SMAD4

SMAD family member 4

Identifier: CI-GENE-00031381
Entity page: /gene/SMAD4 ↗
Edges: 2,496

Neighbours: 16 cancers15 variants
Drawn: 31 of 31 neighbours (cap 60); table lists every fetched edge

Accepted: cancer:<slug>, gene:<symbol>, variant:<slug>, drug:<slug>, trial:<NCT id>, or a bare CI id. Find slugs with search.

Most connectedLung Non-Small Cell Carcinoma 3,149 Malignant Colorectal Neoplasm 1,866 ABL1 298 EGFR 276 Imatinib 450 Dasatinib 321

Neighbourhood

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Source-native edges first (aggregated per neighbour, direction, evidence level and source), then derived registry links. Up to 15 per relationship (10 trials); “show all” raises one group to 200.

Relationship	Neighbour	Direction	Evidence level	Cancer context	Support	Claim	Source	Expand
SMAD4 associated with …ASSOCIATED_WITH5 of 5
→ associated with	Malignant Colorectal Neoplasmsubtype 2 source records aggregated	supports	B	Malignant Colorectal Neoplasm	2	Curated	civic	graph →
→ associated with	Malignant Pancreatic Neoplasmcancer	supports

SMAD4 has variant …HAS_VARIANTderived15 of 2,479show all (up to 200)
→ has variant	Mutationother 2 accepted CIViC evidence items	—	—	Malignant Colorectal Neoplasm,Pancreatic Adenocarcinoma	2	Curated	civic	graph →
→ has variant	Deletiondeletion_cna 1 accepted CIViC evidence items	—	—	Malignant Colorectal Neoplasm	1	Curated	civic	graph →
→ has variant	Expressionexpression 1 accepted CIViC evidence items	—	—	Pancreatic Ductal Adenocarcinoma	1	Curated	civic	graph →
→ has variant	LOSSdeletion_cna 1 accepted CIViC evidence items	—	—	Malignant Pancreatic Neoplasm	1	Curated	civic	graph →
→ has variant	R361CSNV 1 accepted CIViC evidence items	—	—	not mapped	1	Curated	civic	graph →
→ has variant	Underexpressionexpression 1 accepted CIViC evidence items	—	—	Head and Neck Squamous Cell Carcinoma	1	Curated	civic	graph →
→ has variant	Alterationother no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	c.403C>TSNV no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	D351HSNV no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	D493HSNV no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	D537YSNV no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	E330ASNV no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	E330KSNV no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	FRAMESHIFT MUTATIONindel no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	G252*SNV no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →

SMAD4 altered in cohorts of …ALTERED_INderived12 of 12
→ altered in cohorts of	Esophageal Carcinoma 128 / 185 cases (69 %) · ssm · TCGA-ESCA	—	—	Esophageal Carcinoma	1	Observed	gdc	graph →
→ altered in cohorts of	Gallbladder Carcinoma 52 / 244 cases (21 %) · ssm · gbc_mskcc_2022 · largest of 2 cohorts	—	—	Gallbladder Carcinoma	2	Observed	cbioportal	graph →
→ altered in cohorts of	Ampulla of Vater Carcinoma 29 / 160 cases (18 %) · ssm · ampca_bcm_2016	—	—	Ampulla of Vater Carcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Colorectal Adenocarcinoma 173 / 1,134 cases (15 %) · ssm · crc_msk_2017 · largest of 8 cohorts	—	—	Colorectal Adenocarcinoma	8	Observed	cbioportal	graph →
→ altered in cohorts of	Rectal Adenocarcinoma 1,078 / 7,237 cases (15 %) · ssm · crc_msk_2026 · largest of 3 cohorts	—	—	Rectal Adenocarcinoma	3	Observed	cbioportal	graph →
→ altered in cohorts of	Cholangiocarcinoma 60 / 417 cases (14 %) · ssm · chol_icgc_2017	—	—	Cholangiocarcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Appendix Adenocarcinoma 35 / 273 cases (13 %) · ssm · appendiceal_msk_2022	—	—	Appendix Adenocarcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Colon Adenocarcinoma 48 / 429 cases (11 %) · ssm · coad_tcga_gdc	—	—	Colon Adenocarcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Gastroesophageal Junction Adenocarcinoma 33 / 341 cases (9.7 %) · ssm · egc_msk_2017 · largest of 2 cohorts	—	—	Gastroesophageal Junction Adenocarcinoma	2	Observed	cbioportal	graph →
→ altered in cohorts of	Pancreatic Adenocarcinomasubtype 34 / 412 cases (8.3 %) · ssm · pancreas_ctdna_msk_2025 · largest of 8 cohorts	—	—	Pancreatic Adenocarcinoma	8	Observed	cbioportal	graph →
→ altered in cohorts of	Hepatocellular Carcinoma 103 / 1,370 cases (7.5 %) · ssm · hcc_msk_2024	—	—	Hepatocellular Carcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Invasive Breast Carcinoma 38 / 527 cases (7.2 %) · ssm · brca_msk_2025	—	—	Invasive Breast Carcinoma	1	Observed	cbioportal	graph →

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