D:Williams-beuren Syndrome

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Disease Term
Synonyms BEUREN SYNDROME, CONTIGUOUS GENE SYNDROME WILLIAMS, Elfin Facies Hypercalcaemia Syndrome, Elfin Facies Hypercalcemia Syndrome, Elfin Facies Syndrome, ELFIN FACIES SYNDROMES, Fanconi Schlesinger Syndrome, Hypercalcaemia, Hypercalcaemia Peculiar Facies Supravalvular Aortic Stenosis Syndrome, Hypercalcemia, Hypercalcemia Peculiar Facies Supravalvular Aortic Stenosis Syndrome
Documents 44
Hot Single Events 26
Hot Interactions 0

Molecular Interactions

The table below shows the top 200 pain related interactions that have been reported for Williams-beuren Syndrome. They are ordered first by their relevance to Williams-beuren Syndrome and then by their general relevance to pain. Please click on the 'INT' link to display more detailed information on each interaction.

Int No Page link Interaction String Documents TM Confidence Disease Relevance Overall Pain Relevance Term Relevance
1 INT209645 AR Regulation of STUB1 1 0.04 0.93 0.13 5.00
2 INT209644 Binding of AR and C4B 1 0.00 0.32 0.04 5.00
3 INT209636 TRPV1 Regulation of Gene_expression of AR 1 0.17 0.38 0 5.00
4 INT209633 AR Regulation of Gene_expression of PCa 1 0.06 1.19 0 5.00
5 INT209634 Binding of AR and PCa 1 0.04 1.03 0 5.00
6 INT308927 Gtf2i Positive_regulation of Gene_expression of Parp1 1 0.24 0 0 5.00
7 INT282630 Binding of CISH and UGT2B17 1 0.04 0 0 5.00
8 INT209630 ALG12 Regulation of Gene_expression of AR 1 0.13 0.38 0 5.00
9 INT209635 AR Positive_regulation of ALG12 1 0.14 0.32 0 5.00
10 INT209637 AR Positive_regulation of TRPV1 1 0.18 0.32 0 5.00
11 INT209629 AR Negative_regulation of Gene_expression of MRFAP1 1 0.26 0.16 0 5.00
12 INT209641 AR Positive_regulation of PCa 1 0.06 1.17 0 5.00
13 INT289426 Binding of ESR1 and RXFP1 1 0.01 0.18 0 5.00
14 INT209631 INCENP Negative_regulation of CHRM1 1 0.00 0.43 0 5.00
15 INT209638 AR Regulation of MRFAP1 1 0.12 0.41 0 5.00
16 INT209639 Binding of PCa and ELAC2 1 0.00 0.97 0 5.00
17 INT209640 INCENP Negative_regulation of Gene_expression of CHRM1 1 0.00 0.91 0 5.00
18 INT209643 AR Positive_regulation of PYCR1 1 0.31 1.17 0 5.00

Single Events

The table below shows the top 200 pain related interactions that have been reported for Williams-beuren Syndrome. They are ordered first by their pain relevance and then by number of times they were reported in Williams-beuren Syndrome. Please click on the 'INT' link to display more detailed information on each interaction.

Int No Page link Event String Documents TM Confidence Disease Relevance Overall Pain Relevance Term Relevance
1 INT22871 Gene_expression of ELN 30 0.68 14.86 1.33 100.00
2 INT22873 Positive_regulation of ELN 6 0.45 3.74 0.33 100.00
3 INT274221 Regulation of Gene_expression of Eln 1 0.04 0.82 0.04 100.00
4 INT63009 Localization of CACNA2D1 1 0.75 0.78 0.13 99.48
5 INT308909 Negative_regulation of Gtf2ird1 4 0.54 2.13 0.29 99.24
6 INT27554 Regulation of Eln 6 0.52 6.76 0.39 99.08
7 INT274220 Negative_regulation of Gene_expression of Eln 1 0.05 2.6 0.13 98.92
8 INT22235 Gene_expression of Eln 11 0.76 5.4 1.23 98.92
9 INT308907 Negative_regulation of Gtf2i 1 0.31 1.22 0.16 98.84
10 INT179654 Positive_regulation of Eln 5 0.44 4.3 0.43 97.24
11 INT308912 Positive_regulation of Gtf2ird1 1 0.46 1.43 0 96.92
12 INT308913 Positive_regulation of Clip2 1 0.42 0.77 0 96.52
13 INT308916 Gene_expression of Clip2 1 0.50 1.14 0 94.84
14 INT83837 Gene_expression of CEACAM6 7 0.76 13.8 4.59 94.80
15 INT308910 Gene_expression of Gtf2ird1 2 0.78 2.21 1.09 94.72
16 INT39948 Binding of FLNA 45 0.42 58.05 4.27 94.60
17 INT83835 Positive_regulation of CEACAM6 3 0.24 1.53 1.01 92.64
18 INT243550 Gene_expression of PSPH 7 0.25 7.49 0.4 92.56
19 INT274219 Positive_regulation of Gene_expression of Eln 4 0.06 2.69 0.22 90.56
20 INT247621 Gene_expression of PAMR1 4 0.06 1.49 0.44 89.04
21 INT308908 Negative_regulation of Gene_expression of Loca1 1 0.14 0.81 0.34 88.48
22 INT308918 Negative_regulation of Loca1 1 0.14 0.4 0.17 88.48
23 INT308906 Gene_expression of Loca1 1 0.23 0.8 0.33 87.84
24 INT308905 Gene_expression of Gtf2i 1 0.65 1.73 0.25 86.80
25 INT308914 Binding of Gtf2i 1 0.47 0.99 0.08 86.80
26 INT59718 Regulation of Htr1a 10 0.44 3.9 5.44 82.48
27 INT162531 Binding of Eln 4 0.43 3.8 0.42 75.04
28 INT226298 Positive_regulation of Gene_expression of TGM1 4 0.24 2.66 0 73.56
29 INT112498 Gene_expression of TGM1 18 0.55 10.76 1.21 73.16
30 INT208142 Gene_expression of PITX1 3 0.65 9.36 0.73 72.48
31 INT289450 Regulation of Gene_expression of PITX1 1 0.04 0.71 0.09 72.48
32 INT253 Regulation of PRL 184 0.62 47.27 65.79 70.32
33 INT128498 Regulation of CCND1 17 0.39 12.51 0.58 70.32
34 INT314516 Positive_regulation of Regulation of Htr1a 1 0.44 0.38 0.24 69.44
35 INT18872 Negative_regulation of Asap1 18 0.43 8.48 5.42 61.72
36 INT160153 Gene_expression of Htr1a 7 0.65 2.95 3.23 52.96
37 INT314520 Positive_regulation of Gene_expression of Htr1a 1 0.44 0.62 0.28 52.96
38 INT120811 Gene_expression of Gopc 1174 0.59 428.49 150.55 50.00
39 INT170381 Transcription of Gopc 59 0.60 15.96 6.82 50.00
40 INT2397 Gene_expression of Maoa 12 0.77 11.85 3.88 50.00
41 INT314521 Positive_regulation of Gene_expression of Gtf2ird1 1 0.50 0.33 0.24 50.00
42 INT314515 Negative_regulation of Gene_expression of Gtf2ird1 1 0.43 0.34 0.22 50.00
43 INT314517 Transcription of Gtf2ird1 1 0.69 0.19 0.12 50.00
44 INT314518 Regulation of Gtf2ird1 1 0.40 0.06 0.11 50.00
45 INT314519 Binding of Gtf2ird1 1 0.37 0 0 50.00
46 INT89048 Gene_expression of P2RX2 28 0.75 8.75 7.9 49.28
47 INT42810 Gene_expression of CALCRL 53 0.77 10.87 15.42 48.96
48 INT135039 Gene_expression of Cd1 11 0.60 5.66 1.05 47.92
49 INT192673 Gene_expression of Hdac5 6 0.61 2.84 1.51 27.04
50 INT101902 Negative_regulation of Mki67 12 0.39 7.92 0.34 23.20
51 INT22068 Binding of CALCRL 53 0.41 6.14 17.32 12.40
52 INT46646 Localization of FLNA 19 0.73 18.83 2.53 11.88
53 INT9381 Positive_regulation of TRPV1 523 0.70 187.4 276.05 5.00
54 INT822 Gene_expression of ESR1 529 0.78 302.16 63.64 5.00
55 INT375 Positive_regulation of REN 293 0.70 152.46 47.55 5.00
56 INT1705 Gene_expression of pCA 126 0.65 88.65 34.81 5.00
57 INT154007 Gene_expression of da 46 0.56 15.28 28.22 5.00
58 INT5206 Gene_expression of AR 316 0.78 113.83 27.29 5.00
59 INT49850 Negative_regulation of PDE4A 105 0.58 76.91 26.59 5.00
60 INT20462 Binding of ESR1 210 0.44 102.7 26.34 5.00
61 INT11014 Phosphorylation of CREB1 72 0.81 26.35 25.64 5.00
62 INT3299 Positive_regulation of AGT 126 0.68 79.45 21.91 5.00
63 INT85952 Positive_regulation of AR 168 0.67 64.36 20.66 5.00
64 INT1703 Regulation of PCa 52 0.52 23.65 20.6 5.00
65 INT86187 Positive_regulation of AKT1 199 0.69 122.13 19.44 5.00
66 INT1020 Negative_regulation of BCHE 109 0.59 44.86 16.4 5.00
67 INT170335 Gene_expression of INCENP 176 0.54 91.62 15.31 5.00
68 INT635 Negative_regulation of MAOB 51 0.59 24.5 12.66 5.00
69 INT19795 Positive_regulation of EGFR 161 0.70 103.69 11.55 5.00
70 INT35366 Binding of AR 87 0.47 30.52 8.9 5.00
71 INT22481 Gene_expression of CADM1 28 0.65 30.26 8.5 5.00
72 INT18185 Gene_expression of Tyr 32 0.76 12.52 8.17 5.00
73 INT87271 Positive_regulation of Phosphorylation of CREB1 27 0.66 12.87 7.91 5.00
74 INT32580 Gene_expression of C4B 24 0.75 17.95 7.75 5.00
75 INT102572 Gene_expression of Ccnd1 79 0.69 56.37 7.34 5.00
76 INT127 Positive_regulation of ACOT1 16 0.32 5.12 6.57 5.00
77 INT67635 Negative_regulation of Gnas 29 0.04 11.4 6.32 5.00
78 INT157932 Positive_regulation of ADHD1 46 0.48 52.18 6.13 5.00
79 INT84572 Gene_expression of Zmat3 67 0.07 37.61 5.86 5.00
80 INT141151 Regulation of PSMD1 16 0.40 8.19 5.86 5.00
81 INT95759 Gene_expression of DIO3 5 0.51 2.55 5.28 5.00
82 INT95099 Gene_expression of SLC22A8 14 0.67 1.59 5.14 5.00
83 INT99091 Regulation of AR 70 0.45 31.68 5.05 5.00
84 INT113948 Gene_expression of FLNA 32 0.73 36.06 4.81 5.00
85 INT33466 Negative_regulation of C4B 14 0.43 9.06 4.64 5.00
86 INT84727 Negative_regulation of Gene_expression of AR 38 0.58 12.46 4.63 5.00
87 INT5205 Localization of AR 43 0.80 12.87 4.63 5.00
88 INT3530 Regulation of BCHE 18 0.60 5.47 4.12 5.00
89 INT71602 Negative_regulation of Trp53 84 0.59 67.77 3.68 5.00
90 INT5204 Positive_regulation of Gene_expression of AR 60 0.67 23.54 3.53 5.00
91 INT17750 Localization of MRXS5 15 0.56 6.65 3.1 5.00
92 INT123815 Gene_expression of Parp1 42 0.67 27.82 3.02 5.00
93 INT8103 Binding of TP53 46 0.44 40.2 2.96 5.00
94 INT106433 Regulation of CCR5 11 0.59 6.93 2.75 5.00
95 INT55640 Gene_expression of CHRM1 7 0.44 2.24 1.89 5.00
96 INT14503 Binding of BCHE 13 0.48 3.95 1.85 5.00
97 INT112867 Positive_regulation of Gene_expression of Ccnd1 15 0.56 13.22 1.77 5.00
98 INT38266 Localization of PTPRC 30 0.68 17.05 1.68 5.00
99 INT21788 Positive_regulation of ERBB2 49 0.66 28.88 1.68 5.00
100 INT13730 Negative_regulation of CHRM1 5 0.35 1.78 1.41 5.00
101 INT40057 Binding of MRXS5 4 0.31 1.75 1.17 5.00
102 INT209679 Positive_regulation of Regulation of AR 3 0.37 1.88 0.96 5.00
103 INT83834 Transcription of CEACAM6 2 0.28 0.1 0.93 5.00
104 INT120393 Negative_regulation of PRKCD 3 0.22 1.07 0.86 5.00
105 INT231685 Binding of CD47 12 0.47 1.55 0.73 5.00
106 INT56954 Binding of BAZ1B 2 0.36 0.06 0.55 5.00
107 INT13717 Positive_regulation of TYMS 3 0.40 1.64 0.49 5.00
108 INT89258 Localization of STUB1 3 0.14 0.67 0.49 5.00
109 INT173023 Gene_expression of MUC6 13 0.69 9.77 0.46 5.00
110 INT170334 Gene_expression of IGHD2-15 3 0.14 0.75 0.44 5.00
111 INT120394 Positive_regulation of PRKCD 2 0.26 1.58 0.41 5.00
112 INT50138 Negative_regulation of Dcn 3 0.42 0.45 0.39 5.00
113 INT155853 Gene_expression of Gnl3 3 0.17 0.1 0.34 5.00
114 INT144854 Gene_expression of STUB1 10 0.13 2.03 0.31 5.00
115 INT129470 Regulation of RRM2 4 0.22 0.36 0.27 5.00
116 INT144855 Positive_regulation of STUB1 3 0.08 0.59 0.26 5.00
117 INT188908 Gene_expression of KLK3 6 0.58 3.59 0.24 5.00
118 INT78386 Positive_regulation of GSTT2 4 0.32 0.94 0.21 5.00
119 INT46744 Gene_expression of HPR 3 0.47 1.66 0.19 5.00
120 INT186457 Binding of TAB1 3 0.47 1.53 0.18 5.00
121 INT209657 Gene_expression of PYCR1 1 0.62 3.91 0.18 5.00
122 INT185303 Positive_regulation of MUC6 2 0.36 2.59 0.17 5.00
123 INT209698 Gene_expression of PRKCD 1 0.33 1.78 0.12 5.00
124 INT155701 Gene_expression of FST 5 0.75 0.34 0.11 5.00
125 INT128990 Binding of Cd1 2 0.31 1.32 0.11 5.00
126 INT188139 Positive_regulation of FST 9 0.67 0.06 0.11 5.00
127 INT263130 Phosphorylation of PDE4A 2 0.42 0.67 0.11 5.00
128 INT209677 Regulation of PRAC 1 0.01 0.54 0.09 5.00
129 INT184167 Binding of STUB1 5 0.07 0.72 0.08 5.00
130 INT209688 Negative_regulation of Positive_regulation of PRKCD 1 0.18 1.1 0.08 5.00
131 INT145375 Transcription of CCND1 7 0.52 3.86 0.07 5.00
132 INT209694 Binding of CRELD2 1 0.19 2.52 0.06 5.00
133 INT209672 Regulation of PYCR1 1 0.22 0.89 0.04 5.00
134 INT209671 Negative_regulation of Gene_expression of PYCR1 1 0.34 1.1 0.03 5.00
135 INT186894 Positive_regulation of DDT 2 0.34 2.46 0.03 5.00
136 INT209669 Positive_regulation of CRELD2 1 0.27 1.59 0.03 5.00
137 INT289451 Binding of RXFP1 1 0.09 0.18 0 5.00
138 INT289453 Positive_regulation of Positive_regulation of RXFP1 1 0.10 0.08 0 5.00
139 INT209699 Negative_regulation of STUB1 1 0.07 0.41 0 5.00
140 INT209696 Binding of KIF1A 1 0.15 0.06 0 5.00
141 INT289454 Gene_expression of ATL1 1 0.14 0.1 0 5.00
142 INT209662 Negative_regulation of Gene_expression of CHRM1 1 0.20 0.91 0 5.00
143 INT282633 Gene_expression of UGT2B17 2 0.67 0.39 0 5.00
144 INT289446 Transcription of CALCRL 1 0.01 0.1 0 5.00
145 INT209680 Positive_regulation of ALG12 1 0.16 0.37 0 5.00
146 INT209692 Binding of AQP12A 1 0.13 0.06 0 5.00
147 INT289460 Transcription of P2RX2 1 0.06 0.1 0 5.00
148 INT209691 Negative_regulation of WBSCR28 1 0.21 0.48 0 5.00
149 INT209684 Negative_regulation of CRELD2 1 0.23 0.96 0 5.00
150 INT289448 Transcription of TGM1 1 0.19 0.1 0 5.00
151 INT209673 Negative_regulation of Binding of AR 2 0.27 0.5 0 5.00
152 INT209678 Gene_expression of MAN2B2 1 0.38 0.74 0 5.00
153 INT209689 Binding of SYNGR1 1 0.16 0.06 0 5.00
154 INT308911 Gene_expression of Elmaz1 1 0.16 0.08 0 5.00
155 INT209685 Regulation of Regulation of MRFAP1 1 0.24 0.08 0 5.00
156 INT209674 Negative_regulation of KIAA1217 1 0.24 1.46 0 5.00
157 INT196230 Regulation of STUB1 2 0.05 0.8 0 5.00
158 INT289455 Transcription of ATL1 1 0.16 0.2 0 5.00
159 INT209659 Gene_expression of ALG12 1 0.21 0.89 0 5.00
160 INT209666 Negative_regulation of GCNT2 1 0.01 0.98 0 5.00
161 INT308915 Positive_regulation of Gene_expression of Gtf2i 1 0.36 0 0 5.00
162 INT308919 Localization of Gtf2i 1 0.73 0 0 5.00
163 INT209682 Gene_expression of MRFAP1 1 0.41 0.15 0 5.00
164 INT209668 Regulation of MRFAP1 1 0.24 0.14 0 5.00
165 INT209676 Negative_regulation of Gene_expression of MRFAP1 1 0.23 0 0 5.00
166 INT209695 Binding of FZD9 1 0.15 0.06 0 5.00
167 INT289457 Positive_regulation of NRN1 1 0.08 0.08 0 5.00
168 INT347732 Binding of Shc2 1 0.14 0.58 0 5.00
169 INT249343 Gene_expression of NRN1 3 0.45 1.27 0 5.00
170 INT186573 Gene_expression of DDT 9 0.44 3.73 0 5.00
171 INT289449 Gene_expression of SCHIP1 1 0.34 0.1 0 5.00
172 INT289459 Gene_expression of RXFP1 1 0.13 0.18 0 5.00
173 INT209661 Gene_expression of KIAA1217 1 0.38 0.56 0 5.00
174 INT209664 Localization of TMPRSS2 1 0.35 0.93 0 5.00
175 INT289452 Positive_regulation of NF2 1 0.01 0.08 0 5.00
176 INT209687 Negative_regulation of Negative_regulation of CHRM1 1 0.20 0.3 0 5.00
177 INT209697 Gene_expression of SHPK 1 0.18 0.24 0 5.00
178 INT209667 Gene_expression of LHX4 1 0.28 0.24 0 5.00
179 INT289456 Transcription of SCHIP1 1 0.35 0.2 0 5.00
180 INT282631 Negative_regulation of Gene_expression of FST 1 0.26 0 0 5.00
181 INT209693 Negative_regulation of DDT 1 0.24 0.97 0 5.00
182 INT209660 Gene_expression of KIF1A 1 0.32 0.5 0 5.00
183 INT289458 Gene_expression of GALNTL4 1 0.43 0.33 0 5.00
184 INT188136 Regulation of FST 4 0.23 0 0 5.00
185 INT209683 Gene_expression of WBSCR28 1 0.28 0.19 0 5.00
186 INT209690 Gene_expression of CRELD2 1 0.37 1.3 0 5.00
187 INT243545 Positive_regulation of PSPH 3 0.14 1.05 0 5.00
188 INT289445 Positive_regulation of Positive_regulation of PSPH 1 0.14 0.08 0 5.00
189 INT209656 Negative_regulation of MUC6 1 0.26 0.49 0 5.00
190 INT289444 Positive_regulation of GALNT6 1 0.03 0.08 0 5.00
191 INT209670 Regulation of Gene_expression of KIAA1217 1 0.22 0.37 0 5.00
192 INT209665 Negative_regulation of PYCR1 1 0.34 1.06 0 5.00
193 INT188144 Negative_regulation of FST 3 0.47 0 0 5.00
194 INT289447 Positive_regulation of RXFP1 1 0.10 0.16 0 5.00
195 INT209663 Gene_expression of AQP12A 1 0.28 0.19 0 5.00
196 INT209686 Negative_regulation of Gene_expression of PRKCD 1 0.18 0 0 5.00
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