RASA1 (RAS p21 protein activator 1)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5921
• Gene name: RAS p21 protein activator 1
• Gene symbol: RASA1
• Synonyms (NCBI Gene): CM-AVM, CMAVM, CMAVM1, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP
• Chromosome: 5
• Chromosome location: 5q14.3
• Summary: The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs797044451	CT>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1057518367	G>A	Likely-pathogenic	5 prime UTR variant, intron variant
rs1384480619	AG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs1554038827	T>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs1580179449	CCCCTTTG>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant

miRNA Show/Hide all (397)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003988	hsa-miR-21-5p	Luciferase reporter assay, Western blot	18372920
MIRT003230	hsa-miR-335-5p	Luciferase reporter assay	20065103
MIRT007010	hsa-miR-132-3p	Immunoblot, Western blot	21868695
MIRT007292	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	23322774
MIRT024963	hsa-miR-214-3p	Microarray;Other	19859982
MIRT050067	hsa-miR-26a-5p	CLASH	23622248
MIRT049006	hsa-miR-92a-3p	CLASH	23622248
MIRT047898	hsa-miR-30c-5p	CLASH	23622248
MIRT053397	hsa-miR-96-5p	Microarray	23807165
MIRT003230	hsa-miR-335-5p	qRT-PCR, Western blot	25520857
MIRT003230	hsa-miR-335-5p	qRT-PCR, Western blot	25520857
MIRT097556	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT097557	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT007292	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	26747707
MIRT007292	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	26747707
MIRT003230	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, Western blot	26708214
MIRT003230	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, Western blot	26708214
MIRT003988	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	25663768
MIRT003988	hsa-miR-21-5p	Luciferase reporter assay, Western blot	27876571
MIRT003988	hsa-miR-21-5p	Luciferase reporter assay, Western blot	27876571
MIRT007292	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	26657862
MIRT007292	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	26657862
MIRT007292	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR, Western blot	26657862
MIRT003230	hsa-miR-335-5p	Luciferase reporter assay, qRT-PCR, RNA-seq, Western blotting	33767913
MIRT735662	hsa-miR-582-3p	Immunohistochemistry (IHC)	33510968
MIRT756157	hsa-miR-376a-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP)	36747515
MIRT1291737	hsa-miR-101	CLIP-seq
MIRT1291738	hsa-miR-103b	CLIP-seq
MIRT1291739	hsa-miR-105	CLIP-seq
MIRT1291740	hsa-miR-1179	CLIP-seq
MIRT1291741	hsa-miR-1231	CLIP-seq
MIRT1291742	hsa-miR-1244	CLIP-seq
MIRT1291743	hsa-miR-1257	CLIP-seq
MIRT1291744	hsa-miR-1261	CLIP-seq
MIRT1291745	hsa-miR-1279	CLIP-seq
MIRT1291746	hsa-miR-1290	CLIP-seq
MIRT1291747	hsa-miR-130a	CLIP-seq
MIRT1291748	hsa-miR-130b	CLIP-seq
MIRT1291749	hsa-miR-132	CLIP-seq
MIRT1291750	hsa-miR-144	CLIP-seq
MIRT1291751	hsa-miR-153	CLIP-seq
MIRT1291752	hsa-miR-188-5p	CLIP-seq
MIRT1291753	hsa-miR-19a	CLIP-seq
MIRT1291754	hsa-miR-19b	CLIP-seq
MIRT1291755	hsa-miR-2053	CLIP-seq
MIRT1291756	hsa-miR-21	CLIP-seq
MIRT1291757	hsa-miR-2113	CLIP-seq
MIRT1291758	hsa-miR-212	CLIP-seq
MIRT1291759	hsa-miR-2276	CLIP-seq
MIRT1291760	hsa-miR-24	CLIP-seq
MIRT1291761	hsa-miR-2682	CLIP-seq
MIRT1291762	hsa-miR-301a	CLIP-seq
MIRT1291763	hsa-miR-301b	CLIP-seq
MIRT1291764	hsa-miR-30a	CLIP-seq
MIRT1291765	hsa-miR-30b	CLIP-seq
MIRT1291766	hsa-miR-30c	CLIP-seq
MIRT1291767	hsa-miR-30d	CLIP-seq
MIRT1291768	hsa-miR-30e	CLIP-seq
MIRT1291769	hsa-miR-3134	CLIP-seq
MIRT1291770	hsa-miR-3167	CLIP-seq
MIRT1291771	hsa-miR-3190	CLIP-seq
MIRT1291772	hsa-miR-320a	CLIP-seq
MIRT1291773	hsa-miR-320b	CLIP-seq
MIRT1291774	hsa-miR-320c	CLIP-seq
MIRT1291775	hsa-miR-320d	CLIP-seq
MIRT1291776	hsa-miR-323-5p	CLIP-seq
MIRT1291777	hsa-miR-323b-5p	CLIP-seq
MIRT1291778	hsa-miR-330-3p	CLIP-seq
MIRT1291779	hsa-miR-342-3p	CLIP-seq
MIRT1291780	hsa-miR-346	CLIP-seq
MIRT1291781	hsa-miR-3611	CLIP-seq
MIRT1291782	hsa-miR-3647-3p	CLIP-seq
MIRT1291783	hsa-miR-3666	CLIP-seq
MIRT1291784	hsa-miR-377	CLIP-seq
MIRT1291785	hsa-miR-3936	CLIP-seq
MIRT1291786	hsa-miR-3942-5p	CLIP-seq
MIRT1291787	hsa-miR-4257	CLIP-seq
MIRT1291788	hsa-miR-4288	CLIP-seq
MIRT1291789	hsa-miR-4295	CLIP-seq
MIRT1291790	hsa-miR-4307	CLIP-seq
MIRT1291791	hsa-miR-4422	CLIP-seq
MIRT1291792	hsa-miR-4423-3p	CLIP-seq
MIRT1291793	hsa-miR-4426	CLIP-seq
MIRT1291794	hsa-miR-4429	CLIP-seq
MIRT1291795	hsa-miR-4452	CLIP-seq
MIRT1291796	hsa-miR-448	CLIP-seq
MIRT1291797	hsa-miR-4491	CLIP-seq
MIRT1291798	hsa-miR-449c	CLIP-seq
MIRT1291799	hsa-miR-4502	CLIP-seq
MIRT1291800	hsa-miR-4511	CLIP-seq
MIRT1291801	hsa-miR-451b	CLIP-seq
MIRT1291802	hsa-miR-4527	CLIP-seq
MIRT1291803	hsa-miR-454	CLIP-seq
MIRT1291804	hsa-miR-4647	CLIP-seq
MIRT1291805	hsa-miR-4657	CLIP-seq
MIRT1291806	hsa-miR-4662b	CLIP-seq
MIRT1291807	hsa-miR-4671-3p	CLIP-seq
MIRT1291808	hsa-miR-4699-3p	CLIP-seq
MIRT1291809	hsa-miR-4703-5p	CLIP-seq
MIRT1291810	hsa-miR-4716-5p	CLIP-seq
MIRT1291811	hsa-miR-4719	CLIP-seq
MIRT1291812	hsa-miR-4720-5p	CLIP-seq
MIRT1291813	hsa-miR-4724-5p	CLIP-seq
MIRT1291814	hsa-miR-4772-3p	CLIP-seq
MIRT1291815	hsa-miR-4773	CLIP-seq
MIRT1291816	hsa-miR-4780	CLIP-seq
MIRT1291817	hsa-miR-4799-3p	CLIP-seq
MIRT1291818	hsa-miR-488	CLIP-seq
MIRT1291819	hsa-miR-495	CLIP-seq
MIRT1291820	hsa-miR-496	CLIP-seq
MIRT1291821	hsa-miR-499-3p	CLIP-seq
MIRT1291822	hsa-miR-499a-3p	CLIP-seq
MIRT1291823	hsa-miR-522	CLIP-seq
MIRT1291824	hsa-miR-539	CLIP-seq
MIRT1291825	hsa-miR-548b-3p	CLIP-seq
MIRT1291826	hsa-miR-567	CLIP-seq
MIRT1291827	hsa-miR-582-5p	CLIP-seq
MIRT1291828	hsa-miR-590-5p	CLIP-seq
MIRT1291829	hsa-miR-622	CLIP-seq
MIRT1291830	hsa-miR-623	CLIP-seq
MIRT1291831	hsa-miR-624	CLIP-seq
MIRT1291832	hsa-miR-632	CLIP-seq
MIRT1291833	hsa-miR-758	CLIP-seq
MIRT1291834	hsa-miR-873	CLIP-seq
MIRT1291835	hsa-miR-876-5p	CLIP-seq
MIRT1291836	hsa-miR-940	CLIP-seq
MIRT1291737	hsa-miR-101	CLIP-seq
MIRT1291739	hsa-miR-105	CLIP-seq
MIRT1291740	hsa-miR-1179	CLIP-seq
MIRT1291837	hsa-miR-1226	CLIP-seq
MIRT1291742	hsa-miR-1244	CLIP-seq
MIRT1291745	hsa-miR-1279	CLIP-seq
MIRT1291838	hsa-miR-1284	CLIP-seq
MIRT1291746	hsa-miR-1290	CLIP-seq
MIRT1291749	hsa-miR-132	CLIP-seq
MIRT1291750	hsa-miR-144	CLIP-seq
MIRT1291839	hsa-miR-197	CLIP-seq
MIRT1291755	hsa-miR-2053	CLIP-seq
MIRT1291756	hsa-miR-21	CLIP-seq
MIRT1291757	hsa-miR-2113	CLIP-seq
MIRT1291758	hsa-miR-212	CLIP-seq
MIRT1291840	hsa-miR-223	CLIP-seq
MIRT1291759	hsa-miR-2276	CLIP-seq
MIRT1291760	hsa-miR-24	CLIP-seq
MIRT1291770	hsa-miR-3167	CLIP-seq
MIRT1291776	hsa-miR-323-5p	CLIP-seq
MIRT1291841	hsa-miR-3545-3p	CLIP-seq
MIRT1291781	hsa-miR-3611	CLIP-seq
MIRT1291842	hsa-miR-3655	CLIP-seq
MIRT1291843	hsa-miR-376a	CLIP-seq
MIRT1291844	hsa-miR-376b	CLIP-seq
MIRT1291787	hsa-miR-4257	CLIP-seq
MIRT1291845	hsa-miR-432	CLIP-seq
MIRT1291800	hsa-miR-4511	CLIP-seq
MIRT1291846	hsa-miR-4520a-3p	CLIP-seq
MIRT1291847	hsa-miR-4520b-3p	CLIP-seq
MIRT1291802	hsa-miR-4527	CLIP-seq
MIRT1291848	hsa-miR-4530	CLIP-seq
MIRT1291849	hsa-miR-4697-3p	CLIP-seq
MIRT1291810	hsa-miR-4716-5p	CLIP-seq
MIRT1291812	hsa-miR-4720-5p	CLIP-seq
MIRT1291850	hsa-miR-4728-3p	CLIP-seq
MIRT1291851	hsa-miR-4731-3p	CLIP-seq
MIRT1291852	hsa-miR-4733-3p	CLIP-seq
MIRT1291814	hsa-miR-4772-3p	CLIP-seq
MIRT1291815	hsa-miR-4773	CLIP-seq
MIRT1291853	hsa-miR-4781-3p	CLIP-seq
MIRT1291854	hsa-miR-4789-5p	CLIP-seq
MIRT1291817	hsa-miR-4799-3p	CLIP-seq
MIRT1291855	hsa-miR-4801	CLIP-seq
MIRT1291818	hsa-miR-488	CLIP-seq
MIRT1291823	hsa-miR-522	CLIP-seq
MIRT1291825	hsa-miR-548b-3p	CLIP-seq
MIRT1291856	hsa-miR-578	CLIP-seq
MIRT1291827	hsa-miR-582-5p	CLIP-seq
MIRT1291828	hsa-miR-590-5p	CLIP-seq
MIRT1291829	hsa-miR-622	CLIP-seq
MIRT1291831	hsa-miR-624	CLIP-seq
MIRT1291857	hsa-miR-634	CLIP-seq
MIRT1291833	hsa-miR-758	CLIP-seq
MIRT1291834	hsa-miR-873	CLIP-seq
MIRT1291835	hsa-miR-876-5p	CLIP-seq
MIRT1291858	hsa-miR-922	CLIP-seq
MIRT1291808	hsa-miR-4699-3p	CLIP-seq
MIRT1291738	hsa-miR-103b	CLIP-seq
MIRT1291740	hsa-miR-1179	CLIP-seq
MIRT2086812	hsa-miR-1271	CLIP-seq
MIRT1291746	hsa-miR-1290	CLIP-seq
MIRT1291747	hsa-miR-130a	CLIP-seq
MIRT1291748	hsa-miR-130b	CLIP-seq
MIRT1291749	hsa-miR-132	CLIP-seq
MIRT1291753	hsa-miR-19a	CLIP-seq
MIRT1291754	hsa-miR-19b	CLIP-seq
MIRT1291755	hsa-miR-2053	CLIP-seq
MIRT1291757	hsa-miR-2113	CLIP-seq
MIRT1291758	hsa-miR-212	CLIP-seq
MIRT1291760	hsa-miR-24	CLIP-seq
MIRT1291762	hsa-miR-301a	CLIP-seq
MIRT1291763	hsa-miR-301b	CLIP-seq
MIRT1291770	hsa-miR-3167	CLIP-seq
MIRT1291771	hsa-miR-3190	CLIP-seq
MIRT1291776	hsa-miR-323-5p	CLIP-seq
MIRT2086813	hsa-miR-338-3p	CLIP-seq
MIRT1291781	hsa-miR-3611	CLIP-seq
MIRT1291783	hsa-miR-3666	CLIP-seq
MIRT1291787	hsa-miR-4257	CLIP-seq
MIRT1291789	hsa-miR-4295	CLIP-seq
MIRT1291845	hsa-miR-432	CLIP-seq
MIRT1291797	hsa-miR-4491	CLIP-seq
MIRT1291801	hsa-miR-451b	CLIP-seq
MIRT1291802	hsa-miR-4527	CLIP-seq
MIRT1291848	hsa-miR-4530	CLIP-seq
MIRT1291803	hsa-miR-454	CLIP-seq
MIRT1291805	hsa-miR-4657	CLIP-seq
MIRT1291807	hsa-miR-4671-3p	CLIP-seq
MIRT1291810	hsa-miR-4716-5p	CLIP-seq
MIRT1291818	hsa-miR-488	CLIP-seq
MIRT1291820	hsa-miR-496	CLIP-seq
MIRT1291824	hsa-miR-539	CLIP-seq
MIRT2086814	hsa-miR-548g	CLIP-seq
MIRT1291833	hsa-miR-758	CLIP-seq
MIRT1291835	hsa-miR-876-5p	CLIP-seq
MIRT1291858	hsa-miR-922	CLIP-seq
MIRT2086815	hsa-miR-96	CLIP-seq
MIRT1291808	hsa-miR-4699-3p	CLIP-seq
MIRT1291739	hsa-miR-105	CLIP-seq
MIRT1291740	hsa-miR-1179	CLIP-seq
MIRT2086812	hsa-miR-1271	CLIP-seq
MIRT1291745	hsa-miR-1279	CLIP-seq
MIRT2311697	hsa-miR-1305	CLIP-seq
MIRT1291749	hsa-miR-132	CLIP-seq
MIRT2311698	hsa-miR-182	CLIP-seq
MIRT1291755	hsa-miR-2053	CLIP-seq
MIRT1291758	hsa-miR-212	CLIP-seq
MIRT1291760	hsa-miR-24	CLIP-seq
MIRT2311699	hsa-miR-3065-5p	CLIP-seq
MIRT1291771	hsa-miR-3190	CLIP-seq
MIRT1291776	hsa-miR-323-5p	CLIP-seq
MIRT2086813	hsa-miR-338-3p	CLIP-seq
MIRT1291781	hsa-miR-3611	CLIP-seq
MIRT2311700	hsa-miR-374a	CLIP-seq
MIRT2311701	hsa-miR-374b	CLIP-seq
MIRT2311702	hsa-miR-421	CLIP-seq
MIRT1291787	hsa-miR-4257	CLIP-seq
MIRT1291790	hsa-miR-4307	CLIP-seq
MIRT1291795	hsa-miR-4452	CLIP-seq
MIRT1291797	hsa-miR-4491	CLIP-seq
MIRT1291801	hsa-miR-451b	CLIP-seq
MIRT1291802	hsa-miR-4527	CLIP-seq
MIRT1291848	hsa-miR-4530	CLIP-seq
MIRT1291805	hsa-miR-4657	CLIP-seq
MIRT2311703	hsa-miR-4680-3p	CLIP-seq
MIRT1291808	hsa-miR-4699-3p	CLIP-seq
MIRT2311704	hsa-miR-4709-5p	CLIP-seq
MIRT1291813	hsa-miR-4724-5p	CLIP-seq
MIRT1291818	hsa-miR-488	CLIP-seq
MIRT2311705	hsa-miR-514	CLIP-seq
MIRT2311706	hsa-miR-514b-3p	CLIP-seq
MIRT1291823	hsa-miR-522	CLIP-seq
MIRT1291826	hsa-miR-567	CLIP-seq
MIRT1291833	hsa-miR-758	CLIP-seq
MIRT2086815	hsa-miR-96	CLIP-seq
MIRT1291738	hsa-miR-103b	CLIP-seq
MIRT1291740	hsa-miR-1179	CLIP-seq
MIRT1291747	hsa-miR-130a	CLIP-seq
MIRT1291748	hsa-miR-130b	CLIP-seq
MIRT1291749	hsa-miR-132	CLIP-seq
MIRT1291753	hsa-miR-19a	CLIP-seq
MIRT1291754	hsa-miR-19b	CLIP-seq
MIRT1291758	hsa-miR-212	CLIP-seq
MIRT1291840	hsa-miR-223	CLIP-seq
MIRT1291762	hsa-miR-301a	CLIP-seq
MIRT1291763	hsa-miR-301b	CLIP-seq
MIRT1291771	hsa-miR-3190	CLIP-seq
MIRT1291842	hsa-miR-3655	CLIP-seq
MIRT1291783	hsa-miR-3666	CLIP-seq
MIRT1291789	hsa-miR-4295	CLIP-seq
MIRT1291797	hsa-miR-4491	CLIP-seq
MIRT1291848	hsa-miR-4530	CLIP-seq
MIRT1291803	hsa-miR-454	CLIP-seq
MIRT1291805	hsa-miR-4657	CLIP-seq
MIRT1291807	hsa-miR-4671-3p	CLIP-seq
MIRT1291849	hsa-miR-4697-3p	CLIP-seq
MIRT1291810	hsa-miR-4716-5p	CLIP-seq
MIRT1291856	hsa-miR-578	CLIP-seq
MIRT2457760	hsa-miR-1	CLIP-seq
MIRT2086812	hsa-miR-1271	CLIP-seq
MIRT2457761	hsa-miR-129-5p	CLIP-seq
MIRT2311698	hsa-miR-182	CLIP-seq
MIRT2457762	hsa-miR-206	CLIP-seq
MIRT2457763	hsa-miR-31	CLIP-seq
MIRT2457764	hsa-miR-3148	CLIP-seq
MIRT1291771	hsa-miR-3190	CLIP-seq
MIRT2457765	hsa-miR-335	CLIP-seq
MIRT2457766	hsa-miR-3673	CLIP-seq
MIRT1291784	hsa-miR-377	CLIP-seq
MIRT2457767	hsa-miR-4428	CLIP-seq
MIRT1291797	hsa-miR-4491	CLIP-seq
MIRT1291805	hsa-miR-4657	CLIP-seq
MIRT1291821	hsa-miR-499-3p	CLIP-seq
MIRT1291822	hsa-miR-499a-3p	CLIP-seq
MIRT2457768	hsa-miR-548t	CLIP-seq
MIRT2457769	hsa-miR-595	CLIP-seq
MIRT2457770	hsa-miR-613	CLIP-seq
MIRT2457771	hsa-miR-648	CLIP-seq
MIRT2086815	hsa-miR-96	CLIP-seq
MIRT2457760	hsa-miR-1	CLIP-seq
MIRT1291737	hsa-miR-101	CLIP-seq
MIRT1291739	hsa-miR-105	CLIP-seq
MIRT1291742	hsa-miR-1244	CLIP-seq
MIRT2086812	hsa-miR-1271	CLIP-seq
MIRT1291745	hsa-miR-1279	CLIP-seq
MIRT2457761	hsa-miR-129-5p	CLIP-seq
MIRT2608154	hsa-miR-1299	CLIP-seq
MIRT2311697	hsa-miR-1305	CLIP-seq
MIRT1291749	hsa-miR-132	CLIP-seq
MIRT1291750	hsa-miR-144	CLIP-seq
MIRT2311698	hsa-miR-182	CLIP-seq
MIRT2457762	hsa-miR-206	CLIP-seq
MIRT1291758	hsa-miR-212	CLIP-seq
MIRT2311699	hsa-miR-3065-5p	CLIP-seq
MIRT2457763	hsa-miR-31	CLIP-seq
MIRT2457764	hsa-miR-3148	CLIP-seq
MIRT1291771	hsa-miR-3190	CLIP-seq
MIRT1291772	hsa-miR-320a	CLIP-seq
MIRT1291773	hsa-miR-320b	CLIP-seq
MIRT1291774	hsa-miR-320c	CLIP-seq
MIRT1291775	hsa-miR-320d	CLIP-seq
MIRT2457765	hsa-miR-335	CLIP-seq
MIRT2086813	hsa-miR-338-3p	CLIP-seq
MIRT2608155	hsa-miR-3607-3p	CLIP-seq
MIRT2457766	hsa-miR-3673	CLIP-seq
MIRT1291784	hsa-miR-377	CLIP-seq
MIRT1291786	hsa-miR-3942-5p	CLIP-seq
MIRT2311702	hsa-miR-421	CLIP-seq
MIRT2608156	hsa-miR-4261	CLIP-seq
MIRT1291790	hsa-miR-4307	CLIP-seq
MIRT2457767	hsa-miR-4428	CLIP-seq
MIRT1291794	hsa-miR-4429	CLIP-seq
MIRT1291797	hsa-miR-4491	CLIP-seq
MIRT1291799	hsa-miR-4502	CLIP-seq
MIRT1291801	hsa-miR-451b	CLIP-seq
MIRT1291848	hsa-miR-4530	CLIP-seq
MIRT1291805	hsa-miR-4657	CLIP-seq
MIRT1291809	hsa-miR-4703-5p	CLIP-seq
MIRT2311704	hsa-miR-4709-5p	CLIP-seq
MIRT2608157	hsa-miR-4738-3p	CLIP-seq
MIRT1291821	hsa-miR-499-3p	CLIP-seq
MIRT1291822	hsa-miR-499a-3p	CLIP-seq
MIRT1291823	hsa-miR-522	CLIP-seq
MIRT1291824	hsa-miR-539	CLIP-seq
MIRT2086814	hsa-miR-548g	CLIP-seq
MIRT2457768	hsa-miR-548t	CLIP-seq
MIRT1291826	hsa-miR-567	CLIP-seq
MIRT1291827	hsa-miR-582-5p	CLIP-seq
MIRT2457769	hsa-miR-595	CLIP-seq
MIRT2457770	hsa-miR-613	CLIP-seq
MIRT2457771	hsa-miR-648	CLIP-seq
MIRT1291834	hsa-miR-873	CLIP-seq
MIRT2608158	hsa-miR-875-3p	CLIP-seq
MIRT2086815	hsa-miR-96	CLIP-seq
MIRT2457760	hsa-miR-1	CLIP-seq
MIRT1291739	hsa-miR-105	CLIP-seq
MIRT2086812	hsa-miR-1271	CLIP-seq
MIRT2457761	hsa-miR-129-5p	CLIP-seq
MIRT2311697	hsa-miR-1305	CLIP-seq
MIRT1291749	hsa-miR-132	CLIP-seq
MIRT2311698	hsa-miR-182	CLIP-seq
MIRT2457762	hsa-miR-206	CLIP-seq
MIRT1291758	hsa-miR-212	CLIP-seq
MIRT2311699	hsa-miR-3065-5p	CLIP-seq
MIRT2457763	hsa-miR-31	CLIP-seq
MIRT2457764	hsa-miR-3148	CLIP-seq
MIRT1291771	hsa-miR-3190	CLIP-seq
MIRT1291772	hsa-miR-320a	CLIP-seq
MIRT1291773	hsa-miR-320b	CLIP-seq
MIRT1291774	hsa-miR-320c	CLIP-seq
MIRT1291775	hsa-miR-320d	CLIP-seq
MIRT2457765	hsa-miR-335	CLIP-seq
MIRT2457766	hsa-miR-3673	CLIP-seq
MIRT1291784	hsa-miR-377	CLIP-seq
MIRT2311702	hsa-miR-421	CLIP-seq
MIRT1291790	hsa-miR-4307	CLIP-seq
MIRT2457767	hsa-miR-4428	CLIP-seq
MIRT1291794	hsa-miR-4429	CLIP-seq
MIRT1291797	hsa-miR-4491	CLIP-seq
MIRT1291805	hsa-miR-4657	CLIP-seq
MIRT1291821	hsa-miR-499-3p	CLIP-seq
MIRT1291822	hsa-miR-499a-3p	CLIP-seq
MIRT1291823	hsa-miR-522	CLIP-seq
MIRT2457768	hsa-miR-548t	CLIP-seq
MIRT1291826	hsa-miR-567	CLIP-seq
MIRT2457769	hsa-miR-595	CLIP-seq
MIRT2457770	hsa-miR-613	CLIP-seq
MIRT2457771	hsa-miR-648	CLIP-seq
MIRT2086815	hsa-miR-96	CLIP-seq
MIRT1291801	hsa-miR-451b	CLIP-seq

Gene ontology (GO) Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	ISS
GO:0001525	Process	Angiogenesis	IMP	30578106
GO:0001570	Process	Vasculogenesis	ISS
GO:0001726	Component	Ruffle	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IPI	20624904
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IDA	8344248
GO:0003924	Function	GTPase activity	TAS
GO:0005096	Function	GTPase activator activity	EXP	7478585
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	2123878
GO:0005096	Function	GTPase activator activity	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	2157284, 2176151
GO:0005515	Function	Protein binding	IPI	1314164, 1375321, 1689011, 8382774, 8618896, 8649363, 9219684, 15077193, 15504032, 15574420, 16273093, 18761085, 19151751, 20598684, 20808760, 21664272, 24412244, 24728074, 28086240, 30578106, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IDA	8360177
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	2821624
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0007162	Process	Negative regulation of cell adhesion	IDA	8344248
GO:0007165	Process	Signal transduction	IDA	1756860
GO:0008360	Process	Regulation of cell shape	NAS	9113414
GO:0019870	Function	Potassium channel inhibitor activity	NAS	1553544
GO:0019899	Function	Enzyme binding	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IDA	8344248
GO:0035556	Process	Intracellular signal transduction	NAS	1581965
GO:0043066	Process	Negative regulation of apoptotic process	IDA	15542850
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0048013	Process	Ephrin receptor signaling pathway	IMP	22555806
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0048514	Process	Blood vessel morphogenesis	IMP	23687085
GO:0048731	Process	System development	IEA
GO:0051020	Function	GTPase binding	IPI	2122974
GO:0051252	Process	Regulation of RNA metabolic process	NAS	9113414
GO:1902531	Process	Regulation of intracellular signal transduction	IBA

Other IDs

• MIM: 139150
• HGNC: 9871
• e!Ensembl: ENSG00000145715

Protein

• UniProt ID: P20936
• Protein name: Ras GTPase-activating protein 1 (GAP) (GTPase-activating protein) (RasGAP) (Ras p21 protein activator) (p120GAP)
• Protein function: Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1.
• PDB: 1WER , 1WQ1 , 2GQI , 2GSB , 2J05 , 2J06 , 2M51 , 4FSS , 6PXB , 6PXC , 6WAX , 6WAY , 8BOS , 8DGQ , 9BZ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00017	SH2	351 → 426	SH2 domain	Domain
  PF00017	SH2	181 → 256	SH2 domain	Domain
  PF00018	SH3_1	285 → 333	SH3 domain	Domain
  PF00168	C2	594 → 692	C2 domain	Domain
  PF00169	PH	475 → 577	PH domain	Domain
  PF00616	RasGAP	836 → 942	GTPase-activator protein for Ras-like GTPase	Family

• Tissue specificity: TISSUE SPECIFICITY: In placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level). {ECO:0000269|PubMed:8360177}.
• Sequence:

  MMAAEAGSEEGGPVTAGAGGGGAAAGSSAYPAVCRVKIPAALPVAAAPYPGLVETGVAGT
  LGGGAALGSEFLGAGSVAGALGGAGLTGGGTAAGVAGAAAGVAGAAVAGPSGDMALTKLP
  TSLLAETLGPGGGFPPLPPPPYLPPLGAGLGTVDEGDSLDGPEYEEEEVAIPLTAPPTNQ
  WYHGKLDRTIAEERLRQAGKSGSYLIRESDRRPGSFVLSFLSQMNVVNHFRIIAMCGDYY
  IGGRRFSSLSDLIGYYSHVSCLLKGEKLLYPVAPPEPVEDRRRVRAILPYTKVPDTDEIS
  FLKGDMFIVHNELEDGWMWVTNLRTDEQGLIVEDLVEEVGREEDPHEGKIWFHGKISKQE
  AYNLLMTVGQVCSFLVRPSDNTPGDYSLYFRTNENIQRFKICPTPNNQFMMGGRYYNSIG
  DIIDHYRKEQIVEGYYLKEPVPMQDQEQVLNDTVDGKEIYNTIRRKTKDAFYKNIVKKGY
  LLKKGKGKRWKNLYFILEGSDAQLIYFESEKRATKPKGLIDLSVCSVYVVHDSLFGRPNC
  FQIVVQHFSEEHYIFYFAGETPEQAEDWMKGLQAFCNLRKSSPGTSNKRLRQVSSLVLHI
  EEAHKLPVKHFTNPYCNIYLNSVQVAKTHAREGQNPVWSEEFVFDDLPPDINRFEITLSN
  KTKKSKDPDILFMRCQLSRLQKGHATDEWFLLSSHIPLKGIEPGSLRVRARYSMEKIMPE
  EEYSEFKELILQKELHVVYALSHVCGQDRTLLASILLRIFLHEKLESLLLCTLNDREISM
  EDEATTLFRATTLASTLMEQYMKATATQFVHHALKDSILKIMESKQSCELSPSKLEKNED
  VNTNLTHLLNILSELVEKIFMASEILPPTLRYIYGCLQKSVQHKWPTNTTMRTRVVSGFV
  FLRLICPAILNPRMFNIISDSPSPIAARTLILVAKSVQNLANLVEFGAKEPYMEGVNPFI
  KSNKHRMIMFLDELGNVPELPDTTEHSRTDLSRDLAALHEICVAHSDELRTLSNERGAQQ
  HVLKKLLAITELLQQKQNQYTKTNDVR

• Sequence length: 1047

Pathways

KEGG Pathway	Reactome Pathway
MAPK signaling pathway	Downstream signal transduction
Ras signaling pathway	EPHB-mediated forward signaling
Axon guidance	VEGFR2 mediated cell proliferation
	Regulation of RAS by GAPs
	PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (14)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Angioosteohypertrophic syndrome	Pathogenic	rs772301300, rs1757679644, rs2112486988	RCV001526499 RCV001526500 RCV001526498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal cell carcinoma, somatic	Pathogenic	rs137853214, rs137853215, rs137853216	RCV000017367 RCV000017368 RCV000017369	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal cell carcinoma, susceptibility to, 1	Pathogenic; Likely pathogenic	rs863223718, rs60835976, rs1060503441, rs1060503440, rs1554044823, rs1204340475, rs1762099168	RCV000763548 RCV005040686 RCV002496786 RCV002481469 RCV000763547 RCV002507185 RCV001197461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Capillary infantile hemangioma	Pathogenic	rs2112474795	RCV002254433	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Capillary malformation-arteriovenous malformation 1	Likely pathogenic; Pathogenic	rs1761473319, rs1761580770, rs2112459497, rs2112421707, rs2112517213, rs2112487030, rs2112495617, rs2112500793, rs1561322754, rs2531355519, rs2531192062, rs863223718, rs878854569, rs2531373838, rs797044451, rs137853217, rs137853218, rs1348578241, rs1580386963, rs2531002584, rs60835976, rs1060503441, rs1060503439, rs1060503440, rs1554049394, rs1554049422, rs1554050230, rs1554044823, rs1554050584, rs1384480619, rs1554045819, rs983011713, rs1204340475, rs1561331089, rs1758886343, rs1758098122, rs1762098966, rs2112223281, rs1759083657	RCV001335991 RCV001335992 RCV001733883 RCV001810328 RCV004594603 RCV002244561 RCV005863671 RCV002272869 RCV002285211 RCV002471416 RCV002470408 RCV000763548 RCV000232710 RCV004719389 RCV000017370 RCV000017372 RCV000017373 RCV000017374 RCV000017375 RCV003991718 RCV005040686 RCV002470865 RCV004559088 RCV002481469 RCV004003559 RCV005869581 RCV000553769 RCV000763547 RCV000558080 RCV004559250 RCV000627050 RCV002307569 RCV002507185 RCV000706831 RCV003322841 RCV001283723 RCV001283722 RCV001354043 RCV001269300	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Capillary malformation-arteriovenous malformation syndrome	Pathogenic; Likely pathogenic	rs1762099168, rs2112223349, rs2112369549, rs2112222433, rs751951068, rs2112485022, rs2112517308, rs2112525375, rs1396225514, rs2112223340, rs2112517213, rs2112486996, rs2112369561, rs2112366112, rs2112490726, rs2112500780, rs2112492304, rs2112431809, rs2112495772, rs2112495582, rs2112365844, rs2112456363, rs2112490719, rs2112495617, rs2531359826, rs2531187455, rs1753690583, rs2531194989, rs2531003684, rs2531002366, rs2531255948, rs2531362861, rs2112457150, rs2531002170, rs2531380191, rs863223718, rs2531339089, rs2531395817, rs2531003868, rs2531339000, rs1758886526, rs2531362827, rs2531256481, rs2531342144, rs2531003866, rs2531395894, rs878854569, rs878854570, rs886041232, rs886041400, rs2531225738, rs2531342060, rs2531304891, rs2531212164, rs2531194790, rs2531003739, rs1580418269, rs2531192349, rs2531212404, rs2531256358, rs2531304828, rs2531003517, rs2531359738, rs2531373838, rs2531373996, rs781291507, rs2531003856, rs2531304808, rs2531404919, rs2531396047, rs2531350156, rs2531396312, rs2531355164, rs886060843, rs2531187256, rs2531300001, rs2531003554, rs2531003398, rs797044451, rs137853218, rs750421671, rs1060503441, rs1060503439, rs1060503440, rs1060503438, rs1554048066, rs1554049394, rs1554048061, rs1554049422, rs1554050230, rs747745016, rs1554049825, rs1554044823, rs1384480619, rs201249348, rs983011713, rs1347210621, rs1204340475, rs1759404954, rs1561316757, rs1561333645, rs1561300506, rs975191415, rs1463885690, rs1210180190, rs1580394003, rs1561322357, rs1757588488, rs1758886343, rs1759087658, rs1759093156, rs1761469547, rs1361155142, rs1761160392, rs1757676761, rs1187087405, rs1760265136, rs1761341113, rs1762317272, rs1761473113, rs1761994695, rs1759410564, rs1753698267, rs1761153296, rs1760184679	RCV005094382 RCV001378220 RCV001376839 RCV001388732 RCV001389350 RCV001380289 RCV001385020 RCV001381764 RCV005094795 RCV001866457 RCV001919825 RCV001878473 RCV002049066 RCV001958803 RCV002006121 RCV001937468 RCV002007328 RCV001962905 RCV002049925 RCV001877865 RCV002050167 RCV001972822 RCV003101395 RCV003094172 RCV003101707 RCV003079061 RCV002628544 RCV002811415 RCV002815483 RCV002815666 RCV002850941 RCV002863164 RCV002863344 RCV002908261 RCV002900326 RCV001853161 RCV002899334 RCV002941898 RCV002927403 RCV002975246 RCV003011090 RCV003015691 RCV003031018 RCV003031237 RCV003053499 RCV003046712 RCV003048388 RCV001382360 RCV002229344 RCV001060687 RCV005090328 RCV003594721 RCV003594798 RCV003594788 RCV003594814 RCV003595003 RCV003595551 RCV003595283 RCV003595598 RCV003595599 RCV003595600 RCV003593577 RCV003593612 RCV003593684 RCV003594334 RCV003594533 RCV003760889 RCV003760874 RCV003760737 RCV003760869 RCV003758233 RCV003760911 RCV003758420 RCV003758411 RCV003758358 RCV003758652 RCV003758606 RCV003759178 RCV003759505 RCV003760224 RCV002228029 RCV003764578 RCV003859198 RCV000468716 RCV002230639 RCV002230640 RCV002230638 RCV002527368 RCV003593977 RCV001232408 RCV001386102 RCV002231771 RCV002231768 RCV000533121 RCV002231775 RCV000640554 RCV002232790 RCV002232788 RCV002233116 RCV002232823 RCV002241651 RCV002233250 RCV002233425 RCV003758922 RCV001052132 RCV001855925 RCV002235551 RCV002234222 RCV003758955 RCV001059178 RCV001040542 RCV001063721 RCV001058236 RCV001040722 RCV001064155 RCV001055527 RCV001062257 RCV001225109 RCV001224362 RCV001225162 RCV001221578 RCV001212953 RCV001212783 RCV001216670 RCV001230539 RCV001241059 RCV001238578	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2112485022, rs2531341953, rs2531342144, rs2531350017, rs1762098966, rs2531187455, rs1753690583, rs863223718, rs2531360007, rs60835976, rs1554049422, rs1759093156	RCV002413910 RCV002421784 RCV002417357 RCV002446237 RCV002439993 RCV005714911 RCV006342857 RCV002415841 RCV003176467 RCV004516292 RCV005712191 RCV005470605	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Pathogenic	rs1761341362	RCV005909306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gorham-Stout disease	Pathogenic	rs797044451	RCV003156050	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hemorrhagic telangiectasia	Pathogenic	rs1762317272	RCV002254337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs886041400	RCV006273695	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs750421671	RCV005935087	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RASA1-related disorder	Pathogenic; Likely pathogenic	rs886041400, rs2531324128, rs2531187229, rs2531338258, rs1761341362, rs2531404825, rs2531304601, rs137853218, rs747745016, rs1463885690, rs1762317272	RCV003401226 RCV003391404 RCV003402574 RCV003402094 RCV003412412 RCV003404578 RCV003391552 RCV003894810 RCV003983112 RCV003396325 RCV004743333	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vascular malformation	Pathogenic	rs2531339000, rs137853218, rs1463885690	RCV005251333 RCV003458336 RCV003458513	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (30)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS HEMANGIOMA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOVENOUS MALFORMATIONS	—	CTD	14639529	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	12606953	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	27158780	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral venous angioma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL VENOUS ANOMALY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops fetalis	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KLIPPEL-TRENAUNAY-WEBER SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME	—	ClinGen, Disgenet ClinGen, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkes Weber syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet ClinVar, Disgenet, GWAS catalog, Orphanet	18446851, 18446851, 21348050, 21348050	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PORT-WINE STAIN	—	CTD, Disgenet CTD, Disgenet	14639529	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	25939597	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30297969, 32541925	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CCNH 7 shared diseasesCapillary malformation-arteriovenous malformation, Carcinoma, Developmental venous anomaly, Hereditary hemorrhagic telangiectasia, Hydrops fetalis, Klippel-trenaunay syndrome, Parkes weber syndrome 7 shared evidence sourcesDisgenet (Capillary malformation-arteriovenous malformation), CTD (Carcinoma), Disgenet (Developmental venous anomaly), Disgenet (Hereditary hemorrhagic telangiectasia), Disgenet (Hydrops fetalis), Disgenet (Klippel-trenaunay syndrome), Disgenet (Parkes weber syndrome) Related via 7 shared diseases including Capillary malformation-arteriovenous malformation, Carcinoma — evidence mostly Disgenet. GNAQ 3 shared diseasesCapillary malformation-arteriovenous malformation, Klippel-trenaunay syndrome, Port-wine stain 5 shared evidence sourcesCTD (Capillary malformation-arteriovenous malformation), HPO (Capillary malformation-arteriovenous malformation), Disgenet (Klippel-trenaunay syndrome), CTD (Port-wine stain), Disgenet (Port-wine stain) Related via 3 shared diseases including Capillary malformation-arteriovenous malformation, Klippel-trenaunay syndrome — evidence mostly CTD. RASA2 1 shared diseaseNoonan syndrome 3 shared pathwaysMAPK signaling pathway, Ras signaling pathway, Regulation of RAS by GAPs 2 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome) Related via 3 shared pathways including MAPK signaling pathway, Ras signaling pathway — evidence mostly ClinGen. RPL6 2 shared diseasesCarcinoma, Noonan syndrome 2 shared evidence sourcesCTD (Carcinoma), Disgenet (Noonan syndrome) Related via 2 shared diseases including Carcinoma, Noonan syndrome — evidence mostly CTD. EPHB4 1 shared diseaseCapillary malformation-arteriovenous malformation 2 shared pathwaysAxon guidance, EPHB-mediated forward signaling 5 shared evidence sourcesDisgenet (Capillary malformation-arteriovenous malformation), ClinVar (Capillary malformation-arteriovenous malformation), GenCC (Capillary malformation-arteriovenous malformation), HPO (Capillary malformation-arteriovenous malformation), GWAS catalog (Capillary malformation-arteriovenous malformation) Related via 2 shared pathways including Axon guidance, EPHB-mediated forward signaling — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CCNH	7	["Capillary malformation-arteriovenous malformation","Carcinoma","Developmental venous anomaly","Hereditary hemorrhagic telangiectasia","Hydrops fetalis","Klippel-trenaunay syndrome","Parkes weber syndrome"]	0	[]	7	["Disgenet (Capillary malformation-arteriovenous malformation)","CTD (Carcinoma)","Disgenet (Developmental venous anomaly)","Disgenet (Hereditary hemorrhagic telangiectasia)","Disgenet (Hydrops fetalis)","Disgenet (Klippel-trenaunay syndrome)","Disgenet (Parkes weber syndrome)"]
GNAQ	3	["Capillary malformation-arteriovenous malformation","Klippel-trenaunay syndrome","Port-wine stain"]	0	[]	5	["CTD (Capillary malformation-arteriovenous malformation)","HPO (Capillary malformation-arteriovenous malformation)","Disgenet (Klippel-trenaunay syndrome)","CTD (Port-wine stain)","Disgenet (Port-wine stain)"]
RASA2	1	["Noonan syndrome"]	3	["MAPK signaling pathway","Ras signaling pathway","Regulation of RAS by GAPs"]	2	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)"]
RPL6	2	["Carcinoma","Noonan syndrome"]	0	[]	2	["CTD (Carcinoma)","Disgenet (Noonan syndrome)"]
EPHB4	1	["Capillary malformation-arteriovenous malformation"]	2	["Axon guidance","EPHB-mediated forward signaling"]	5	["Disgenet (Capillary malformation-arteriovenous malformation)","ClinVar (Capillary malformation-arteriovenous malformation)","GenCC (Capillary malformation-arteriovenous malformation)","HPO (Capillary malformation-arteriovenous malformation)","GWAS catalog (Capillary malformation-arteriovenous malformation)"]

Diseases Linked via Similar Genes

Breast neoplasms Linked via 2 of 5 related genesCCNH, EPHB4 Melanoma Linked via 2 of 5 related genesGNAQ, RASA2 Alzheimer disease Linked via 2 of 5 related genesRPL6, EPHB4 Non-small-cell lung carcinoma Linked via 1 of 5 related genesCCNH Colonic neoplasms Linked via 1 of 5 related genesCCNH

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast neoplasms	2	["CCNH","EPHB4"]
Melanoma	2	["GNAQ","RASA2"]
Alzheimer disease	2	["RPL6","EPHB4"]
Non-small-cell lung carcinoma	1	["CCNH"]
Colonic neoplasms	1	["CCNH"]