GLDN (gliomedin)

Gene

• Entrez ID: 342035
• Gene name: Gliomedin
• Gene symbol: GLDN
• Synonyms (NCBI Gene): CLOM, COLM, CRG-L2, CRGL2, LCCS11, UNC-112, UNC-122
• Chromosome: 15
• Chromosome location: 15q21.2
• Summary: This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141816048	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs147954907	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs186935606	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, 5 prime UTR variant
rs199538582	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs368085516	C>A,G,T	Pathogenic	Missense variant, intron variant, synonymous variant, coding sequence variant, stop gained
rs376573993	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs539703340	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, intron variant
rs750803388	C>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs764239923	G>A,C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs775011495	G>A	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs779432560	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs886041056	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041057	G>A	Pathogenic	Splice donor variant
rs1555401209	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1595795307	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs1595795343	T>C	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025832	hsa-miR-7-5p	Microarray	17612493
MIRT497645	hsa-miR-29a-3p	PAR-CLIP	22291592
MIRT497644	hsa-miR-29b-3p	PAR-CLIP	22291592
MIRT497643	hsa-miR-29c-3p	PAR-CLIP	22291592
MIRT497642	hsa-miR-6871-3p	PAR-CLIP	22291592
MIRT497641	hsa-miR-103b	PAR-CLIP	22291592
MIRT497640	hsa-miR-1914-5p	PAR-CLIP	22291592
MIRT497639	hsa-miR-5008-3p	PAR-CLIP	22291592
MIRT497638	hsa-miR-6737-3p	PAR-CLIP	22291592
MIRT497637	hsa-miR-7157-3p	PAR-CLIP	22291592
MIRT497636	hsa-miR-6804-3p	PAR-CLIP	22291592
MIRT497635	hsa-miR-4804-3p	PAR-CLIP	22291592
MIRT497634	hsa-miR-4720-3p	PAR-CLIP	22291592
MIRT497633	hsa-miR-636	PAR-CLIP	22291592
MIRT497632	hsa-miR-5682	PAR-CLIP	22291592
MIRT497631	hsa-miR-218-5p	PAR-CLIP	22291592
MIRT497645	hsa-miR-29a-3p	PAR-CLIP	22291592
MIRT497644	hsa-miR-29b-3p	PAR-CLIP	22291592
MIRT497643	hsa-miR-29c-3p	PAR-CLIP	22291592
MIRT497642	hsa-miR-6871-3p	PAR-CLIP	22291592
MIRT497641	hsa-miR-103b	PAR-CLIP	22291592
MIRT497640	hsa-miR-1914-5p	PAR-CLIP	22291592
MIRT497639	hsa-miR-5008-3p	PAR-CLIP	22291592
MIRT497638	hsa-miR-6737-3p	PAR-CLIP	22291592
MIRT497637	hsa-miR-7157-3p	PAR-CLIP	22291592
MIRT497636	hsa-miR-6804-3p	PAR-CLIP	22291592
MIRT497635	hsa-miR-4804-3p	PAR-CLIP	22291592
MIRT497634	hsa-miR-4720-3p	PAR-CLIP	22291592
MIRT497633	hsa-miR-636	PAR-CLIP	22291592
MIRT497632	hsa-miR-5682	PAR-CLIP	22291592
MIRT497631	hsa-miR-218-5p	PAR-CLIP	22291592
MIRT1020648	hsa-miR-1972	CLIP-seq
MIRT1020649	hsa-miR-21	CLIP-seq
MIRT1020650	hsa-miR-214	CLIP-seq
MIRT1020651	hsa-miR-2467-3p	CLIP-seq
MIRT1020652	hsa-miR-3153	CLIP-seq
MIRT1020653	hsa-miR-3619-5p	CLIP-seq
MIRT1020654	hsa-miR-3653	CLIP-seq
MIRT1020655	hsa-miR-3678-3p	CLIP-seq
MIRT1020656	hsa-miR-3908	CLIP-seq
MIRT1020657	hsa-miR-4261	CLIP-seq
MIRT1020658	hsa-miR-4291	CLIP-seq
MIRT1020659	hsa-miR-4432	CLIP-seq
MIRT1020660	hsa-miR-4433	CLIP-seq
MIRT1020661	hsa-miR-4434	CLIP-seq
MIRT1020662	hsa-miR-4516	CLIP-seq
MIRT1020663	hsa-miR-451b	CLIP-seq
MIRT1020664	hsa-miR-455-5p	CLIP-seq
MIRT1020665	hsa-miR-4646-5p	CLIP-seq
MIRT1020666	hsa-miR-4650-5p	CLIP-seq
MIRT1020667	hsa-miR-4668-5p	CLIP-seq
MIRT1020668	hsa-miR-4696	CLIP-seq
MIRT1020669	hsa-miR-4768-3p	CLIP-seq
MIRT1020670	hsa-miR-494	CLIP-seq
MIRT1020671	hsa-miR-500a	CLIP-seq
MIRT1020672	hsa-miR-501-5p	CLIP-seq
MIRT1020673	hsa-miR-5096	CLIP-seq
MIRT1020674	hsa-miR-548p	CLIP-seq
MIRT1020675	hsa-miR-548u	CLIP-seq
MIRT1020676	hsa-miR-590-5p	CLIP-seq
MIRT1020677	hsa-miR-646	CLIP-seq
MIRT1020678	hsa-miR-661	CLIP-seq
MIRT1020679	hsa-miR-665	CLIP-seq
MIRT1020680	hsa-miR-759	CLIP-seq
MIRT1020681	hsa-miR-761	CLIP-seq
MIRT1020682	hsa-miR-922	CLIP-seq
MIRT2002290	hsa-miR-1279	CLIP-seq
MIRT2002291	hsa-miR-181a	CLIP-seq
MIRT2002292	hsa-miR-181b	CLIP-seq
MIRT2002293	hsa-miR-181c	CLIP-seq
MIRT2002294	hsa-miR-181d	CLIP-seq
MIRT2002295	hsa-miR-3122	CLIP-seq
MIRT1020652	hsa-miR-3153	CLIP-seq
MIRT2002296	hsa-miR-3614-5p	CLIP-seq
MIRT2002297	hsa-miR-3617	CLIP-seq
MIRT2002298	hsa-miR-3689a-3p	CLIP-seq
MIRT2002299	hsa-miR-3689c	CLIP-seq
MIRT2002300	hsa-miR-3714	CLIP-seq
MIRT2002301	hsa-miR-3913-5p	CLIP-seq
MIRT1020657	hsa-miR-4261	CLIP-seq
MIRT2002302	hsa-miR-4262	CLIP-seq
MIRT2002303	hsa-miR-4310	CLIP-seq
MIRT2002304	hsa-miR-4459	CLIP-seq
MIRT2002305	hsa-miR-4474-3p	CLIP-seq
MIRT1020665	hsa-miR-4646-5p	CLIP-seq
MIRT1020667	hsa-miR-4668-5p	CLIP-seq
MIRT2002306	hsa-miR-4722-5p	CLIP-seq
MIRT2002307	hsa-miR-4728-5p	CLIP-seq
MIRT2002308	hsa-miR-4760-5p	CLIP-seq
MIRT1020670	hsa-miR-494	CLIP-seq
MIRT2002309	hsa-miR-518a-5p	CLIP-seq
MIRT2002310	hsa-miR-527	CLIP-seq
MIRT2002311	hsa-miR-641	CLIP-seq
MIRT1020678	hsa-miR-661	CLIP-seq
MIRT2002312	hsa-miR-940	CLIP-seq
MIRT2235288	hsa-miR-1254	CLIP-seq
MIRT1020650	hsa-miR-214	CLIP-seq
MIRT2235289	hsa-miR-22	CLIP-seq
MIRT2235290	hsa-miR-2277-3p	CLIP-seq
MIRT2235291	hsa-miR-3116	CLIP-seq
MIRT2235292	hsa-miR-3120-3p	CLIP-seq
MIRT2002295	hsa-miR-3122	CLIP-seq
MIRT2235293	hsa-miR-3144-5p	CLIP-seq
MIRT2235294	hsa-miR-3191	CLIP-seq
MIRT2235295	hsa-miR-329	CLIP-seq
MIRT2235296	hsa-miR-338-3p	CLIP-seq
MIRT2002296	hsa-miR-3614-5p	CLIP-seq
MIRT1020653	hsa-miR-3619-5p	CLIP-seq
MIRT2235297	hsa-miR-362-3p	CLIP-seq
MIRT2002298	hsa-miR-3689a-3p	CLIP-seq
MIRT2002299	hsa-miR-3689c	CLIP-seq
MIRT2002300	hsa-miR-3714	CLIP-seq
MIRT2002301	hsa-miR-3913-5p	CLIP-seq
MIRT2235298	hsa-miR-3941	CLIP-seq
MIRT2235299	hsa-miR-3942-3p	CLIP-seq
MIRT1020658	hsa-miR-4291	CLIP-seq
MIRT2002303	hsa-miR-4310	CLIP-seq
MIRT2002304	hsa-miR-4459	CLIP-seq
MIRT2235300	hsa-miR-4652-5p	CLIP-seq
MIRT2235301	hsa-miR-4667-5p	CLIP-seq
MIRT2235302	hsa-miR-4700-5p	CLIP-seq
MIRT2235303	hsa-miR-4719	CLIP-seq
MIRT2002306	hsa-miR-4722-5p	CLIP-seq
MIRT2002307	hsa-miR-4728-5p	CLIP-seq
MIRT2235304	hsa-miR-4766-5p	CLIP-seq
MIRT2235305	hsa-miR-545	CLIP-seq
MIRT2235306	hsa-miR-561	CLIP-seq
MIRT2235307	hsa-miR-603	CLIP-seq
MIRT1020678	hsa-miR-661	CLIP-seq
MIRT1020681	hsa-miR-761	CLIP-seq
MIRT1020682	hsa-miR-922	CLIP-seq
MIRT2002312	hsa-miR-940	CLIP-seq
MIRT2002298	hsa-miR-3689a-3p	CLIP-seq
MIRT2002299	hsa-miR-3689c	CLIP-seq
MIRT2002307	hsa-miR-4728-5p	CLIP-seq
MIRT2450326	hsa-miR-1243	CLIP-seq
MIRT2450327	hsa-miR-28-5p	CLIP-seq
MIRT2002295	hsa-miR-3122	CLIP-seq
MIRT2450328	hsa-miR-3139	CLIP-seq
MIRT2235296	hsa-miR-338-3p	CLIP-seq
MIRT2002298	hsa-miR-3689a-3p	CLIP-seq
MIRT2002299	hsa-miR-3689c	CLIP-seq
MIRT2002301	hsa-miR-3913-5p	CLIP-seq
MIRT2450329	hsa-miR-4266	CLIP-seq
MIRT2002303	hsa-miR-4310	CLIP-seq
MIRT2450330	hsa-miR-4320	CLIP-seq
MIRT2450331	hsa-miR-4530	CLIP-seq
MIRT2002307	hsa-miR-4728-5p	CLIP-seq
MIRT2450332	hsa-miR-651	CLIP-seq
MIRT2450333	hsa-miR-708	CLIP-seq
MIRT2002295	hsa-miR-3122	CLIP-seq
MIRT2235296	hsa-miR-338-3p	CLIP-seq
MIRT2002298	hsa-miR-3689a-3p	CLIP-seq
MIRT2002299	hsa-miR-3689c	CLIP-seq
MIRT2002301	hsa-miR-3913-5p	CLIP-seq
MIRT2002303	hsa-miR-4310	CLIP-seq
MIRT2450331	hsa-miR-4530	CLIP-seq
MIRT2002307	hsa-miR-4728-5p	CLIP-seq
MIRT2539034	hsa-miR-1185	CLIP-seq
MIRT2539035	hsa-miR-1206	CLIP-seq
MIRT2539036	hsa-miR-1245	CLIP-seq
MIRT2235288	hsa-miR-1254	CLIP-seq
MIRT2539037	hsa-miR-1278	CLIP-seq
MIRT2539038	hsa-miR-1303	CLIP-seq
MIRT2539039	hsa-miR-134	CLIP-seq
MIRT2539040	hsa-miR-1587	CLIP-seq
MIRT2539041	hsa-miR-219-2-3p	CLIP-seq
MIRT2235289	hsa-miR-22	CLIP-seq
MIRT2235290	hsa-miR-2277-3p	CLIP-seq
MIRT2539042	hsa-miR-2278	CLIP-seq
MIRT2235291	hsa-miR-3116	CLIP-seq
MIRT2539043	hsa-miR-3118	CLIP-seq
MIRT2002295	hsa-miR-3122	CLIP-seq
MIRT2539044	hsa-miR-3127-5p	CLIP-seq
MIRT2539045	hsa-miR-3136-3p	CLIP-seq
MIRT2235293	hsa-miR-3144-5p	CLIP-seq
MIRT2539046	hsa-miR-3145-3p	CLIP-seq
MIRT2539047	hsa-miR-3156-5p	CLIP-seq
MIRT2539048	hsa-miR-3164	CLIP-seq
MIRT2539049	hsa-miR-3168	CLIP-seq
MIRT2539050	hsa-miR-3176	CLIP-seq
MIRT2235294	hsa-miR-3191	CLIP-seq
MIRT2539051	hsa-miR-3200-5p	CLIP-seq
MIRT2235296	hsa-miR-338-3p	CLIP-seq
MIRT2539052	hsa-miR-340	CLIP-seq
MIRT2539053	hsa-miR-3605-5p	CLIP-seq
MIRT2539054	hsa-miR-3646	CLIP-seq
MIRT1020654	hsa-miR-3653	CLIP-seq
MIRT2539055	hsa-miR-3679-5p	CLIP-seq
MIRT2539056	hsa-miR-3681	CLIP-seq
MIRT2002298	hsa-miR-3689a-3p	CLIP-seq
MIRT2002299	hsa-miR-3689c	CLIP-seq
MIRT2002300	hsa-miR-3714	CLIP-seq
MIRT2539057	hsa-miR-378g	CLIP-seq
MIRT2539058	hsa-miR-383	CLIP-seq
MIRT2539059	hsa-miR-3913-3p	CLIP-seq
MIRT2002301	hsa-miR-3913-5p	CLIP-seq
MIRT2539060	hsa-miR-3922-3p	CLIP-seq
MIRT2235298	hsa-miR-3941	CLIP-seq
MIRT2539061	hsa-miR-3978	CLIP-seq
MIRT2539062	hsa-miR-4255	CLIP-seq
MIRT2539063	hsa-miR-4270	CLIP-seq
MIRT2539064	hsa-miR-4276	CLIP-seq
MIRT2539065	hsa-miR-4277	CLIP-seq
MIRT2539066	hsa-miR-4302	CLIP-seq
MIRT2002303	hsa-miR-4310	CLIP-seq
MIRT2539067	hsa-miR-433	CLIP-seq
MIRT2539068	hsa-miR-4426	CLIP-seq
MIRT1020661	hsa-miR-4434	CLIP-seq
MIRT2539069	hsa-miR-4441	CLIP-seq
MIRT2539070	hsa-miR-4492	CLIP-seq
MIRT2539071	hsa-miR-4498	CLIP-seq
MIRT1020662	hsa-miR-4516	CLIP-seq
MIRT2539072	hsa-miR-452	CLIP-seq
MIRT2450331	hsa-miR-4530	CLIP-seq
MIRT2539073	hsa-miR-4647	CLIP-seq
MIRT2539074	hsa-miR-4649-3p	CLIP-seq
MIRT2539075	hsa-miR-4652-3p	CLIP-seq
MIRT2235300	hsa-miR-4652-5p	CLIP-seq
MIRT2539076	hsa-miR-4656	CLIP-seq
MIRT2539077	hsa-miR-466	CLIP-seq
MIRT2539078	hsa-miR-4662b	CLIP-seq
MIRT2235301	hsa-miR-4667-5p	CLIP-seq
MIRT2539079	hsa-miR-4672	CLIP-seq
MIRT2539080	hsa-miR-4675	CLIP-seq
MIRT2539081	hsa-miR-4676-3p	CLIP-seq
MIRT2235302	hsa-miR-4700-5p	CLIP-seq
MIRT2539082	hsa-miR-4712-3p	CLIP-seq
MIRT2539083	hsa-miR-4715-3p	CLIP-seq
MIRT2002307	hsa-miR-4728-5p	CLIP-seq
MIRT2539084	hsa-miR-4741	CLIP-seq
MIRT2539085	hsa-miR-4752	CLIP-seq
MIRT2539086	hsa-miR-4765	CLIP-seq
MIRT2235304	hsa-miR-4766-5p	CLIP-seq
MIRT1020669	hsa-miR-4768-3p	CLIP-seq
MIRT2539087	hsa-miR-489	CLIP-seq
MIRT1020673	hsa-miR-5096	CLIP-seq
MIRT2539088	hsa-miR-519a	CLIP-seq
MIRT2539089	hsa-miR-519b-3p	CLIP-seq
MIRT2539090	hsa-miR-519c-3p	CLIP-seq
MIRT2539091	hsa-miR-548a-3p	CLIP-seq
MIRT2539092	hsa-miR-548e	CLIP-seq
MIRT2539093	hsa-miR-548f	CLIP-seq
MIRT2539094	hsa-miR-579	CLIP-seq
MIRT2539095	hsa-miR-640	CLIP-seq
MIRT2539096	hsa-miR-659	CLIP-seq
MIRT1020678	hsa-miR-661	CLIP-seq
MIRT2539097	hsa-miR-758	CLIP-seq
MIRT1020680	hsa-miR-759	CLIP-seq
MIRT2539098	hsa-miR-760	CLIP-seq
MIRT2539099	hsa-miR-762	CLIP-seq
MIRT2539100	hsa-miR-891b	CLIP-seq
MIRT2539101	hsa-miR-9	CLIP-seq
MIRT2539102	hsa-miR-939	CLIP-seq
MIRT2002312	hsa-miR-940	CLIP-seq
MIRT2539103	hsa-miR-943	CLIP-seq
MIRT2681599	hsa-miR-106a	CLIP-seq
MIRT2681600	hsa-miR-106b	CLIP-seq
MIRT2539034	hsa-miR-1185	CLIP-seq
MIRT2681601	hsa-miR-1236	CLIP-seq
MIRT2539036	hsa-miR-1245	CLIP-seq
MIRT2235288	hsa-miR-1254	CLIP-seq
MIRT2539037	hsa-miR-1278	CLIP-seq
MIRT2539038	hsa-miR-1303	CLIP-seq
MIRT2539039	hsa-miR-134	CLIP-seq
MIRT2681602	hsa-miR-141	CLIP-seq
MIRT2681603	hsa-miR-144	CLIP-seq
MIRT2539040	hsa-miR-1587	CLIP-seq
MIRT2681604	hsa-miR-17	CLIP-seq
MIRT2681605	hsa-miR-200a	CLIP-seq
MIRT2681606	hsa-miR-20a	CLIP-seq
MIRT2681607	hsa-miR-20b	CLIP-seq
MIRT2681608	hsa-miR-2115	CLIP-seq
MIRT2539041	hsa-miR-219-2-3p	CLIP-seq
MIRT2235289	hsa-miR-22	CLIP-seq
MIRT2235290	hsa-miR-2277-3p	CLIP-seq
MIRT2539042	hsa-miR-2278	CLIP-seq
MIRT2681609	hsa-miR-302a	CLIP-seq
MIRT2681610	hsa-miR-302b	CLIP-seq
MIRT2681611	hsa-miR-302c	CLIP-seq
MIRT2681612	hsa-miR-302d	CLIP-seq
MIRT2681613	hsa-miR-302e	CLIP-seq
MIRT2235291	hsa-miR-3116	CLIP-seq
MIRT2539043	hsa-miR-3118	CLIP-seq
MIRT2002295	hsa-miR-3122	CLIP-seq
MIRT2539044	hsa-miR-3127-5p	CLIP-seq
MIRT2539045	hsa-miR-3136-3p	CLIP-seq
MIRT2235293	hsa-miR-3144-5p	CLIP-seq
MIRT2539046	hsa-miR-3145-3p	CLIP-seq
MIRT1020652	hsa-miR-3153	CLIP-seq
MIRT2539047	hsa-miR-3156-5p	CLIP-seq
MIRT2539048	hsa-miR-3164	CLIP-seq
MIRT2539049	hsa-miR-3168	CLIP-seq
MIRT2539050	hsa-miR-3176	CLIP-seq
MIRT2681614	hsa-miR-3182	CLIP-seq
MIRT2681615	hsa-miR-3183	CLIP-seq
MIRT2235294	hsa-miR-3191	CLIP-seq
MIRT2539051	hsa-miR-3200-5p	CLIP-seq
MIRT2235296	hsa-miR-338-3p	CLIP-seq
MIRT2539052	hsa-miR-340	CLIP-seq
MIRT2539053	hsa-miR-3605-5p	CLIP-seq
MIRT2539054	hsa-miR-3646	CLIP-seq
MIRT1020654	hsa-miR-3653	CLIP-seq
MIRT2539055	hsa-miR-3679-5p	CLIP-seq
MIRT2539056	hsa-miR-3681	CLIP-seq
MIRT2002298	hsa-miR-3689a-3p	CLIP-seq
MIRT2002299	hsa-miR-3689c	CLIP-seq
MIRT2002300	hsa-miR-3714	CLIP-seq
MIRT2681616	hsa-miR-372	CLIP-seq
MIRT2681617	hsa-miR-373	CLIP-seq
MIRT2539057	hsa-miR-378g	CLIP-seq
MIRT2539058	hsa-miR-383	CLIP-seq
MIRT2539059	hsa-miR-3913-3p	CLIP-seq
MIRT2002301	hsa-miR-3913-5p	CLIP-seq
MIRT2539060	hsa-miR-3922-3p	CLIP-seq
MIRT2235298	hsa-miR-3941	CLIP-seq
MIRT2539061	hsa-miR-3978	CLIP-seq
MIRT2539062	hsa-miR-4255	CLIP-seq
MIRT1020657	hsa-miR-4261	CLIP-seq
MIRT2539063	hsa-miR-4270	CLIP-seq
MIRT2539064	hsa-miR-4276	CLIP-seq
MIRT2539065	hsa-miR-4277	CLIP-seq
MIRT2539066	hsa-miR-4302	CLIP-seq
MIRT2002303	hsa-miR-4310	CLIP-seq
MIRT2539068	hsa-miR-4426	CLIP-seq
MIRT1020661	hsa-miR-4434	CLIP-seq
MIRT2539069	hsa-miR-4441	CLIP-seq
MIRT2539070	hsa-miR-4492	CLIP-seq
MIRT2539071	hsa-miR-4498	CLIP-seq
MIRT1020662	hsa-miR-4516	CLIP-seq
MIRT1020663	hsa-miR-451b	CLIP-seq
MIRT2539072	hsa-miR-452	CLIP-seq
MIRT2450331	hsa-miR-4530	CLIP-seq
MIRT2681618	hsa-miR-4539	CLIP-seq
MIRT1020665	hsa-miR-4646-5p	CLIP-seq
MIRT2539073	hsa-miR-4647	CLIP-seq
MIRT2539074	hsa-miR-4649-3p	CLIP-seq
MIRT2235300	hsa-miR-4652-5p	CLIP-seq
MIRT2539076	hsa-miR-4656	CLIP-seq
MIRT2539077	hsa-miR-466	CLIP-seq
MIRT2539078	hsa-miR-4662b	CLIP-seq
MIRT2235301	hsa-miR-4667-5p	CLIP-seq
MIRT1020667	hsa-miR-4668-5p	CLIP-seq
MIRT2539079	hsa-miR-4672	CLIP-seq
MIRT2539080	hsa-miR-4675	CLIP-seq
MIRT2539081	hsa-miR-4676-3p	CLIP-seq
MIRT2681619	hsa-miR-4694-3p	CLIP-seq
MIRT2235302	hsa-miR-4700-5p	CLIP-seq
MIRT2539082	hsa-miR-4712-3p	CLIP-seq
MIRT2539083	hsa-miR-4715-3p	CLIP-seq
MIRT2235303	hsa-miR-4719	CLIP-seq
MIRT2681620	hsa-miR-4723-3p	CLIP-seq
MIRT2002307	hsa-miR-4728-5p	CLIP-seq
MIRT2539084	hsa-miR-4741	CLIP-seq
MIRT2539085	hsa-miR-4752	CLIP-seq
MIRT2539086	hsa-miR-4765	CLIP-seq
MIRT2235304	hsa-miR-4766-5p	CLIP-seq
MIRT1020669	hsa-miR-4768-3p	CLIP-seq
MIRT2539087	hsa-miR-489	CLIP-seq
MIRT1020670	hsa-miR-494	CLIP-seq
MIRT1020673	hsa-miR-5096	CLIP-seq
MIRT2681621	hsa-miR-516a-3p	CLIP-seq
MIRT2002309	hsa-miR-518a-5p	CLIP-seq
MIRT2539088	hsa-miR-519a	CLIP-seq
MIRT2539089	hsa-miR-519b-3p	CLIP-seq
MIRT2539090	hsa-miR-519c-3p	CLIP-seq
MIRT2681622	hsa-miR-519d	CLIP-seq
MIRT2681623	hsa-miR-520a-3p	CLIP-seq
MIRT2681624	hsa-miR-520b	CLIP-seq
MIRT2681625	hsa-miR-520c-3p	CLIP-seq
MIRT2681626	hsa-miR-520d-3p	CLIP-seq
MIRT2681627	hsa-miR-520e	CLIP-seq
MIRT2681628	hsa-miR-520f	CLIP-seq
MIRT2681629	hsa-miR-520g	CLIP-seq
MIRT2681630	hsa-miR-520h	CLIP-seq
MIRT2002310	hsa-miR-527	CLIP-seq
MIRT2539091	hsa-miR-548a-3p	CLIP-seq
MIRT2539092	hsa-miR-548e	CLIP-seq
MIRT2539093	hsa-miR-548f	CLIP-seq
MIRT2539094	hsa-miR-579	CLIP-seq
MIRT2539096	hsa-miR-659	CLIP-seq
MIRT1020678	hsa-miR-661	CLIP-seq
MIRT2539097	hsa-miR-758	CLIP-seq
MIRT1020680	hsa-miR-759	CLIP-seq
MIRT2539098	hsa-miR-760	CLIP-seq
MIRT2539099	hsa-miR-762	CLIP-seq
MIRT2539100	hsa-miR-891b	CLIP-seq
MIRT2539101	hsa-miR-9	CLIP-seq
MIRT2681631	hsa-miR-93	CLIP-seq
MIRT2539102	hsa-miR-939	CLIP-seq
MIRT2539103	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	27616481
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0032528	Process	Microvillus organization	IEA
GO:0034113	Process	Heterotypic cell-cell adhesion	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045162	Process	Clustering of voltage-gated sodium channels	IEA
GO:0086080	Function	Protein binding involved in heterotypic cell-cell adhesion	IEA

Other IDs

• MIM: 608603
• HGNC: 29514
• e!Ensembl: ENSG00000186417

Protein

• UniProt ID: Q6ZMI3
• Protein name: Gliomedin [Cleaved into: Gliomedin shedded ectodomain]
• Protein function: Ligand for NRCAM and NFASC/neurofascin that plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Mediates interaction between Schwann cell microvilli and axons via its interactions with NRCAM and NFASC. Node
• PDB: 5YBY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	136 → 193	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	166 → 225	Collagen triple helix repeat (20 copies)	Repeat
  PF02191	OLF	304 → 544	Olfactomedin-like domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in spinal cord, brain, placenta and sciatic nerve. More abundant in peripheral than central nervous system. {ECO:0000269|PubMed:16039564}.
• Sequence:

  MARGAEGGRGDAGWGLRGALAAVALLSALNAAGTVFALCQWRGLSSALRALEAQRGREQR
  EDSALRSFLAELSRAPRGASAPPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMV
  PIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDGQPGPQGPKGEKGANGKRGKM
  GIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSNDVLLAGAKGDQGPPGP
  PGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQA
  ESMITSIGNPVQVLKVTETFGTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSY
  TFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRFEFGQETSQTLKLENALYFDRKYLFAN
  SKTYFNLAVDEKGLWIIYASSVDGSSILVAQLDERTFSVVQHVNTTYPKSKAGNAFIARG
  ILYVTDTKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLY
  PVQFLSTTLNQ

• Sequence length: 551

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arthrogryposis multiplex congenita	Likely pathogenic; Pathogenic	rs750803388	RCV000855464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breathing dysregulation	Likely pathogenic; Pathogenic	rs775011495	RCV000627011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital contracture	Likely pathogenic; Pathogenic	rs775011495	RCV000627011	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs750803388, rs376573993	RCV000855464 RCV001842583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Flexion contracture	Likely pathogenic; Pathogenic	rs775011495	RCV000627012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLDN-related disorder	Likely pathogenic; Pathogenic	rs149543159, rs755420151	RCV003402129 RCV003425916	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lethal congenital contracture syndrome 11	Likely pathogenic; Pathogenic	rs1016861963, rs886041056, rs764239923, rs779432560, rs539703340, rs886041057, rs368085516, rs1412227116, rs2542882268, rs2542883131, rs750803388, rs775011495, rs1595795343, rs1595795307, rs755420151, rs2037658180, rs2038250738	RCV001530479 RCV000258844 RCV000258820 RCV000258834 RCV000258845 RCV000258824 RCV000258837 RCV003444159 RCV003493231 RCV004595175 RCV004594071 RCV000578440 RCV000995555 RCV001004895 RCV001089948 RCV001172314 RCV001251182	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple joint contractures	Pathogenic; Likely pathogenic	rs539703340, rs867806350	RCV001257373 RCV001257374	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyhydramnios	Pathogenic; Likely pathogenic	rs539703340, rs775011495, rs867806350	RCV001257373 RCV000627011 RCV001257374	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aromatase deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF CLAVICLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF FOREARM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF SCAPULA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF WRIST	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF GLENOHUMERAL JOINT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL JOINT CONTRACTURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE OF MULTIPLE JOINTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERICARDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ALDOSTERONISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthrogryposis	Arthrogryposis	Pubtator	27616481, 33820833	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG	31680123		★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	33820833	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24324964	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32644941	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32323816	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17827443, 22320986	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	30582947		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	25283719		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32407592	Associate	★☆☆☆☆ Found in Text Mining only
LETHAL CONGENITAL CONTRACTURE SYNDROME 11	Lethal Congenital Contracture Syndrome	GENOMICS_ENGLAND_DG	27616481		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LETHAL CONGENITAL CONTRACTURE SYNDROME 11	Lethal Congenital Contracture Syndrome	UNIPROT_DG	27616481		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LETHAL CONGENITAL CONTRACTURE SYNDROME 11	Lethal Congenital Contracture Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LETHAL CONGENITAL CONTRACTURE SYNDROME 11	Lethal Congenital Contracture Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	12642876		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12642876		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12642876		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30582947		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12642876, 25017791		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27616481		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27616481	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29228205	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35328002	Associate	★☆☆☆☆ Found in Text Mining only