Disease table of JUVENILE POLYPOSIS SYNDROME OMIM ID: 174900

Gene-disease associations table

Gene	Associated with JUVENILE POLYPOSIS SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
SMAD4	ClinVar, OMIM, HUMSAVAR	HGNC link	18q21.2	4	260350, 174900, 139210, 175050
BMPR1A	ClinVar, OMIM, HUMSAVAR	HGNC link	10q23.2	2	610069, 174900

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
SMAD4	YES	23	SERPINE1, RUNX1T1, EPO, BTRC, BGLAP, POR, CDKN2B, BAMBI, SMAD7, DACH1, TGFB1, CDKN1A, HP, JUN, PDGFRA, AHR, TNC, FSTL3, FBXO32, APOC3, SKIL, MYC, ZFP36	0

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
SMAD4	YES	4	CEBPB, KAT2B, JUNB, FOS	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
SMAD4	BMPR1A	No	6	SMURF1, OTUB1, SMAD7, USP15, SMAD6, SMAD1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
SMAD4	BMPR1A	Yes	activation, binding	17	SMURF1, BMPR1B, RUNX2, BMP4, ATF2, SMAD7, SMAD1, SMAD6, SMAD5, ZFYVE16, SMAD3, SMAD2, BMP2, NKX2-5, SMAD9, GATA4, UBC

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

--> -->

<type 'exceptions.KeyError'>

Python 2.7.9: /usr/bin/python
Thu Apr 12 10:23:15 2018

A problem occurred in a Python script. Here is the sequence of function calls leading up to the error, in the order they occurred.

/usr/lib/cgi-bin/gene_disease_db/disease_mkstatic.py in ()

968 #only if it is polygenic

969 if dis_type!="MONOGENIC":

=> 970 main_function(gene_set,dis)

971

972 else:

main_function = <function main_function>, gene_set = set(['BMPR1A', 'SMAD4']), dis = ('174900',)

/usr/lib/cgi-bin/gene_disease_db/disease_mkstatic.py in main_function(gene_set=set(['BMPR1A', 'SMAD4']), dis=('174900',))

868 census_ann(gene_set,dis)

869 pdb_ann(gene_set,dis)

=> 870 manual_ann(gene_set)

871 if dis!=None:

872 shared,shared_terms=kegg_ann(dis,conn,gene_set)

global manual_ann = <function manual_ann>, gene_set = set(['BMPR1A', 'SMAD4'])

/usr/lib/cgi-bin/gene_disease_db/disease_mkstatic.py in manual_ann(gene_set=set(['BMPR1A', 'SMAD4']))

750 if inter:

751 int_type=get_el("SELECT int_type from big_trig_curated where (gene1=%s and gene2=%s)",[gene1,gene2])

=> 752 myline.append(int_type2text[int_type])

753 else:

754 myline.append("No")

myline = ['BMPR1A', 'SMAD4'], myline.append = <built-in method append of list object>, int_type2text = {'NA': 'not available', 'ind': 'yes, indirect', 'm': 'maybe', 'm_ind': 'maybe, indirect', 'yes': 'yes, complex', 'yes NC': 'yes, they interact', 'yes TF': 'they interact as TF and regulated gene', 'yes ind': 'yes, indirect', 'yes m_NC': 'yes, they interact but maybe not in complex', 'yes m_ind': 'yes, maybe indirect'}, int_type = 'yes NC m_ind'

<type 'exceptions.KeyError'>: 'yes NC m_ind'
args = ('yes NC m_ind',)
message = 'yes NC m_ind'