Gamma 1	Protein Coding	2
144	MMP16	Matrix Metallopeptidase 16	Protein Coding	2
145	MMP17	Matrix Metallopeptidase 17	Protein Coding	2
146	CTRB2	Chymotrypsinogen B2	Protein Coding	2
147	CAPN14	Calpain 14	Protein Coding	2
148	NID1	Nidogen 1	Protein Coding	2
149	SPOCK3	SPARC (Osteonectin), Cwcv And Kazal Like Domains Proteoglycan 3	Protein Coding	2
150	PLG	Plasminogen	Protein Coding	2
151	PRSS1	Serine Protease 1	Protein Coding	2
152	HTRA1	HtrA Serine Peptidase 1	Protein Coding	2
153	PSEN1	Presenilin 1	Protein Coding	2
154	ADAMTS9	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9	Protein Coding	2
155	BCAN	Brevican	Protein Coding	2
156	MMP25	Matrix Metallopeptidase 25	Protein Coding	2
157	CAPN15	Calpain 15	Protein Coding	2
158	SPP1	Secreted Phosphoprotein 1	Protein Coding	2
159	BSG	Basigin (Ok Blood Group)	Protein Coding	2
160	TIMP1	TIMP Metallopeptidase Inhibitor 1	Protein Coding	2
161	TIMP2	TIMP Metallopeptidase Inhibitor 2	Protein Coding	2
162	TPSAB1	Tryptase Alpha/Beta 1	Protein Coding	2
163	CAPN5	Calpain 5	Protein Coding	2
164	SCUBE1	Signal Peptide, CUB Domain And EGF Like Domain Containing 1	Protein Coding	2
165	CAPN1	Calpain 1	Protein Coding	2
166	CAPN2	Calpain 2	Protein Coding	2
167	CAPN3	Calpain 3	Protein Coding	2
168	CAPNS1	Calpain Small Subunit 1	Protein Coding	2
169	CAPN6	Calpain 6	Protein Coding	2
170	CAST	Calpastatin	Protein Coding	2
171	CAPNS2	Calpain Small Subunit 2	Protein Coding	2
172	FBN3	Fibrillin 3	Protein Coding	2
173	ADAM15	ADAM Metallopeptidase Domain 15	Protein Coding	2
174	CAPN13	Calpain 13	Protein Coding	2
175	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	2
176	ADAMTS1	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 1	Protein Coding	2
177	CD44	CD44 Molecule (IN Blood Group)	Protein Coding	2
178	F10	Coagulation Factor X	Protein Coding	2
179	F11	Coagulation Factor XI	Protein Coding	2
180	F12	Coagulation Factor XII	Protein Coding	2
181	F13A1	Coagulation Factor XIII A Chain	Protein Coding	2
182	F13B	Coagulation Factor XIII B Chain	Protein Coding	2
183	F2	Coagulation Factor II, Thrombin	Protein Coding	2
184	F5	Coagulation Factor V	Protein Coding	2
185	F8	Coagulation Factor VIII	Protein Coding	2
186	F9	Coagulation Factor IX	Protein Coding	2
187	KLK1	Kallikrein 1	Protein Coding	2
188	KLK10	Kallikrein Related Peptidase 10	Protein Coding	2
189	KLK11	Kallikrein Related Peptidase 11	Protein Coding	2
190	KLK12	Kallikrein Related Peptidase 12	Protein Coding	2
191	KLK13	Kallikrein Related Peptidase 13	Protein Coding	2
192	KLK14	Kallikrein Related Peptidase 14	Protein Coding	2
193	KLK15	Kallikrein Related Peptidase 15	Protein Coding	2
194	KLK3	Kallikrein Related Peptidase 3	Protein Coding	2
195	KLK4	Kallikrein Related Peptidase 4	Protein Coding	2
196	KLK5	Kallikrein Related Peptidase 5	Protein Coding	2
197	KLK6	Kallikrein Related Peptidase 6	Protein Coding	2
198	KLK8	Kallikrein Related Peptidase 8	Protein Coding	2
199	KLK9	Kallikrein Related Peptidase 9	Protein Coding	2
200	KNG1	Kininogen 1	Protein Coding	2
201	PROC	Protein C, Inactivator Of Coagulation Factors Va And VIIIa	Protein Coding	2
202	PROS1	Protein S	Protein Coding	2
203	SERPINC1	Serpin Family C Member 1	Protein Coding	2
204	THBD	Thrombomodulin	Protein Coding	2
205	LAMC3	Laminin Subunit Gamma 3	Protein Coding	1
206	FBLN5	Fibulin 5	Protein Coding	1
207	CEACAM8	CEA Cell Adhesion Molecule 8	Protein Coding	1
208	EMILIN1	Elastin Microfibril Interfacer 1	Protein Coding	1
209	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	1
210	SGCZ	Sarcoglycan Zeta	Protein Coding	1
211	HAPLN1	Hyaluronan And Proteoglycan Link Protein 1	Protein Coding	1
212	VCAN	Versican	Protein Coding	1
213	NCAN	Neurocan	Protein Coding	1
214	DAG1	Dystroglycan 1	Protein Coding	1
215	DMD	Dystrophin	Protein Coding	1
216	DMP1	Dentin Matrix Acidic Phosphoprotein 1	Protein Coding	1
217	DRP2	Dystrophin Related Protein 2	Protein Coding	1
218	DSPP	Dentin Sialophosphoprotein	Protein Coding	1
219	DTNA	Dystrobrevin Alpha	Protein Coding	1
220	DTNB	Dystrobrevin Beta	Protein Coding	1
221	FBLN1	Fibulin 1	Protein Coding	1
222	FBLN2	Fibulin 2	Protein Coding	1
223	EFEMP1	EGF-Like Fibulin Extracellular Matrix Protein 1	Protein Coding	1
224	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
225	NID2	Nidogen 2	Protein Coding	1
226	ITGA11	Integrin Subunit Alpha 11	Protein Coding	1
227	FMOD	Fibromodulin	Protein Coding	1
228	BMP10	Bone Morphogenetic Protein 10	Protein Coding	1
229	LAMA1	Laminin Subunit Alpha 1	Protein Coding	1
230	EFEMP2	EGF-Like Fibulin Extracellular Matrix Protein 2	Protein Coding	1
231	TNC	Tenascin C	Protein Coding	1
232	IBSP	Integrin Binding Sialoprotein	Protein Coding	1
233	ICAM1	Intercellular Adhesion Molecule 1	Protein Coding	1
234	ICAM2	Intercellular Adhesion Molecule 2	Protein Coding	1
235	ICAM3	Intercellular Adhesion Molecule 3	Protein Coding	1
236	ICAM4	Intercellular Adhesion Molecule 4 (Landsteiner-Wiener Blood Group)	Protein Coding	1
237	APP	Amyloid Beta Precursor Protein	Protein Coding	1
238	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
239	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
240	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	1
241	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
242	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
243	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
244	ITGA7	Integrin Subunit Alpha 7	Protein Coding	1
245	ITGA9	Integrin Subunit Alpha 9	Protein Coding	1
246	ITGAD	Integrin Subunit Alpha D	Protein Coding	1
247	ITGAE	Integrin Subunit Alpha E	Protein Coding	1
248	ITGAL	Integrin Subunit Alpha L	Protein Coding	1
249	ITGAM	Integrin Subunit Alpha M	Protein Coding	1
250	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
251	ITGAX	Integrin Subunit Alpha X	Protein Coding	1
252	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
253	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
254	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
255	ITGB5	Integrin Subunit Beta 5	Protein Coding	1
256	ITGB6	Integrin Subunit Beta 6	Protein Coding	1
257	ITGB7	Integrin Subunit Beta 7	Protein Coding	1
258	ITGB8	Integrin Subunit Beta 8	Protein Coding	1
259	AGRN	Agrin	Protein Coding	1
260	KDR	Kinase Insert Domain Receptor	Protein Coding	1
261	LAMA2	Laminin Subunit Alpha 2	Protein Coding	1
262	LAMA4	Laminin Subunit Alpha 4	Protein Coding	1
263	LAMB2	Laminin Subunit Beta 2	Protein Coding	1
264	LRP4	LDL Receptor Related Protein 4	Protein Coding	1
265	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	1
266	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	1
267	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	1
268	LUM	Lumican	Protein Coding	1
269	MATN1	Matrilin 1	Protein Coding	1
270	MATN3	Matrilin 3	Protein Coding	1
271	MFAP2	Microfibril Associated Protein 2	Protein Coding	1
272	MFAP3	Microfibril Associated Protein 3	Protein Coding	1
273	MFAP4	Microfibril Associated Protein 4	Protein Coding	1
274	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	1
275	CEACAM6	CEA Cell Adhesion Molecule 6	Protein Coding	1
276	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	1
277	DDR2	Discoidin Domain Receptor Tyrosine Kinase 2	Protein Coding	1
278	SERPINE1	Serpin Family E Member 1	Protein Coding	1
279	F11R	F11 Receptor	Protein Coding	1
280	TRAPPC4	Trafficking Protein Particle Complex Subunit 4	Protein Coding	1
281	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	1
282	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
283	PECAM1	Platelet And Endothelial Cell Adhesion Molecule 1	Protein Coding	1
284	SNTG2	Syntrophin Gamma 2	Protein Coding	1
285	ASPN	Asporin	Protein Coding	1
286	PRKCA	Protein Kinase C Alpha	Protein Coding	1
287	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	1
288	PTPRS	Protein Tyrosine Phosphatase Receptor Type S	Protein Coding	1
289	JAM2	Junctional Adhesion Molecule 2	Protein Coding	1
290	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
291	NTN4	Netrin 4	Protein Coding	1
292	ACTB	Actin Beta	Protein Coding	1
293	BGN	Biglycan	Protein Coding	1
294	CEACAM1	CEA Cell Adhesion Molecule 1	Protein Coding	1
295	SDC1	Syndecan 1	Protein Coding	1
296	SDC2	Syndecan 2	Protein Coding	1
297	SDC4	Syndecan 4	Protein Coding	1
298	TNN	Tenascin N	Protein Coding	1
299	SGCA	Sarcoglycan Alpha	Protein Coding	1
300	SGCB	Sarcoglycan Beta	Protein Coding	1
301	SGCD	Sarcoglycan Delta	Protein Coding	1
302	SGCG	Sarcoglycan Gamma	Protein Coding	1
303	BMP2	Bone Morphogenetic Protein 2	Protein Coding	1
304	BMP4	Bone Morphogenetic Protein 4	Protein Coding	1
305	BMP7	Bone Morphogenetic Protein 7	Protein Coding	1
306	SNTA1	Syntrophin Alpha 1	Protein Coding	1
307	SNTB1	Syntrophin Beta 1	Protein Coding	1
308	SNTB2	Syntrophin Beta 2	Protein Coding	1
309	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	1
310	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	1
311	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
312	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1
313	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	1
314	THBS1	Thrombospondin 1	Protein Coding	1
315	ICAM5	Intercellular Adhesion Molecule 5	Protein Coding	1
316	ACTG1	Actin Gamma 1	Protein Coding	1
317	TNR	Tenascin R	Protein Coding	1
318	TNXB	Tenascin XB	Protein Coding	1
319	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	1
320	TTR	Transthyretin	Protein Coding	1
321	UTRN	Utrophin	Protein Coding	1
322	VCAM1	Vascular Cell Adhesion Molecule 1	Protein Coding	1
323	VTN	Vitronectin	Protein Coding	1
324	VWF	Von Willebrand Factor	Protein Coding	1
325	DDR1	Discoidin Domain Receptor Tyrosine Kinase 1	Protein Coding	1
326	ADAM12	ADAM Metallopeptidase Domain 12	Protein Coding	1
327	MFAP5	Microfibril Associated Protein 5	Protein Coding	1
328	SSPN	Sarcospan	Protein Coding	1
329	MADCAM1	Mucosal Vascular Addressin Cell Adhesion Molecule 1	Protein Coding	1
330	GDF5	Growth Differentiation Factor 5	Protein Coding	1
331	JAM3	Junctional Adhesion Molecule 3	Protein Coding	1
332	EMILIN2	Elastin Microfibril Interfacer 2	Protein Coding	1
333	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	1
334	ITGA10	Integrin Subunit Alpha 10	Protein Coding	1
335	ITGA8	Integrin Subunit Alpha 8	Protein Coding	1
336	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	1
337	ACTN1	Actinin Alpha 1	Protein Coding	1
338	ADAM19	ADAM Metallopeptidase Domain 19	Protein Coding	1
339	MATN4	Matrilin 4	Protein Coding	1
340	SGCE	Sarcoglycan Epsilon	Protein Coding	1
341	EMILIN3	Elastin Microfibril Interfacer 3	Protein Coding	1
342	NRXN1	Neurexin 1	Protein Coding	1
343	CD47	CD47 Molecule	Protein Coding	1
344	SH3PXD2A	SH3 And PX Domains 2A	Protein Coding	1
345	SDC3	Syndecan 3	Protein Coding	1
346	F3	Coagulation Factor III, Tissue Factor	Protein Coding	1
347	F7	Coagulation Factor VII	Protein Coding	1
348	TFPI	Tissue Factor Pathway Inhibitor	Protein Coding	1

Disorders associated with Collagen chain trimerization SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Stickler syndrome	Enrichment	COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3	11.50
2	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, BGN, COL1A1, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, LOX, MFAP5, PLOD1, TGFB2, TGFB3	11.43
3	Osteogenesis imperfecta, type iii	Enrichment	BMP1, COL1A1, COL1A2, CRTAP, P3H1, PPIB, SERPINH1	10.88
4	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	COL17A1, ITGB4, LAMA3, LAMB3, LAMC2	10.61
5	Junctional epidermolysis bullosa non-herlitz type	Enrichment	COL17A1, ITGB4, LAMA3, LAMB3, LAMC2	10.61
6	Junctional epidermolysis bullosa	Enrichment	COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2	10.51
7	Brittle bone disorder	Enrichment	BMP1, COL1A1, COL1A2, CRTAP, P3H1, PLOD2, PPIB	10.29
8	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2, CRTAP, P3H1, PPIB	10.11
9	Bethlem muscular dystrophy	Enrichment	COL12A1, COL6A1, COL6A2, COL6A3	9.93
10	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN2, PLOD1, TGFB2, TNXB	9.77
11	Autosomal recessive stickler syndrome	Enrichment	COL9A1, COL9A2, COL9A3, LOXL3	9.44
12	Ullrich congenital muscular dystrophy 1a	Enrichment	COL12A1, COL6A1, COL6A2, COL6A3	9.31
13	Connective tissue disease	Enrichment	COL11A1, COL12A1, COL2A1, COL5A1, COL9A1, COL9A3	9.16
14	High bone mass osteogenesis imperfecta	Enrichment	BMP1, COL1A1, COL1A2	8.96
15	Digenic alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	8.96
16	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	8.84
17	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	8.84
18	Keratoconus	Enrichment	COL1A1, COL4A1, COL5A2, PLOD1	8.09
19	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A3, COL4A4, COL4A5	7.96
20	Autosomal dominant alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	7.96
21	Alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	7.96
22	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3, LAMB3, LAMC2	7.66
23	Thrombophilia due to thrombin defect	Enrichment	F13A1, F13B, F2, FGA	7.57
24	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Enrichment	COL9A1, COL9A2, COL9A3	7.50
25	Collagen vi-related dystrophies	Enrichment	COL6A1, COL6A2, COL6A3	7.50
26	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	7.50
27	Skin disease	Enrichment	COL17A1, COL7A1, ITGB4, LAMB3, LAMC2	7.45
28	Dysfibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	6.83
29	Familial dysfibrinogenemia	Enrichment	FGA, FGB, FGG	6.83
30	Familial hypofibrinogenemia	Enrichment	FGA, FGB, FGG	6.83
31	Thrombocytopenia	Enrichment	F10, F11, F8, FGG, PROS1, THBD	6.69
32	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2, CRTAP, PPIB	6.43
33	Kidney disease	Enrichment	COL4A3, COL4A4, COL4A5	6.31
34	Afibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	6.22
35	Myopia	Enrichment	COL11A1, COL2A1, COL4A4, P3H2	6.15
36	Epidermolysis bullosa	Enrichment	COL7A1, ITGA6, LAMB3	6.09
37	Bethlem myopathy 1a	Enrichment	COL6A1, COL6A2, COL6A3	5.96
38	Intervertebral disc disease	Enrichment	COL11A1, COL9A2, COL9A3	5.96
39	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	5.94
40	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	5.94
41	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A5, COL4A6	5.94
42	Familial porencephaly	Enrichment	COL4A1, COL4A2, COLGALT1	5.94
43	Marfan syndrome	Enrichment	COL2A1, FBN1, FBN2, LTBP2, TGFB2	5.80
44	Cerebral palsy	Enrichment	COL4A1, COL4A2, F2, F8, PROC	5.71
45	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2, P4HB	5.64
46	Hematuria, benign familial, 1	Enrichment	COL4A3, COL4A4	5.47
47	Cutis laxa	Enrichment	COL5A1, EFEMP1, EFEMP2, LOX, LTBP4	5.32
48	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	5.16
49	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	5.16
50	Alport syndrome 2, autosomal recessive	Enrichment	COL4A3, COL4A4	5.16
51	Autosomal recessive alport syndrome	Enrichment	COL4A3, COL4A4	5.16
52	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	5.16
53	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL11A2, COL2A1	4.99
54	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL11A2, COL2A1	4.99
55	Fibrochondrogenesis	Enrichment	COL11A1, COL11A2	4.99
56	Stickler syndrome, type ii	Enrichment	COL11A1, COL1A1	4.99
57	Primary bone dysplasia	Enrichment	COL1A1, COL1A2, CTSK	4.93
58	Muscular dystrophy, duchenne type	Enrichment	DMD, LTBP4, UTRN	4.89
59	Autosomal recessive cutis laxa type i	Enrichment	EFEMP2, FBLN5, LTBP1	4.89
60	Nephrotic syndrome	Enrichment	COL4A3, COL4A4, COL4A5	4.88
61	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2, CTSK	4.79
62	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	4.77
63	Amelogenesis imperfecta, type ia	Enrichment	COL17A1, LAMB3	4.72
64	Metaphyseal anadysplasia	Enrichment	MMP13, MMP9	4.72
65	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	COL17A1, ITGB4	4.72
66	Recessive dystrophic epidermolysis bullosa	Enrichment	COL7A1, MMP1	4.66
67	Hemophilia b	Enrichment	F8, F9	4.54
68	Factor xiii deficiency	Enrichment	F13A1, F13B	4.54
69	Telecanthus	Enrichment	COL11A1, COL5A2	4.51
70	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A1, COL5A2	4.51
71	Myopathy	Enrichment	ACTA1, CAPN3, COL6A1, COL6A2, COL6A3, DMD, FBN1	4.46
72	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	CAPN3, SGCA, SGCB, SGCD, SGCG	4.22
73	Multicentric osteolysis, nodulosis, and arthropathy	Enrichment	MMP14, MMP2	4.18
74	Cole-carpenter syndrome	Enrichment	CRTAP, P4HB	4.14
75	Hypertension	Enrichment	COL4A4, COL4A5, F12	4.10
76	Factor x deficiency	Enrichment	F10, F11	4.07
77	Cerebral sinovenous thrombosis	Enrichment	F2, F5	4.07
78	Congenital factor x deficiency	Enrichment	F10, F11	4.07
79	Chronic kidney disease	Enrichment	COL4A4, COL4A5	4.05
80	Retinal detachment	Enrichment	COL2A1, COL9A3	3.99
81	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	3.99
82	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	3.99
83	Aortic dissection	Enrichment	COL3A1, FBN1	3.99
84	Osteoporosis	Enrichment	COL1A1, COL1A2	3.99
85	Postsynaptic congenital myasthenic syndromes	Enrichment	AGRN, COL13A1, LRP4, MUSK	3.90
86	Hemophilia a	Enrichment	F8, F9	3.77
87	Factor viii deficiency	Enrichment	F8, F9	3.77
88	Anterior segment dysgenesis	Enrichment	COL4A1, PXDN	3.76
89	Muscular dystrophy	Enrichment	CAPN3, COL6A2, DMD, SGCA, SGCD	3.69
90	Focal segmental glomerulosclerosis	Enrichment	COL4A4, COL4A5	3.67
91	Inguinal hernia	Enrichment	COL5A1, EFEMP1, FBN1	3.62
92	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	3.62
93	Multiple sclerosis	Enrichment	DST, ITGB4, LAMA5, LAMB1	3.61
94	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4	3.54
95	Contractural arachnodactyly, congenital	Enrichment	FBN1, FBN2	3.51
96	Mccune-albright syndrome	Enrichment	COL2A1, FBN1	3.51
97	Creatine phosphokinase, elevated serum	Enrichment	CAPN3, DAG1, DMD, LAMA2	3.36
98	Isolated elevated serum creatine phosphokinase levels	Enrichment	CAPN3, DAG1, DMD, LAMA2	3.36
99	Acromicric dysplasia	Enrichment	FBN1, LTBP3	3.26
100	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1, COMP	3.26
101	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1, TNXB	3.26
102	Dermatofibrosarcoma protuberans	Enrichment	COL1A1, PDGFB	3.26
103	Preterm premature rupture of the membranes	Enrichment	MMP8, SERPINH1	3.26
104	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	3.26
105	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	3.26
106	Dentinogenesis imperfecta	Enrichment	COL1A2, DSPP	3.26
107	Malignant peripheral nerve sheath tumor with perineurial differentiation	Enrichment	HTRA1, SH3PXD2A	3.26
108	Malignant triton tumor	Enrichment	HTRA1, SH3PXD2A	3.26
109	Dilated cardiomyopathy	Enrichment	ACTA1, ACTC1, DMD, DTNA, FBN1, LAMA2, SGCB, SGCD	3.25
110	Orthostatic intolerance	Enrichment	COL5A1, FBN1, PLOD1	3.18
111	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1, LOX	3.17
112	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1, FGG	3.11
113	Amelogenesis imperfecta, type ie	Enrichment	COL17A1, LAMB3	3.07
114	Cataract	Enrichment	COL18A1, COL5A1	3.04
115	Loeys-dietz syndrome	Enrichment	FBN1, TGFB2, TGFB3	3.02
116	Epidermolysis bullosa dystrophica, pretibial	Enrichment	COL7A1	2.96
117	Epidermolysis bullosa dystrophica, autosomal dominant	Enrichment	COL7A1	2.96
118	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.96
119	Epidermolysis bullosa dystrophica, autosomal recessive	Enrichment	COL7A1	2.96
120	Alport syndrome 1, x-linked	Enrichment	COL4A5	2.96
121	Nail disorder, nonsyndromic congenital, 8	Enrichment	COL7A1	2.96
122	Transient bullous dermolysis of the newborn	Enrichment	COL7A1	2.96
123	Epidermolysis bullosa with congenital localized absence of skin and deformity of nails	Enrichment	COL7A1	2.96
124	Deafness, x-linked 6	Enrichment	COL4A6	2.96
125	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.96
126	Porencephaly	Enrichment	COL4A1	2.96
127	Epidermolysis bullosa pruriginosa	Enrichment	COL7A1	2.96
128	Thyroid gland disease	Enrichment	COL7A1	2.96
129	Atrial septal defect, ostium primum type	Enrichment	TLL1	2.96
130	Recessive dystrophic epidermolysis bullosa-generalized other	Enrichment	COL7A1	2.96
131	Asphyxia neonatorum	Enrichment	COL1A1	2.96
132	Col4a1-related disorders	Enrichment	COL4A1	2.96
133	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	2.96
134	X-linked alport syndrome	Enrichment	COL4A5	2.96
135	Localized dystrophic epidermolysis bullosa, acral form	Enrichment	COL7A1	2.96
136	Recessive dystrophic epidermolysis bullosa inversa	Enrichment	COL7A1	2.96
137	Generalized dominant dystrophic epidermolysis bullosa	Enrichment	COL7A1	2.96
138	Stroke, ischemic	Enrichment	F2, F5	2.90
139	Autosomal dominant macrothrombocytopenia	Enrichment	ACTN1, ITGA2B, ITGB3	2.87
140	Amelogenesis imperfecta	Enrichment	COL17A1, LAMB3	2.84
141	Beckwith-wiedemann syndrome	Enrichment	COL6A1, COL7A1	2.82
142	Heart, malformation of	Enrichment	COL11A2, COL2A1	2.82
143	Exfoliation syndrome	Enrichment	LOXL1, LTBP2	2.79
144	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	2.79
145	Weill-marchesani syndrome 1	Enrichment	FBN1, LTBP2	2.79
146	Autosomal dominant cutis laxa	Enrichment	ELN, FBLN5	2.79
147	Geleophysic dysplasia	Enrichment	FBN1, LTBP3	2.79
148	Multiple epiphyseal dysplasia	Enrichment	COL2A1, COMP	2.79
149	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1, LOX	2.77
150	Scoliosis	Enrichment	COL2A1, CTSK, FBN1	2.75
151	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	COL5A1, PLOD2	2.74
152	Clubfoot	Enrichment	COL5A1, PLOD2	2.74
153	Presynaptic congenital myasthenic syndromes	Enrichment	AGRN, COL13A1, LAMA5	2.74
154	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	2.66
155	Bruck syndrome 1	Enrichment	COL1A2	2.66
156	Specific language impairment 5	Enrichment	COL4A4	2.66
157	Osteogenesis imperfecta, type xiii	Enrichment	BMP1	2.66
158	Atrial septal defect 6	Enrichment	TLL1	2.66
159	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	2.66
160	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	2.66
161	Epidermolysis bullosa, junctional 3b, severe	Enrichment	LAMC2	2.66
162	Epidermolysis bullosa, junctional 3a, intermediate	Enrichment	LAMC2	2.66
163	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	2.66
164	Glomerulonephritis	Enrichment	COL4A4	2.66
165	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	2.66
166	Epidermolysis bullosa dystrophica	Enrichment	COL7A1	2.66
167	Anterior segment dysgenesis 7	Enrichment	PXDN	2.58
168	Myopia 28, autosomal recessive	Enrichment	LOXL3	2.58
169	Aortic aneurysm, familial thoracic 10	Enrichment	LOX	2.58
170	Intellectual developmental disorder, autosomal dominant 39	Enrichment	PXDN	2.58
171	Brachydactyly, type a2	Enrichment	BMP2, GDF5	2.50
172	Weill-marchesani syndrome	Enrichment	FBN1, LTBP2	2.50
173	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB, SERPINE1	2.50
174	Stickler syndrome, type i	Enrichment	COL2A1	2.49
175	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.49
176	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.49
177	Deafness, autosomal recessive 53	Enrichment	COL11A2	2.49
178	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.49
179	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.49
180	Czech dysplasia	Enrichment	COL2A1	2.49
181	Corneal dystrophy, posterior polymorphous, 2	Enrichment	COL8A2	2.49
182	Marshall syndrome	Enrichment	COL11A1	2.49
183	Kniest dysplasia	Enrichment	COL2A1	2.49
184	Corneal dystrophy, fuchs endothelial, 1	Enrichment	COL8A2	2.49
185	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.49
186	Fibrochondrogenesis 1	Enrichment	COL11A1	2.49
187	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.49
188	Acrogeria, gottron type	Enrichment	COL3A1	2.49
189	Epiphyseal dysplasia, multiple, 6	Enrichment	COL9A1	2.49
190	Achondrogenesis, type ii	Enrichment	COL2A1	2.49
191	Myasthenic syndrome, congenital, 19	Enrichment	COL13A1	2.49
192	Epiphyseal dysplasia, multiple, 2	Enrichment	COL9A2	2.49
193	Ullrich congenital muscular dystrophy 1b	Enrichment	COL6A2	2.49
194	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.49
195	Myosclerosis, autosomal recessive	Enrichment	COL6A2	2.49
196	Ullrich congenital muscular dystrophy 1c	Enrichment	COL6A3	2.49
197	Deafness, autosomal dominant 37	Enrichment	COL11A1	2.49
198	Epiphyseal dysplasia, multiple, 3	Enrichment	COL9A3	2.49
199	Deafness, autosomal dominant 13	Enrichment	COL11A2	2.49
200	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.49
201	Stickler syndrome, type iv	Enrichment	COL9A1	2.49
202	Fibrochondrogenesis 2	Enrichment	COL11A2	2.49
203	Dystonia 27	Enrichment	COL6A3	2.49
204	Stickler syndrome, type v	Enrichment	COL9A2	2.49
205	Qualitative or quantitative defects of collagen 6	Enrichment	COL6A2	2.49
206	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.49
207	Bethlem myopathy 1b	Enrichment	COL6A2	2.49
208	Fibrosis of extraocular muscles, congenital, 5	Enrichment	COL25A1	2.49
209	Late-onset junctional epidermolysis bullosa	Enrichment	COL17A1	2.49
210	Bethlem myopathy 1c	Enrichment	COL6A3	2.49
211	Retinal lattice degeneration	Enrichment	COL9A3	2.49
212	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.49
213	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.49
214	Hypochondrogenesis	Enrichment	COL2A1	2.49
215	Pneumothorax	Enrichment	COL5A1	2.49
216	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Enrichment	COL11A1	2.49
217	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.49
218	Cystic lymphangioma	Enrichment	COL11A2	2.49
219	Abdominal aortic aneurysm	Enrichment	COL3A1	2.49
220	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.49
221	Retinal arteries, tortuosity of	Enrichment	COL4A1	2.48
222	Nail disorder, nonsyndromic congenital, 4	Enrichment	COL7A1	2.48
223	Caffey disease	Enrichment	COL1A1	2.48
224	Brain small vessel disease 2	Enrichment	COL4A2	2.48
225	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	2.48
226	Pilarowski-bjornsson syndrome	Enrichment	COL4A3	2.48
227	Alport syndrome 3b, autosomal recessive	Enrichment	COL4A3	2.48
228	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	2.48
229	Hematuria, benign familial, 2	Enrichment	COL4A3	2.48
230	Hyperpigmentation of the skin	Enrichment	COL7A1	2.48
231	Stargardt disease 1	Enrichment	COL18A1, COL2A1	2.37
232	Phenylketonuria	Enrichment	COL1A1	2.35
233	Schizencephaly	Enrichment	COL4A1	2.35
234	Epidermolytic hyperkeratosis	Enrichment	COL7A1	2.35
235	Rare x-linked non-syndromic sensorineural deafness type dfn	Enrichment	COL4A6	2.35
236	Keratolytic winter erythema	Enrichment	CTSB	2.35
237	Raph blood group system	Enrichment	CD151	2.35
238	Epidermolysis bullosa simplex 7, with nephropathy and deafness	Enrichment	CD151	2.35
239	Coronary heart disease 6	Enrichment	MMP3	2.35
240	Iron-refractory iron deficiency anemia	Enrichment	TMPRSS6	2.33
241	Pycnodysostosis	Enrichment	CTSK	2.33
242	Cone-rod dystrophy 9	Enrichment	ADAM9	2.33
243	Cavitary optic disc anomalies	Enrichment	MMP19	2.33
244	Phosphohydroxylysinuria	Enrichment	PHYKPL	2.33
245	Ceroid lipofuscinosis, neuronal, 10	Enrichment	CTSD	2.33
246	Winchester syndrome	Enrichment	MMP14	2.33
247	Alzheimer disease 18	Enrichment	ADAM10	2.33
248	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	2.33
249	Cole-carpenter syndrome 1	Enrichment	P4HB	2.31
250	Myopia 25, autosomal dominant	Enrichment	P4HA2	2.31
251	Osteogenesis imperfecta, type x	Enrichment	SERPINH1	2.31
252	Hennekam lymphangiectasia-lymphedema syndrome 3	Enrichment	ADAMTS3	2.31
253	Brain small vessel disease 3	Enrichment	COLGALT1	2.31
254	Bcard syndrome	Enrichment	PLOD3	2.31
255	Omphalocele	Enrichment	PLOD1	2.31
256	Ventricular septal defect 1	Enrichment	BMP2, BMP7	2.28
257	Juvenile glaucoma	Enrichment	EFEMP1, LTBP2	2.28
258	3-methylglutaconic aciduria, type viii	Enrichment	LOXL3	2.28
259	Thrombophilia due to protein c deficiency, autosomal dominant	Enrichment	PROC	2.27
260	High molecular weight kininogen deficiency	Enrichment	KNG1	2.27
261	Thrombophilia, x-linked, due to factor viii defect	Enrichment	F8	2.27
262	Warfarin sensitivity, x-linked	Enrichment	F9	2.27
263	Angioedema, hereditary, 3	Enrichment	F12	2.27
264	Prekallikrein deficiency	Enrichment	KLKB1	2.27
265	Hemolytic uremic syndrome, atypical 6	Enrichment	THBD	2.27
266	Prothrombin deficiency, congenital	Enrichment	F2	2.27
267	Thrombophilia due to protein s deficiency, autosomal dominant	Enrichment	PROS1	2.27
268	Factor v deficiency	Enrichment	F5	2.27
269	Amelogenesis imperfecta, hypomaturation type, iia1	Enrichment	KLK4	2.27
270	Thrombophilia due to protein s deficiency, autosomal recessive	Enrichment	PROS1	2.27
271	Thrombophilia due to activated protein c resistance	Enrichment	F5	2.27
272	Thrombophilia, x-linked, due to factor ix defect	Enrichment	F9	2.27
273	Angioedema, hereditary, 6	Enrichment	KNG1	2.27
274	Thrombophilia due to protein c deficiency, autosomal recessive	Enrichment	PROC	2.27
275	Antithrombin iii deficiency	Enrichment	SERPINC1	2.27
276	Factor xiii, b subunit, deficiency of	Enrichment	F13B	2.27
277	Thrombophilia due to thrombomodulin defect	Enrichment	THBD	2.27
278	Factor xiii, a subunit, deficiency of	Enrichment	F13A1	2.27
279	Pregnancy loss, recurrent 2	Enrichment	F2	2.27
280	Protein s deficiency	Enrichment	PROS1	2.27
281	Factor v atlanta bleeding disorder	Enrichment	F5	2.27
282	Ichthyosis with erythrokeratoderma	Enrichment	KLK11	2.27
283	Congenital fibrinogen deficiency	Enrichment	FGG	2.27
284	Amelogenesis imperfecta type 2a1	Enrichment	KLK4	2.27
285	Factor v leiden thrombophilia	Enrichment	F5	2.27
286	Prothrombin deficiency	Enrichment	F2	2.27
287	Severe hereditary thrombophilia due to congenital protein c deficiency	Enrichment	PROC	2.27
288	Protein c deficiency	Enrichment	PROC	2.27
289	Urticaria	Enrichment	F12	2.27
290	Hemophilia b leyden	Enrichment	F9	2.27
291	Factor v amsterdam bleeding disorder	Enrichment	F5	2.27
292	Hereditary thrombophilia due to congenital protein s deficiency	Enrichment	PROS1	2.27
293	F12-associated cold autoinflammatory syndrome	Enrichment	F12	2.27
294	Inherited prekallikrein deficiency	Enrichment	KLKB1	2.27
295	Epidermolytic hyperkeratosis 1	Enrichment	COL7A1	2.26
296	Factor vii deficiency	Enrichment	F7	2.25
297	Congenital factor vii deficiency	Enrichment	F7	2.25
298	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	2.19
299	Amelogenesis imperfecta, type ib	Enrichment	COL17A1	2.19
300	Metaphyseal chondrodysplasia, schmid type	Enrichment	COL10A1	2.19
301	Legg-calve-perthes disease	Enrichment	COL2A1	2.19
302	Epithelial recurrent erosion dystrophy	Enrichment	COL17A1	2.19
303	Epidermolysis bullosa, junctional 4, intermediate	Enrichment	COL17A1	2.19
304	Stickler syndrome, type vi	Enrichment	COL9A3	2.19
305	Fibromuscular dysplasia, multifocal	Enrichment	COL5A1	2.19
306	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	2.19
307	Glaucoma, primary closed-angle	Enrichment	COL18A1	2.19
308	Steel syndrome	Enrichment	COL27A1	2.19
309	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	2.19
310	Cataract 16, multiple types	Enrichment	COL12A1	2.19
311	Anterior segment dysgenesis 5	Enrichment	COL4A1	2.18
312	Myocardial infarction	Enrichment	F13A1, F7	2.18
313	Nevus, epidermal	Enrichment	COL7A1	2.11
314	Atrial septal defect 1	Enrichment	BMP2, TGFB2	2.11
315	Familial isolated dilated cardiomyopathy	Enrichment	ACTC1, DMD, LAMA4, PSEN1, SGCD	2.11
316	Microcephaly	Enrichment	COL4A1, COL7A1	2.10
317	Metaphyseal dysplasia, spahr type	Enrichment	MMP13	2.05
318	Spondyloepimetaphyseal dysplasia, missouri type	Enrichment	MMP13	2.05
319	Amelogenesis imperfecta, hypomaturation type, iia2	Enrichment	MMP20	2.05
320	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	2.05
321	Metaphyseal anadysplasia 2	Enrichment	MMP9	2.05
322	Glaucoma 3, primary congenital, a	Enrichment	PXDN	2.03
323	Cyclic neutropenia	Enrichment	ELANE	2.03
324	Neutropenia, severe congenital, x-linked	Enrichment	ELANE	2.03
325	Microcytic anemia	Enrichment	TMPRSS6	2.03
326	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	2.03
327	Palmoplantar keratoderma, punctate type ia	Enrichment	COL14A1	2.01
328	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	2.01
329	Megalocornea	Enrichment	COL11A1	2.01
330	Hypophosphatasia, infantile	Enrichment	COL11A2	2.01
331	Ullrich congenital muscular dystrophy 2	Enrichment	COL12A1	2.01
332	Bethlem myopathy 2	Enrichment	COL12A1	2.01
333	Osteogenesis imperfecta, type ix	Enrichment	PPIB	2.01
334	Osteogenesis imperfecta, type vii	Enrichment	CRTAP	2.01
335	Bruck syndrome 2	Enrichment	PLOD2	2.01
336	Osteogenesis imperfecta, type viii	Enrichment	P3H1	2.01
337	Ehlers-danlos syndrome, dermatosparaxis type	Enrichment	ADAMTS2	2.01
338	Myopia, high, with cataract and vitreoretinal degeneration	Enrichment	P3H2	2.01
339	Short femur	Enrichment	PLOD2	2.01
340	Bruck syndrome	Enrichment	PLOD2	2.01
341	Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans	Enrichment	ACAN	1.99
342	Ectopia lentis 1, isolated, autosomal dominant	Enrichment	FBN1	1.99
343	Macular degeneration, age-related, 7	Enrichment	HTRA1	1.99
344	Acne inversa, familial, 1	Enrichment	NCSTN	1.99
345	Lissencephaly 5	Enrichment	LAMB1	1.99
346	Weill-marchesani syndrome 2	Enrichment	FBN1	1.99
347	Geleophysic dysplasia 2	Enrichment	FBN1	1.99
348	Protrusio acetabuli	Enrichment	FBN1	1.99
349	Vitreoretinopathy, neovascular inflammatory	Enrichment	CAPN5	1.99
350	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2	Enrichment	HTRA1	1.99
351	Angioedema, hereditary, 4	Enrichment	PLG	1.99
352	Microcornea, myopic chorioretinal atrophy, and telecanthus	Enrichment	ADAMTS18	1.99
353	Macular degeneration, early-onset	Enrichment	FBN2	1.99
354	Nephrotic syndrome, type 26	Enrichment	LAMA5	1.99
355	Pulmonary hypertension, primary, 6	Enrichment	CAPNS1	1.99
356	Lymphoplasmacytic lymphoma	Enrichment	FBN1	1.99
357	Spondyloepimetaphyseal dysplasia, aggrecan type	Enrichment	ACAN	1.99
358	Spondyloepiphyseal dysplasia, kimberley type	Enrichment	ACAN	1.99
359	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	1.99
360	Acne inversa, familial, 3	Enrichment	PSEN1	1.99
361	Oculogastrointestinal neurodevelopmental syndrome	Enrichment	CAPN15	1.99
362	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	1.99
363	Polycystic ovary syndrome	Enrichment	CAPN10	1.99
364	Progressive muscular atrophy	Enrichment	CAPN3	1.99
365	Kuhnt-junius degeneration	Enrichment	HTRA1	1.99
366	Osteochondritis dissecans	Enrichment	ACAN	1.99
367	Htra1 disorder	Enrichment	HTRA1	1.99
368	Neonatal marfan syndrome	Enrichment	FBN1	1.99
369	Htra1-related autosomal dominant cerebral small vessel disease	Enrichment	HTRA1	1.99
370	Qualitative or quantitative defects of calpain	Enrichment	CAPN3	1.99
371	Pash syndrome	Enrichment	NCSTN	1.99
372	Lama5-related multisystemic syndrome	Enrichment	LAMA5	1.99
373	Short stature-advanced bone age-early-onset osteoarthritis syndrome	Enrichment	ACAN	1.99
374	Htra1-related cerebral small vessel disease	Enrichment	HTRA1	1.99
375	Sensorineural hearing loss	Enrichment	COL11A2, COL9A1	1.98
376	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	1.97
377	Early-onset autosomal dominant alzheimer disease	Enrichment	APP, PSEN1	1.97
378	Kallikrein, decreased urinary activity of	Enrichment	KLK1	1.97
379	Cholesteatoma, congenital	Enrichment	F13B	1.97
380	Factor xii deficiency	Enrichment	F12	1.97
381	Bleeding disorder, east texas type	Enrichment	F5	1.97
382	Factor xi deficiency	Enrichment	F11	1.97
383	Surfactant metabolism dysfunction, pulmonary, 3	Enrichment	F8	1.97
384	Hereditary angioedema	Enrichment	F12	1.97
385	Cholesteatoma	Enrichment	F13B	1.97
386	Angioedema	Enrichment	F12	1.97
387	Peters-plus syndrome	Enrichment	COL4A1	1.96
388	Hereditary retinal dystrophy	Enrichment	ADAM9, COL11A2, COL18A1, COL2A1, COL9A1	1.93
389	Fundus dystrophy	Enrichment	ADAM9, COL11A2, COL18A1, COL2A1, COL9A1	1.93
390	Ichthyosis	Enrichment	COL7A1	1.92
391	Hypertelorism	Enrichment	COL11A1, COL1A1	1.91
392	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	COL11A1, COL11A2	1.91
393	Pancreatitis, hereditary	Enrichment	PRSS1, PRSS2	1.90
394	Arthrogryposis multiplex congenita 2, neurogenic type	Enrichment	COL25A1	1.89
395	Corneal dystrophy	Enrichment	COL17A1	1.89
396	Knobloch syndrome	Enrichment	COL18A1	1.89
397	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency	Enrichment	DST	1.88
398	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.88
399	Basal ganglia calcification, idiopathic, 1	Enrichment	JAM2, PDGFB	1.85
400	Congenital muscular dystrophy	Enrichment	CAPN3, LAMA2	1.85
401	Neutropenia, severe congenital, 1, autosomal dominant	Enrichment	ELANE	1.85
402	Nail disorder, nonsyndromic congenital, 9	Enrichment	CTSK	1.85
403	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	1.85
404	Cleft soft palate	Enrichment	PLOD2	1.83
405	Ehlers-danlos syndrome, kyphoscoliotic type, 1	Enrichment	PLOD1	1.83
406	Umbilical hernia	Enrichment	PLOD1	1.83
407	Hennekam syndrome	Enrichment	ADAMTS3	1.83
408	Plod1-related kyphoscoliotic ehlers-danlos syndrome	Enrichment	PLOD1	1.83
409	Walker-warburg syndrome	Enrichment	COL4A1	1.81
410	Isolated macular dystrophy	Enrichment	COL4A5	1.81
411	Angioedema, hereditary, 1	Enrichment	F12	1.79
412	Knobloch syndrome 1	Enrichment	COL18A1	1.79
413	Fuchs' endothelial dystrophy	Enrichment	COL8A2	1.79
414	Congenital ptosis	Enrichment	COL25A1	1.79
415	Familial cerebral saccular aneurysm	Enrichment	COL3A1	1.79
416	Corpus callosum, agenesis of	Enrichment	COL4A1	1.78
417	Atypical hemolytic-uremic syndrome	Enrichment	COL4A5	1.78
418	Isolated corpus callosum agenesis	Enrichment	COL4A1	1.78
419	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	COL4A1	1.78
420	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.76
421	Neuropathy, hereditary sensory and autonomic, type vi	Enrichment	DST	1.76
422	Dowling-degos disease 1	Enrichment	ADAM10	1.73
423	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.71
424	Corneal dystrophy, posterior polymorphous, 1	Enrichment	COL8A2	1.71
425	Congenital fibrosis of the extraocular muscles	Enrichment	COL25A1	1.71
426	Pain disorder	Enrichment	COL5A1	1.71
427	Temporal arteritis	Enrichment	P4HA2	1.71
428	Patent foramen ovale	Enrichment	TLL1	1.70
429	Polycystic kidney disease	Enrichment	COL4A4	1.70
430	Cutis laxa, autosomal dominant 1	Enrichment	ELN	1.69
431	Plasminogen deficiency, type i	Enrichment	PLG	1.69
432	Stiff skin syndrome	Enrichment	FBN1	1.69
433	Alzheimer disease 3	Enrichment	PSEN1	1.69
434	Pick disease of brain	Enrichment	PSEN1	1.69
435	Corneal dystrophy, congenital stromal	Enrichment	DCN	1.69
436	Lissencephaly 1	Enrichment	LAMB1	1.69
437	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	Enrichment	CAST	1.69
438	Beaulieu-boycott-innes syndrome	Enrichment	FBN1	1.69
439	Schwartz-jampel syndrome, type 1	Enrichment	HSPG2	1.69
440	Spastic paraplegia 76, autosomal recessive	Enrichment	CAPN1	1.69
441	Supravalvular aortic stenosis	Enrichment	ELN	1.69
442	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	Enrichment	SCUBE3	1.69
443	Marfanoid-progeroid-lipodystrophy syndrome	Enrichment	FBN1	1.69
444	Trypsinogen deficiency	Enrichment	PRSS1	1.69
445	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Enrichment	HTRA1	1.69
446	Lens subluxation	Enrichment	FBN1	1.69
447	Budd-chiari syndrome	Enrichment	F5	1.67
448	Pregnancy loss, recurrent 1	Enrichment	F5	1.67
449	Hereditary angioedema with normal c1inh not related to f12 or plg variant	Enrichment	KNG1	1.67
450	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	1.66
451	Aplasia cutis congenita	Enrichment	ITGB4	1.66
452	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.65
453	Hepatoblastoma	Enrichment	COL7A1	1.64
454	Autosomal dominant severe congenital neutropenia	Enrichment	ELANE	1.63
455	Blood group system, landsteiner-wiener	Enrichment	ICAM4	1.63
456	Carpal tunnel syndrome 1	Enrichment	TTR	1.63
457	Bladder diverticulum	Enrichment	EFEMP1	1.63
458	Hyperthyroxinemia, dystransthyretinemic	Enrichment	TTR	1.63
459	Cutis laxa, autosomal recessive, type ia	Enrichment	FBLN5	1.63
460	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Enrichment	LTBP2	1.63
461	Pseudoachondroplasia	Enrichment	COMP	1.63
462	Hyperopia, high	Enrichment	NRXN1	1.63
463	Hypophosphatemic rickets, autosomal recessive, 1	Enrichment	DMP1	1.63
464	Von willebrand disease, type 1	Enrichment	VWF	1.63
465	Baraitser-winter syndrome 1	Enrichment	ACTB	1.63
466	Muscular dystrophy, limb-girdle, autosomal recessive 6	Enrichment	SGCD	1.63
467	Systemic lupus erythematosus 6	Enrichment	ITGAM	1.63
468	Muscular dystrophy, becker type	Enrichment	DMD	1.63
469	Glaucoma 3, primary congenital, d	Enrichment	LTBP2	1.63
470	Angel-shaped phalangoepiphyseal dysplasia	Enrichment	GDF5	1.63
471	Glaucoma 1, open angle, h	Enrichment	EFEMP1	1.63
472	Macular degeneration, age-related, 3	Enrichment	FBLN5	1.63
473	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	1.63
474	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	1.63
475	Dentinogenesis imperfecta 1	Enrichment	DSPP	1.63
476	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.63
477	Dentinogenesis imperfecta, shields type iii	Enrichment	DSPP	1.63
478	Amyloidosis, hereditary systemic 1	Enrichment	TTR	1.63
479	Dentin dysplasia, type ii	Enrichment	DSPP	1.63
480	Von willebrand disease, type 2	Enrichment	VWF	1.63
481	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	1.63
482	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	Enrichment	DSPP	1.63
483	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	1.63
484	Deafness, autosomal dominant 56	Enrichment	TNC	1.63
485	Muscular dystrophy, limb-girdle, autosomal recessive 5	Enrichment	SGCG	1.63
486	Weill-marchesani syndrome 3	Enrichment	LTBP2	1.63
487	Carpal tunnel syndrome 2	Enrichment	COMP	1.63
488	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	1.63
489	Basal ganglia calcification, idiopathic, 8, autosomal recessive	Enrichment	JAM2	1.63
490	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Enrichment	TNR	1.63
491	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	Enrichment	MUSK	1.63
492	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2	Enrichment	DTNA	1.63
493	Neuronopathy, distal hereditary motor, autosomal dominant 10	Enrichment	EMILIN1	1.63
494	Cutis laxa, autosomal recessive, type id	Enrichment	EFEMP1	1.63
495	Von willebrand disease, type 3	Enrichment	VWF	1.63
496	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.63
497	Meester-loeys syndrome	Enrichment	BGN	1.63
498	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.63
499	Cardiomyopathy, dilated, 3b	Enrichment	DMD	1.63
500	Cardiomyopathy, dilated, 1l	Enrichment	SGCD	1.63
501	Pitt-hopkins-like syndrome 2	Enrichment	NRXN1	1.63
502	Microphthalmia, syndromic 6	Enrichment	BMP4	1.63
503	Synpolydactyly 2	Enrichment	FBLN1	1.63
504	Spondylometaepiphyseal dysplasia, short limb-hand type	Enrichment	DDR2	1.63
505	Orofacial cleft 11	Enrichment	BMP4	1.63
506	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	1.63
507	Aortic aneurysm, familial thoracic 9	Enrichment	MFAP5	1.63
508	Left ventricular noncompaction 1	Enrichment	DTNA	1.63
509	Camurati-engelmann disease 2	Enrichment	TGFB2	1.63
510	Geleophysic dysplasia 3	Enrichment	LTBP3	1.63
511	Cerebral amyloid angiopathy, app-related	Enrichment	APP	1.63
512	Becker nevus syndrome	Enrichment	ACTB	1.63
513	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.63
514	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	1.63
515	Autosomal recessive limb-girdle muscular dystrophy type 2c	Enrichment	SGCG	1.63
516	Long qt syndrome 12	Enrichment	SNTA1	1.63
517	Cortical malformations, occipital	Enrichment	LAMC3	1.63
518	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	1.63
519	Cutis laxa, autosomal dominant 2	Enrichment	FBLN5	1.63
520	Bleeding disorder, platelet-type, 15	Enrichment	ACTN1	1.63
521	Chromosome 2p16.3 deletion syndrome	Enrichment	NRXN1	1.63
522	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	1.63
523	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	Enrichment	JAM3	1.63
524	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	1.63
525	Loeys-dietz syndrome 5	Enrichment	TGFB3	1.63
526	20p12.3 microdeletion syndrome	Enrichment	BMP2	1.63
527	Cutis laxa, autosomal recessive, type iie	Enrichment	LTBP1	1.63
528	Autosomal recessive limb-girdle muscular dystrophy type 2f	Enrichment	SGCD	1.63
529	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	1.63
530	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	1.63
531	Von willebrand's disease	Enrichment	VWF	1.63
532	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.63
533	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	Enrichment	TRAPPC4	1.63
534	Charcot-marie-tooth disease, demyelinating, type 1h	Enrichment	FBLN5	1.63
535	Nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	Enrichment	NRXN1	1.63
536	Warburg-cinotti syndrome	Enrichment	DDR2	1.63
537	Tufted angioma of skin	Enrichment	KDR	1.63
538	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	1.63
539	Baraitser-winter syndrome	Enrichment	ACTB	1.63
540	Amyloidosis	Enrichment	TTR	1.63
541	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	1.63
542	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Enrichment	LTBP2	1.63
543	Symptomatic form of muscular dystrophy of duchenne and becker in female carriers	Enrichment	DMD	1.63
544	Cask-related intellectual disability	Enrichment	CASK	1.63
545	Qualitative or quantitative defects of sarcoglycan	Enrichment	SGCA	1.63
546	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.63
547	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.63
548	Zebra body myopathy	Enrichment	ACTA1	1.63
549	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.63
550	Duchenne and becker muscular dystrophy	Enrichment	DMD	1.63
551	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.63
552	Arterial tortuosity-bone fragility syndrome	Enrichment	EMILIN1	1.63
553	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	1.63
554	Lethal arteriopathy syndrome due to fibulin-4 deficiency	Enrichment	EFEMP2	1.63
555	Fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome	Enrichment	FBLN1	1.63
556	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	1.63
557	Hereditary amyloidosis	Enrichment	TTR	1.63
558	Actin-accumulation myopathy	Enrichment	ACTA1	1.63
559	Attrv30m amyloidosis	Enrichment	TTR	1.63
560	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	1.63
561	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Enrichment	JAM3	1.63
562	Emilin-1-related connective tissue disease	Enrichment	EMILIN1	1.63
563	Hereditary sensorimotor neuropathy with hyperelastic skin	Enrichment	FBLN5	1.63
564	Qualitative or quantitative defects of dystrophin	Enrichment	DMD	1.63
565	Actg2 visceral myopathy	Enrichment	ACTG2	1.63
566	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	1.63
567	Attrv122i amyloidosis	Enrichment	TTR	1.63
568	Brittle cornea syndrome 1	Enrichment	PLOD1	1.61
569	Rare isolated myopia	Enrichment	P3H2	1.61
570	Gastroesophageal reflux	Enrichment	COL5A1	1.59
571	Pectus excavatum	Enrichment	DMD, FBN1	1.58
572	Amyloidosis, hereditary systemic 2	Enrichment	FGA	1.57
573	Rare genetic deafness	Enrichment	COL11A2, COL4A5	1.57
574	Achondroplasia	Enrichment	FBN1	1.52
575	Type 1 diabetes mellitus 2	Enrichment	CAPN10	1.52
576	Dyssegmental dysplasia, silverman-handmaker type	Enrichment	HSPG2	1.52
577	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.52
578	Alzheimer disease 4	Enrichment	PSEN1	1.52
579	Body mass index quantitative trait locus 12	Enrichment	CAST	1.52
580	Proprotein convertase 1/3 deficiency	Enrichment	CAST	1.52
581	Muscular dystrophy, limb-girdle, autosomal dominant 4	Enrichment	CAPN3	1.52
582	Autosomal recessive limb-girdle muscular dystrophy type 2a	Enrichment	CAPN3	1.52
583	Isolated ectopia lentis	Enrichment	FBN1	1.52
584	Isolated dandy-walker malformation without hydrocephalus	Enrichment	NID1	1.52
585	Epidermolysis bullosa simplex	Enrichment	ITGB4	1.51
586	Amelogenesis imperfecta type 2	Enrichment	MMP20	1.51
587	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	CAPN3, SGCB	1.51
588	Atypical hemolytic uremic syndrome with complement gene abnormality	Enrichment	THBD	1.50
589	Neutropenia	Enrichment	ELANE	1.49
590	Alzheimer's disease	Enrichment	APP, PSEN1	1.44
591	Cakut	Enrichment	COL4A1	1.43
592	Genetic steroid-resistant nephrotic syndrome	Enrichment	COL4A3	1.43
593	Cystic fibrosis	Enrichment	CEACAM6, PLG, TGFB1	1.42
594	Aortic aneurysm	Enrichment	FBN1	1.40
595	Mitral valve insufficiency	Enrichment	FBN1	1.40
596	Pediatric systemic lupus erythematosus	Enrichment	SPP1	1.40
597	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	1.33
598	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.33
599	Wagner vitreoretinopathy	Enrichment	VCAN	1.33
600	Camurati-engelmann disease 1	Enrichment	TGFB1	1.33
601	Spondyloepimetaphyseal dysplasia, x-linked	Enrichment	BGN	1.33
602	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	1.33
603	Fg syndrome 4	Enrichment	CASK	1.33
604	Epiphyseal dysplasia, multiple, 5	Enrichment	MATN3	1.33
605	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.33
606	Doyne honeycomb retinal dystrophy	Enrichment	EFEMP1	1.33
607	Cardiomyopathy, dilated, 1r	Enrichment	ACTC1	1.33
608	Muscular dystrophy, limb-girdle, autosomal recessive 4	Enrichment	SGCB	1.33
609	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.33
610	Multiple synostoses syndrome 2	Enrichment	GDF5	1.33
611	Cardiomyopathy, familial hypertrophic, 11	Enrichment	ACTC1	1.33
612	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.33
613	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.33
614	Cutis laxa, autosomal recessive, type ic	Enrichment	LTBP4	1.33
615	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.33
616	Mononeuropathy of the median nerve, mild	Enrichment	TTR	1.33
617	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.33
618	Angioma, tufted	Enrichment	KDR	1.33
619	Moyamoya disease 5	Enrichment	ACTA2	1.33
620	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	SGCA	1.33
621	Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type	Enrichment	MATN3	1.33
622	Pierson syndrome	Enrichment	LAMB2	1.33
623	Sclerosteosis 2	Enrichment	LRP4	1.33
624	Brachydactyly, type a1, c	Enrichment	GDF5	1.33
625	Symphalangism, proximal, 1b	Enrichment	GDF5	1.33
626	Atrial septal defect 5	Enrichment	ACTC1	1.33
627	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.33
628	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	1.33
629	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	SGCA	1.33
630	Autosomal recessive hypophosphatemic rickets	Enrichment	DMP1	1.33
631	Sclerosteosis	Enrichment	LRP4	1.33
632	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.33
633	Syndromic x-linked intellectual disability	Enrichment	CASK	1.33
634	Optic disk drusen	Enrichment	EFEMP1	1.33
635	Osteogenesis imperfecta, type xvii	Enrichment	SPARC	1.33
636	Camurati-engelmann disease	Enrichment	TGFB1	1.33
637	Myasthenic syndrome, congenital, 17	Enrichment	LRP4	1.33
638	Degenerative disc disease	Enrichment	ASPN	1.33
639	Proximal symphalangism	Enrichment	GDF5	1.33
640	Craniosynostosis 7	Enrichment	BMP2	1.33
641	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	Enrichment	TRAPPC4	1.33
642	Wagner disease	Enrichment	VCAN	1.33
643	Qualitative or quantitative defects of beta-sarcoglycan	Enrichment	SGCB	1.33
644	Glycoproteinosis	Enrichment	SGCB	1.33
645	Sgce myoclonus-dystonia	Enrichment	SGCE	1.33
646	Intestinal obstruction	Enrichment	ACTG2	1.33
647	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1, ITGA7	1.33
648	Hydrocephalus	Enrichment	NID1, PLOD1	1.33
649	Polycystic liver disease 1 with or without kidney cysts	Enrichment	FBN1	1.30
650	Arthrogryposis, renal dysfunction, and cholestasis 1	Enrichment	FBN1	1.30
651	Vitamin d-dependent rickets, type 2a	Enrichment	PRSS1	1.30
652	Goldberg-shprintzen syndrome	Enrichment	FBN1	1.30
653	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	CAPN3	1.30
654	Polycystic liver disease 1	Enrichment	FBN1	1.30
655	Dementia	Enrichment	PSEN1	1.30
656	Cleft palate, isolated	Enrichment	COL11A1	1.27
657	Fetal akinesia deformation sequence 1	Enrichment	ACTA1, FBN2, MUSK	1.26
658	Bilirubin metabolic disorder	Enrichment	F12	1.24
659	Alzheimer disease, familial, 1	Enrichment	APP, PSEN1	1.23
660	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	ACAN	1.23
661	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1	1.23
662	Muscular dystrophy, limb-girdle, autosomal recessive 1	Enrichment	CAPN3	1.23
663	46,xy disorder of sex development	Enrichment	ADAMTS16	1.23
664	Neuromuscular disease	Enrichment	ACTA1, SGCD	1.18
665	Neuronal ceroid lipofuscinosis	Enrichment	CTSD	1.16
666	Brachydactyly, type a1	Enrichment	GDF5	1.16
667	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.16
668	Brachydactyly, type c	Enrichment	GDF5	1.16
669	Arterial tortuosity syndrome	Enrichment	EMILIN1	1.16
670	Acromesomelic dysplasia 2a	Enrichment	GDF5	1.16
671	Acromesomelic dysplasia 2c	Enrichment	GDF5	1.16
672	Acromesomelic dysplasia 2b	Enrichment	GDF5	1.16
673	Periventricular nodular heterotopia 1	Enrichment	VWF	1.16
674	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	CASK	1.16
675	Ehlers-danlos syndrome, classic-like, 1	Enrichment	TNXB	1.16
676	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	1.16
677	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	1.16
678	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.16
679	Cenani-lenz syndactyly syndrome	Enrichment	LRP4	1.16
680	Vesicoureteral reflux 8	Enrichment	TNXB	1.16
681	Bronchopulmonary dysplasia	Enrichment	MUSK	1.16
682	Cutis laxa, autosomal recessive, type ib	Enrichment	EFEMP2	1.16
683	Poretti-boltshauser syndrome	Enrichment	LAMA1	1.16
684	Syndromic x-linked intellectual disability najm type	Enrichment	CASK	1.16
685	Cerebellar disease	Enrichment	CASK	1.16
686	Familial vesicoureteral reflux	Enrichment	TNXB	1.16
687	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.16
688	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.16
689	Familial drusen	Enrichment	EFEMP1	1.16
690	Lama2-related muscular dystrophy	Enrichment	LAMA2	1.16
691	Brugada syndrome 1	Enrichment	FBN1	1.16
692	Semantic dementia	Enrichment	PSEN1	1.16
693	Focal epilepsy	Enrichment	NID1	1.16
694	Charcot-marie-tooth disease	Enrichment	DST, LAMA2, TTR	1.15
695	Distal arthrogryposis	Enrichment	ACTA1, ACTC1, COL25A1	1.12
696	Ear malformation	Enrichment	COL11A2	1.12
697	Progressive non-fluent aphasia	Enrichment	PSEN1	1.06
698	Limb-girdle muscular dystrophy	Enrichment	CAPN3	1.06
699	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1	1.06
700	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.04
701	Nemaline myopathy 2	Enrichment	ACTA1	1.04
702	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2	1.04
703	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.04
704	Glaucoma 3, primary infantile, b	Enrichment	LTBP2	1.04
705	Retinitis pigmentosa 26	Enrichment	ITGA4	1.04
706	Dentin dysplasia, type i	Enrichment	DSPP	1.04
707	Aminoacylase 1 deficiency	Enrichment	ACTB	1.04
708	Multiple synostoses syndrome	Enrichment	GDF5	1.04
709	Atrial fibrillation	Enrichment	SNTA1	1.04
710	Diabetes insipidus	Enrichment	MATN4	1.04
711	Cerebral malaria	Enrichment	ICAM1	1.04
712	Intermediate nemaline myopathy	Enrichment	ACTA1	1.04
713	Melanoma	Enrichment	FBN1	1.01
714	Migraine with or without aura 1	Enrichment	CAPN3	0.97
715	Frontotemporal dementia 1	Enrichment	PSEN1	0.97
716	Autoinflammatory disease	Enrichment	ELANE	0.97
717	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	0.95
718	Visceral myopathy 1	Enrichment	ACTG2	0.95
719	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	CASK	0.95
720	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1	0.95
721	Myasthenic syndrome, congenital, 8	Enrichment	AGRN	0.95
722	Congenital heart defects, multiple types, 4	Enrichment	BMP7	0.95
723	Glanzmann thrombasthenia 2	Enrichment	ITGB3	0.95
724	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	LAMA2	0.95
725	Holoprosencephaly	Enrichment	MATN4	0.95
726	Night blindness	Enrichment	EFEMP1	0.95
727	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	0.95
728	Coloboma of choroid and retina	Enrichment	ACTG1	0.95
729	Severe congenital nemaline myopathy	Enrichment	ACTA1	0.95
730	Body mass index quantitative trait locus 11	Enrichment	CAST, NRXN1, SDC3	0.95
731	Microphthalmia/coloboma 12	Enrichment	CAPN15	0.90
732	Diaphragmatic hernia, congenital	Enrichment	FBN1	0.90
733	Chromosome 1p36 deletion syndrome	Enrichment	HSPG2	0.90
734	Nonsyndromic hearing loss	Enrichment	COL11A2	0.89
735	Glaucoma, primary open angle	Enrichment	LTBP2	0.88
736	Dystonia 11, myoclonic	Enrichment	SGCE	0.88
737	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	TNXB	0.88
738	Holoprosencephaly 1	Enrichment	MATN4	0.88
739	Moyamoya disease 1	Enrichment	ACTA2	0.88
740	Hemangioma, capillary infantile	Enrichment	KDR	0.88
741	Dental anomalies and short stature	Enrichment	LTBP3	0.88
742	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	0.88
743	Intestinal pseudo-obstruction	Enrichment	ACTG2	0.88
744	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	0.88
745	Typical nemaline myopathy	Enrichment	ACTA1	0.88
746	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	TNXB	0.88
747	Heart disease	Enrichment	CAPN15	0.87
748	Hereditary chronic pancreatitis	Enrichment	PRSS1	0.87
749	Coloboma of macula	Enrichment	CAPN15	0.85
750	Severe covid-19	Enrichment	F13B	0.84
751	Perrault syndrome 1	Enrichment	FBN1	0.82
752	Meniere disease	Enrichment	DTNA	0.82
753	Alzheimer's disease 1	Enrichment	APP	0.82
754	Childhood-onset nemaline myopathy	Enrichment	ACTA1	0.82
755	Congenital hydrocephalus	Enrichment	SGCD	0.82
756	Hypophosphatemic rickets	Enrichment	DMP1	0.82
757	Primary ovarian insufficiency	Enrichment	ADAMTS1, KDR, THBS1	0.80
758	Hemochromatosis, type 1	Enrichment	BMP2	0.76
759	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	0.76
760	Familial hypertrophic cardiomyopathy	Enrichment	ACTC1, DMD	0.74
761	Williams-beuren syndrome	Enrichment	ELN	0.73
762	Renal agenesis, bilateral	Enrichment	ITGA8	0.72
763	Left ventricular noncompaction	Enrichment	ACTC1, DTNA	0.70
764	Non-syndromic x-linked intellectual disability	Enrichment	CASK, DMD	0.69
765	Autism	Enrichment	COL11A1	0.68
766	Cat eye syndrome	Enrichment	ACTG1	0.68
767	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	MUSK	0.68
768	Nemaline myopathy	Enrichment	ACTA1	0.68
769	Meningioma, familial	Enrichment	PDGFB	0.64
770	Atrial heart septal defect	Enrichment	DMD	0.64
771	Movement disease	Enrichment	SGCE	0.64
772	Interatrial communication	Enrichment	DMD	0.64
773	Systemic lupus erythematosus	Enrichment	ITGAM, SPP1	0.63
774	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	0.61
775	Meningioma	Enrichment	PDGFB	0.61
776	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	0.61
777	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	0.61
778	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	COL11A2	0.60
779	Retinitis pigmentosa	Enrichment	ADAM9, COL18A1	0.58
780	Neural tube defects	Enrichment	ITGB1	0.58
781	Nk-cell enteropathy	Enrichment	PTPRS	0.58
782	Cone-rod dystrophy 2	Enrichment	ADAM9	0.56
783	Lipoid congenital adrenal hyperplasia	Enrichment	TNXB	0.55
784	Lung cancer susceptibility 3	Enrichment	ACTA2	0.55
785	Congenital myasthenic syndrome	Enrichment	AGRN	0.55
786	Cleft lip/palate	Enrichment	BMP4	0.55
787	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	0.55
788	Nephronophthisis	Enrichment	ADAMTS9	0.54
789	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	CASK	0.50
790	Isolated congenital microcephaly	Enrichment	CASK	0.50
791	Early infantile developmental and epileptic encephalopathy	Enrichment	CASK	0.46
792	Congenital myopathy	Enrichment	ACTA1	0.44
793	Lissencephaly	Enrichment	ACTG1	0.41
794	Centronuclear myopathy	Enrichment	ACTA1	0.41
795	Schizophrenia	Enrichment	DMD, NRXN1	0.39
796	Malaria	Enrichment	ICAM1	0.38
797	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PSEN1	0.35
798	Tetralogy of fallot	Enrichment	KDR	0.34
799	Hydrops fetalis, nonimmune	Enrichment	ACTA1	0.34
800	Long qt syndrome 1	Enrichment	SNTA1	0.29
801	Long qt syndrome	Enrichment	SNTA1	0.28
802	Non-immune hydrops fetalis	Enrichment	ACTA1	0.28
803	Lung cancer	Enrichment	ACTA2	0.27
804	Fanconi anemia, complementation group a	Enrichment	DMD	0.25
805	Dystonia	Enrichment	CASK	0.25
806	Non-syndromic genetic deafness	Enrichment	ACTG1	0.24
807	Hypertrophic cardiomyopathy	Enrichment	ACTC1	0.19
808	Congenital nervous system abnormality	Enrichment	PSEN1	0.18
809	Nervous system disease	Enrichment	PSEN1	0.18
810	Colorectal cancer	Enrichment	DMD	0.06
811	Autism spectrum disorder	Enrichment	NRXN1	0.03
812	Complex neurodevelopmental disorder	Enrichment	TRAPPC4	0.02

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

Collagen chain trimerization

Pathway Network for Collagen chain trimerization

Pathway network for the Collagen chain trimerization SuperPath

Member Pathways for Collagen chain trimerization

Pathways in the Collagen chain trimerization SuperPath

Gene overlap in member pathways for Collagen chain trimerization SuperPath

Associated Genes for Collagen chain trimerization

Associated Disorders for Collagen chain trimerization

Disorders associated with Collagen chain trimerization SuperPath

STRING Interaction Network for Collagen chain trimerization

Sources for Collagen chain trimerization