GDAP1 (ganglioside induced differentiation associated protein 1)

Gene

• Entrez ID: 54332
• Gene name: Ganglioside induced differentiation associated protein 1
• Gene symbol: GDAP1
• Synonyms (NCBI Gene): CMT4, CMT4A, CMTRIA
• Chromosome: 8
• Chromosome location: 8q21.11
• Summary: This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937906	C>T	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs104894075	C>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs104894076	G>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894077	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained
rs104894078	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs104894079	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894080	C>T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs121908112	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant
rs121908113	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs121908114	C>T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs121908115	G>A,C	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs139808557	G>A	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs202010117	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant
rs267606842	A>C,T	Pathogenic, uncertain-significance	Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs281865060	T>C,G	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs397515432	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs397515441	C>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs397515442	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs397515443	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs538412810	C>A,T	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs745663149	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs756121249	T>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs756461496	->T	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant
rs761035569	C>T	Pathogenic, uncertain-significance	Intron variant, 5 prime UTR variant, coding sequence variant, stop gained
rs770501034	C>T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, intron variant, coding sequence variant
rs778547659	A>-	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs780828430	G>-	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs786205590	C>G	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs786205591	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs863224875	A>-	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs864622501	G>A	Uncertain-significance, pathogenic	Splice donor variant
rs879254192	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant
rs886041386	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs896431562	A>G,T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs936681187	C>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1060500978	G>-	Likely-pathogenic, uncertain-significance, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant
rs1060500979	A>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1064793135	A>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1221804567	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1323153568	G>A	Pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1474390668	A>G,T	Pathogenic	Initiator codon variant, 5 prime UTR variant, missense variant
rs1476856429	A>G	Pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs1554547986	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1554548334	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1586794308	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1586795440	A>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1586803063	->T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, frameshift variant
rs1586807410	->A	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1586807529	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1586807541	C>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005747	hsa-miR-203a-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR	20827281
MIRT005751	hsa-miR-26a-5p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT005752	hsa-miR-200a-3p	Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	20827281
MIRT020027	hsa-miR-375	Microarray	20215506
MIRT030243	hsa-miR-26b-5p	Microarray	19088304
MIRT050800	hsa-miR-17-5p	CLASH	23622248
MIRT1015226	hsa-let-7a	CLIP-seq
MIRT1015227	hsa-let-7b	CLIP-seq
MIRT1015228	hsa-let-7c	CLIP-seq
MIRT1015229	hsa-let-7d	CLIP-seq
MIRT1015230	hsa-let-7e	CLIP-seq
MIRT1015231	hsa-let-7f	CLIP-seq
MIRT1015232	hsa-let-7g	CLIP-seq
MIRT1015233	hsa-let-7i	CLIP-seq
MIRT1015234	hsa-miR-1237	CLIP-seq
MIRT1015235	hsa-miR-1245b-3p	CLIP-seq
MIRT1015236	hsa-miR-1248	CLIP-seq
MIRT1015237	hsa-miR-1254	CLIP-seq
MIRT1015238	hsa-miR-1255a	CLIP-seq
MIRT1015239	hsa-miR-1255b	CLIP-seq
MIRT1015240	hsa-miR-1279	CLIP-seq
MIRT1015241	hsa-miR-1294	CLIP-seq
MIRT1015242	hsa-miR-129-5p	CLIP-seq
MIRT1015243	hsa-miR-1297	CLIP-seq
MIRT1015244	hsa-miR-141	CLIP-seq
MIRT1015245	hsa-miR-142-5p	CLIP-seq
MIRT1015246	hsa-miR-186	CLIP-seq
MIRT1015247	hsa-miR-194	CLIP-seq
MIRT1015248	hsa-miR-200a	CLIP-seq
MIRT1015249	hsa-miR-202	CLIP-seq
MIRT1015250	hsa-miR-203	CLIP-seq
MIRT1015251	hsa-miR-208a	CLIP-seq
MIRT1015252	hsa-miR-208b	CLIP-seq
MIRT1015253	hsa-miR-22	CLIP-seq
MIRT1015254	hsa-miR-2682	CLIP-seq
MIRT1015255	hsa-miR-26a	CLIP-seq
MIRT1015256	hsa-miR-26b	CLIP-seq
MIRT1015257	hsa-miR-2909	CLIP-seq
MIRT1015258	hsa-miR-296-3p	CLIP-seq
MIRT1015259	hsa-miR-299-5p	CLIP-seq
MIRT1015260	hsa-miR-3064-3p	CLIP-seq
MIRT1015261	hsa-miR-3116	CLIP-seq
MIRT1015262	hsa-miR-3129-3p	CLIP-seq
MIRT1015263	hsa-miR-3133	CLIP-seq
MIRT1015264	hsa-miR-3146	CLIP-seq
MIRT1015265	hsa-miR-3152-5p	CLIP-seq
MIRT1015266	hsa-miR-3160-3p	CLIP-seq
MIRT1015267	hsa-miR-337-3p	CLIP-seq
MIRT1015268	hsa-miR-340	CLIP-seq
MIRT1015269	hsa-miR-34c-3p	CLIP-seq
MIRT1015270	hsa-miR-3545-3p	CLIP-seq
MIRT1015271	hsa-miR-3663-3p	CLIP-seq
MIRT1015272	hsa-miR-3664-5p	CLIP-seq
MIRT1015273	hsa-miR-3675-3p	CLIP-seq
MIRT1015274	hsa-miR-3682-3p	CLIP-seq
MIRT1015275	hsa-miR-3689d	CLIP-seq
MIRT1015276	hsa-miR-3692	CLIP-seq
MIRT1015277	hsa-miR-371-5p	CLIP-seq
MIRT1015278	hsa-miR-374c	CLIP-seq
MIRT1015279	hsa-miR-3942-3p	CLIP-seq
MIRT1015280	hsa-miR-3973	CLIP-seq
MIRT1015281	hsa-miR-4252	CLIP-seq
MIRT1015282	hsa-miR-4254	CLIP-seq
MIRT1015283	hsa-miR-4263	CLIP-seq
MIRT1015284	hsa-miR-4275	CLIP-seq
MIRT1015285	hsa-miR-4282	CLIP-seq
MIRT1015286	hsa-miR-4303	CLIP-seq
MIRT1015287	hsa-miR-4316	CLIP-seq
MIRT1015288	hsa-miR-4432	CLIP-seq
MIRT1015289	hsa-miR-4458	CLIP-seq
MIRT1015290	hsa-miR-4465	CLIP-seq
MIRT1015291	hsa-miR-4477a	CLIP-seq
MIRT1015292	hsa-miR-4487	CLIP-seq
MIRT1015293	hsa-miR-449c	CLIP-seq
MIRT1015294	hsa-miR-4500	CLIP-seq
MIRT1015295	hsa-miR-4511	CLIP-seq
MIRT1015296	hsa-miR-4514	CLIP-seq
MIRT1015297	hsa-miR-4633-3p	CLIP-seq
MIRT1015298	hsa-miR-4692	CLIP-seq
MIRT1015299	hsa-miR-4694-3p	CLIP-seq
MIRT1015300	hsa-miR-4704-3p	CLIP-seq
MIRT1015301	hsa-miR-4714-5p	CLIP-seq
MIRT1015302	hsa-miR-4715-3p	CLIP-seq
MIRT1015303	hsa-miR-4727-5p	CLIP-seq
MIRT1015304	hsa-miR-4738-3p	CLIP-seq
MIRT1015305	hsa-miR-4753-3p	CLIP-seq
MIRT1015306	hsa-miR-4761-5p	CLIP-seq
MIRT1015307	hsa-miR-4762-3p	CLIP-seq
MIRT1015308	hsa-miR-4774-3p	CLIP-seq
MIRT1015309	hsa-miR-4775	CLIP-seq
MIRT1015310	hsa-miR-495	CLIP-seq
MIRT1015311	hsa-miR-499-5p	CLIP-seq
MIRT1015312	hsa-miR-516b	CLIP-seq
MIRT1015313	hsa-miR-520g	CLIP-seq
MIRT1015314	hsa-miR-520h	CLIP-seq
MIRT1015315	hsa-miR-544	CLIP-seq
MIRT1015316	hsa-miR-548l	CLIP-seq
MIRT1015317	hsa-miR-548u	CLIP-seq
MIRT1015318	hsa-miR-556-5p	CLIP-seq
MIRT1015319	hsa-miR-558	CLIP-seq
MIRT1015320	hsa-miR-576-3p	CLIP-seq
MIRT1015321	hsa-miR-576-5p	CLIP-seq
MIRT1015322	hsa-miR-590-3p	CLIP-seq
MIRT1015323	hsa-miR-617	CLIP-seq
MIRT1015324	hsa-miR-655	CLIP-seq
MIRT1015325	hsa-miR-661	CLIP-seq
MIRT1015326	hsa-miR-888	CLIP-seq
MIRT1015327	hsa-miR-889	CLIP-seq
MIRT1015328	hsa-miR-938	CLIP-seq
MIRT1015329	hsa-miR-940	CLIP-seq
MIRT1015330	hsa-miR-942	CLIP-seq
MIRT1015331	hsa-miR-98	CLIP-seq
MIRT1015251	hsa-miR-208a	CLIP-seq
MIRT1015252	hsa-miR-208b	CLIP-seq
MIRT1015311	hsa-miR-499-5p	CLIP-seq
MIRT2234126	hsa-miR-1322	CLIP-seq
MIRT2234127	hsa-miR-302a	CLIP-seq
MIRT2234128	hsa-miR-302b	CLIP-seq
MIRT2234129	hsa-miR-302c	CLIP-seq
MIRT2234130	hsa-miR-302d	CLIP-seq
MIRT2234131	hsa-miR-302e	CLIP-seq
MIRT1015270	hsa-miR-3545-3p	CLIP-seq
MIRT2234132	hsa-miR-3619-3p	CLIP-seq
MIRT2234133	hsa-miR-3671	CLIP-seq
MIRT2234134	hsa-miR-372	CLIP-seq
MIRT2234135	hsa-miR-373	CLIP-seq
MIRT2234136	hsa-miR-425	CLIP-seq
MIRT1015284	hsa-miR-4275	CLIP-seq
MIRT1015288	hsa-miR-4432	CLIP-seq
MIRT2234137	hsa-miR-4480	CLIP-seq
MIRT2234138	hsa-miR-4639-5p	CLIP-seq
MIRT2234139	hsa-miR-4754	CLIP-seq
MIRT2234140	hsa-miR-4760-3p	CLIP-seq
MIRT1015311	hsa-miR-499-5p	CLIP-seq
MIRT2234141	hsa-miR-520a-3p	CLIP-seq
MIRT2234142	hsa-miR-520b	CLIP-seq
MIRT2234143	hsa-miR-520c-3p	CLIP-seq
MIRT2234144	hsa-miR-520d-3p	CLIP-seq
MIRT2234145	hsa-miR-520e	CLIP-seq
MIRT2234146	hsa-miR-549	CLIP-seq
MIRT2234147	hsa-miR-603	CLIP-seq
MIRT2234148	hsa-miR-607	CLIP-seq
MIRT1015234	hsa-miR-1237	CLIP-seq
MIRT1015235	hsa-miR-1245b-3p	CLIP-seq
MIRT1015236	hsa-miR-1248	CLIP-seq
MIRT2537986	hsa-miR-1264	CLIP-seq
MIRT2537987	hsa-miR-1284	CLIP-seq
MIRT2537988	hsa-miR-1298	CLIP-seq
MIRT2537989	hsa-miR-137	CLIP-seq
MIRT1015250	hsa-miR-203	CLIP-seq
MIRT2537990	hsa-miR-2113	CLIP-seq
MIRT2537991	hsa-miR-23a	CLIP-seq
MIRT2537992	hsa-miR-23b	CLIP-seq
MIRT2537993	hsa-miR-23c	CLIP-seq
MIRT2234127	hsa-miR-302a	CLIP-seq
MIRT2234128	hsa-miR-302b	CLIP-seq
MIRT2234129	hsa-miR-302c	CLIP-seq
MIRT2234130	hsa-miR-302d	CLIP-seq
MIRT2234131	hsa-miR-302e	CLIP-seq
MIRT1015265	hsa-miR-3152-5p	CLIP-seq
MIRT2537994	hsa-miR-3156-5p	CLIP-seq
MIRT1015269	hsa-miR-34c-3p	CLIP-seq
MIRT2537995	hsa-miR-3612	CLIP-seq
MIRT2537996	hsa-miR-3614-5p	CLIP-seq
MIRT2234132	hsa-miR-3619-3p	CLIP-seq
MIRT1015271	hsa-miR-3663-3p	CLIP-seq
MIRT2234133	hsa-miR-3671	CLIP-seq
MIRT1015273	hsa-miR-3675-3p	CLIP-seq
MIRT1015274	hsa-miR-3682-3p	CLIP-seq
MIRT2537997	hsa-miR-3684	CLIP-seq
MIRT2234134	hsa-miR-372	CLIP-seq
MIRT2234135	hsa-miR-373	CLIP-seq
MIRT2537998	hsa-miR-378	CLIP-seq
MIRT2537999	hsa-miR-378b	CLIP-seq
MIRT2538000	hsa-miR-378c	CLIP-seq
MIRT2538001	hsa-miR-378d	CLIP-seq
MIRT2538002	hsa-miR-378e	CLIP-seq
MIRT2538003	hsa-miR-378f	CLIP-seq
MIRT2538004	hsa-miR-378h	CLIP-seq
MIRT2538005	hsa-miR-378i	CLIP-seq
MIRT2538006	hsa-miR-3914	CLIP-seq
MIRT1015279	hsa-miR-3942-3p	CLIP-seq
MIRT2538007	hsa-miR-422a	CLIP-seq
MIRT1015283	hsa-miR-4263	CLIP-seq
MIRT1015286	hsa-miR-4303	CLIP-seq
MIRT1015288	hsa-miR-4432	CLIP-seq
MIRT2538008	hsa-miR-4443	CLIP-seq
MIRT2234137	hsa-miR-4480	CLIP-seq
MIRT2538009	hsa-miR-4502	CLIP-seq
MIRT1015296	hsa-miR-4514	CLIP-seq
MIRT2538010	hsa-miR-4638-3p	CLIP-seq
MIRT2234138	hsa-miR-4639-5p	CLIP-seq
MIRT2538011	hsa-miR-4684-3p	CLIP-seq
MIRT1015298	hsa-miR-4692	CLIP-seq
MIRT2538012	hsa-miR-4699-5p	CLIP-seq
MIRT1015305	hsa-miR-4753-3p	CLIP-seq
MIRT2234139	hsa-miR-4754	CLIP-seq
MIRT2234140	hsa-miR-4760-3p	CLIP-seq
MIRT1015307	hsa-miR-4762-3p	CLIP-seq
MIRT2538013	hsa-miR-4766-5p	CLIP-seq
MIRT2538014	hsa-miR-4768-5p	CLIP-seq
MIRT1015308	hsa-miR-4774-3p	CLIP-seq
MIRT1015311	hsa-miR-499-5p	CLIP-seq
MIRT2538015	hsa-miR-499a-5p	CLIP-seq
MIRT2234141	hsa-miR-520a-3p	CLIP-seq
MIRT2234142	hsa-miR-520b	CLIP-seq
MIRT2234143	hsa-miR-520c-3p	CLIP-seq
MIRT2234144	hsa-miR-520d-3p	CLIP-seq
MIRT2234145	hsa-miR-520e	CLIP-seq
MIRT2538016	hsa-miR-522	CLIP-seq
MIRT1015317	hsa-miR-548u	CLIP-seq
MIRT1015321	hsa-miR-576-5p	CLIP-seq
MIRT2538017	hsa-miR-599	CLIP-seq
MIRT2234148	hsa-miR-607	CLIP-seq
MIRT2538018	hsa-miR-650	CLIP-seq
MIRT2538019	hsa-miR-653	CLIP-seq
MIRT2538020	hsa-miR-767-5p	CLIP-seq
MIRT2538021	hsa-miR-885-5p	CLIP-seq
MIRT1015327	hsa-miR-889	CLIP-seq
MIRT1015328	hsa-miR-938	CLIP-seq
MIRT1015330	hsa-miR-942	CLIP-seq
MIRT2681472	hsa-miR-1182	CLIP-seq
MIRT1015234	hsa-miR-1237	CLIP-seq
MIRT1015235	hsa-miR-1245b-3p	CLIP-seq
MIRT1015236	hsa-miR-1248	CLIP-seq
MIRT2537986	hsa-miR-1264	CLIP-seq
MIRT2537987	hsa-miR-1284	CLIP-seq
MIRT2537988	hsa-miR-1298	CLIP-seq
MIRT2537989	hsa-miR-137	CLIP-seq
MIRT1015250	hsa-miR-203	CLIP-seq
MIRT2537991	hsa-miR-23a	CLIP-seq
MIRT2537992	hsa-miR-23b	CLIP-seq
MIRT2537993	hsa-miR-23c	CLIP-seq
MIRT2234127	hsa-miR-302a	CLIP-seq
MIRT2234128	hsa-miR-302b	CLIP-seq
MIRT2234129	hsa-miR-302c	CLIP-seq
MIRT2234130	hsa-miR-302d	CLIP-seq
MIRT2234131	hsa-miR-302e	CLIP-seq
MIRT1015265	hsa-miR-3152-5p	CLIP-seq
MIRT2537994	hsa-miR-3156-5p	CLIP-seq
MIRT2537995	hsa-miR-3612	CLIP-seq
MIRT2537996	hsa-miR-3614-5p	CLIP-seq
MIRT2234132	hsa-miR-3619-3p	CLIP-seq
MIRT1015271	hsa-miR-3663-3p	CLIP-seq
MIRT2234133	hsa-miR-3671	CLIP-seq
MIRT1015273	hsa-miR-3675-3p	CLIP-seq
MIRT1015274	hsa-miR-3682-3p	CLIP-seq
MIRT2537997	hsa-miR-3684	CLIP-seq
MIRT2234134	hsa-miR-372	CLIP-seq
MIRT2234135	hsa-miR-373	CLIP-seq
MIRT2538006	hsa-miR-3914	CLIP-seq
MIRT2681473	hsa-miR-3919	CLIP-seq
MIRT1015281	hsa-miR-4252	CLIP-seq
MIRT1015283	hsa-miR-4263	CLIP-seq
MIRT1015286	hsa-miR-4303	CLIP-seq
MIRT1015288	hsa-miR-4432	CLIP-seq
MIRT2538008	hsa-miR-4443	CLIP-seq
MIRT2234137	hsa-miR-4480	CLIP-seq
MIRT2538009	hsa-miR-4502	CLIP-seq
MIRT1015296	hsa-miR-4514	CLIP-seq
MIRT2234138	hsa-miR-4639-5p	CLIP-seq
MIRT1015298	hsa-miR-4692	CLIP-seq
MIRT2681474	hsa-miR-4705	CLIP-seq
MIRT1015305	hsa-miR-4753-3p	CLIP-seq
MIRT2234139	hsa-miR-4754	CLIP-seq
MIRT2681475	hsa-miR-4756-3p	CLIP-seq
MIRT2234140	hsa-miR-4760-3p	CLIP-seq
MIRT1015307	hsa-miR-4762-3p	CLIP-seq
MIRT2538013	hsa-miR-4766-5p	CLIP-seq
MIRT2538014	hsa-miR-4768-5p	CLIP-seq
MIRT1015308	hsa-miR-4774-3p	CLIP-seq
MIRT1015311	hsa-miR-499-5p	CLIP-seq
MIRT2538015	hsa-miR-499a-5p	CLIP-seq
MIRT2681476	hsa-miR-513a-5p	CLIP-seq
MIRT2234141	hsa-miR-520a-3p	CLIP-seq
MIRT2234142	hsa-miR-520b	CLIP-seq
MIRT2234143	hsa-miR-520c-3p	CLIP-seq
MIRT2234144	hsa-miR-520d-3p	CLIP-seq
MIRT2234145	hsa-miR-520e	CLIP-seq
MIRT1015317	hsa-miR-548u	CLIP-seq
MIRT1015321	hsa-miR-576-5p	CLIP-seq
MIRT2234148	hsa-miR-607	CLIP-seq
MIRT2538018	hsa-miR-650	CLIP-seq
MIRT2538019	hsa-miR-653	CLIP-seq
MIRT2538020	hsa-miR-767-5p	CLIP-seq
MIRT2538021	hsa-miR-885-5p	CLIP-seq
MIRT1015330	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
YY1	Activation	19720140

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000266	Process	Mitochondrial fission	IBA
GO:0000266	Process	Mitochondrial fission	IDA	15772096
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	15772096
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006626	Process	Protein targeting to mitochondrion	IBA
GO:0006626	Process	Protein targeting to mitochondrion	IMP	15772096
GO:0008053	Process	Mitochondrial fusion	IBA
GO:0008053	Process	Mitochondrial fusion	IMP	21753178
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0071305	Process	Cellular response to vitamin D	IEA

Other IDs

• MIM: 606598
• HGNC: 15968
• e!Ensembl: ENSG00000104381

Protein

• UniProt ID: Q8TB36
• Protein name: Ganglioside-induced differentiation-associated protein 1 (GDAP1)
• Protein function: Regulates the mitochondrial network by promoting mitochondrial fission.
• PDB: 7AIA, 7ALM, 7B2G, 7Q6J, 7Q6K, 7YWD, 8A4J, 8A4K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13417	GST_N_3	28 → 105	Glutathione S-transferase, N-terminal domain	Domain
  PF13410	GST_C_2	163 → 282		Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells. {ECO:0000269|PubMed:11743580, ECO:0000269|PubMed:16172208}.
• Sequence:

  MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPL
  SEHNEPWFMRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPR
  VQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPD
  LQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC
  GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNIL
  ISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF

• Sequence length: 358

Pathways

Reactome:

Class I peroxisomal membrane protein import

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
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs104894077, rs104894078, rs104894079, rs104894080, rs121908114, rs864622501, rs770501034, rs886041386, rs538412810, rs1060500979, rs1060500978, rs1323153568, rs281865060, rs1554547986, rs375431837, rs761035569, rs397515442, rs1476856429, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1370011538, rs1808869772	RCV000857207 RCV000192249 RCV001533514 RCV000789780 RCV000857208 RCV000789161 RCV000789164 RCV000789712 RCV000789054 RCV000789792 RCV000789157 RCV000789782 RCV000789791 RCV000790267 RCV000789687 RCV001173312 RCV000857206 RCV000789787 RCV000789711 RCV000789781 RCV000789162 RCV000789153 RCV000789158 RCV000789676 RCV000789167 RCV000789168 RCV000789640 RCV001173313	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease axonal type 2K	Pathogenic; Likely pathogenic	rs1085307665, rs2536749948, rs104894075, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs1474390668, rs2536722528, rs745663149, rs864622501, rs886041386, rs1359367948, rs538412810, rs1060500979, rs1323153568, rs281865060, rs397515432, rs761035569, rs1183978180, rs397515441, rs397515442, rs1476856429, rs778547659, rs1586795216, rs1586803063, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1370011538, rs1586807529, rs1808858148	RCV003447323 RCV002289293 RCV000004411 RCV000763605 RCV002504741 RCV000004418 RCV000004419 RCV000033147 RCV000004422 RCV005047425 RCV005409893 RCV000661961 RCV002288831 RCV005044521 RCV003990510 RCV002506106 RCV003447136 RCV003447143 RCV003447095 RCV003447102 RCV005409719 RCV005046950 RCV000043548 RCV000043549 RCV002485966 RCV003447240 RCV003447261 RCV003447194 RCV003447191 RCV003447234 RCV003447198 RCV003447199 RCV003447230 RCV000985190 RCV001250993	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease recessive intermediate A	Pathogenic; Likely pathogenic	rs104894075, rs104894077, rs28937906, rs104894078, rs104894080, rs121908114, rs1474390668, rs2536722528, rs745663149, rs864622501, rs1809500885, rs770501034, rs886041386, rs538412810, rs1060500978, rs281865060, rs397515432, rs761035569, rs1183978180, rs1476856429, rs1586803063, rs1370011538	RCV002496253 RCV000763605 RCV000004415 RCV001535613 RCV000004420 RCV005041980 RCV005047425 RCV005409893 RCV000661962 RCV001839450 RCV003153084 RCV000664207 RCV005044521 RCV002506106 RCV001809345 RCV005042100 RCV000033148 RCV005409719 RCV005046950 RCV002485966 RCV000004416 RCV005047050	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Likely pathogenic; Pathogenic	rs761035569	RCV000857203	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4A	Likely pathogenic; Pathogenic	rs1808804404, rs1586794015, rs1243845978, rs751986220, rs2131512540, rs1085307665, rs2131512957, rs1241632021, rs2131493453, rs538389475, rs2131493519, rs779894269, rs1169652308, rs773136934, rs2536749929, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs1474390668, rs2536744805, rs2536722528, rs2536750938, rs745663149, rs2536741205, rs2536745244, rs864622501, rs770501034, rs886041386, rs2536724594, rs2536725063, rs2536724780, rs2536741344, rs2536724673, rs2536745258, rs538412810, rs1060500979, rs1060500978, rs1323153568, rs1554548334, rs1221804567, rs556827873, rs281865060, rs397515432, rs1554547986, rs375431837, rs761035569, rs1183978180, rs397515441, rs397515442, rs1476856429, rs778547659, rs1586795216, rs1586803273, rs1443963090, rs1586804849, rs1586807387, rs1370011538, rs1174933176, rs1586803187, rs1417699318, rs936681187, rs1808872865, rs1808867656, rs1809447471	RCV001378845 RCV001390517 RCV001383619 RCV001381579 RCV001381035 RCV001385685 RCV002038765 RCV001999774 RCV001970100 RCV001949385 RCV001949602 RCV001930237 RCV001917097 RCV002010064 RCV002610213 RCV000004410 RCV000004412 RCV000204463 RCV001235354 RCV000200521 RCV000798174 RCV000034153 RCV000703370 RCV003105618 RCV002824449 RCV002824634 RCV002876408 RCV000201184 RCV003020412 RCV003022877 RCV000204949 RCV001206561 RCV005044521 RCV003331862 RCV003340869 RCV003504383 RCV003504212 RCV003612503 RCV003612714 RCV000471926 RCV000466389 RCV000456890 RCV001383587 RCV000542442 RCV000559806 RCV000527122 RCV000031962 RCV001055971 RCV000643966 RCV000697077 RCV000690220 RCV000696394 RCV002513634 RCV000696667 RCV000820420 RCV000814937 RCV001353152 RCV003447187 RCV002536912 RCV003330953 RCV002536913 RCV001390388 RCV000820275 RCV000824527 RCV000818644 RCV000988073 RCV001206055 RCV001237827 RCV001236810	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	Pathogenic; Likely pathogenic	rs104894075, rs104894077, rs28937906, rs104894078, rs104894080, rs121908114, rs1474390668, rs2536722528, rs745663149, rs886041386, rs538412810, rs281865060, rs397515432, rs761035569, rs1183978180, rs1476856429, rs770658701, rs1370011538	RCV000023562 RCV000031963 RCV002504741 RCV001535613 RCV002496254 RCV005041980 RCV005047425 RCV005409893 RCV002478714 RCV005044521 RCV002506106 RCV005042100 RCV003152669 RCV005409719 RCV005046950 RCV002485966 RCV002290038 RCV005047050	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elevated circulating alkaline phosphatase concentration	Likely pathogenic; Pathogenic	rs104894080	RCV000414821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elevated circulating creatine kinase concentration	Likely pathogenic; Pathogenic	rs104894080	RCV000414821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GDAP1-related disorder	Likely pathogenic; Pathogenic	rs104894080, rs375431837, rs1370011538	RCV000779562 RCV004535737 RCV004527815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuropathy, axonal, with vocal cord paresis, autosomal recessive	Pathogenic	rs104894077, rs1586807410	RCV000004413 RCV000004414	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral axonal neuropathy	Likely pathogenic; Pathogenic	rs104894080	RCV000414821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs746609932, rs538412810, rs765346218	RCV001814561 RCV001836822 RCV001836931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyneuropathy	Likely pathogenic; Pathogenic	rs104894080	RCV000414821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory neuropathy	Likely pathogenic; Pathogenic	rs104894080	RCV000414821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant Charcot-Marie-Tooth disease type 2K	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 2H	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2K	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth with Vocal Cord Paresis	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth, Intermediate	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL PES CAVUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pes cavus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tip-toe gait	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ 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
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	34470922	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	18504680	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2K	Charcot-Marie-Tooth Disease	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	Charcot-Marie-Tooth Disease With Hoarseness	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	15377708, 22200116	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10848494, 11743580, 12030326, 12499475, 12566285, 12707075, 12821518, 14561495, 14595091, 15377708, 15772096, 15892292, 15944907, 16172208, 16343542, 16857173, 17433678, 17470135, 18021315, 18231710, 18492089, 18504680, 18698610, 18812441, 18991200, 19089472, 19381883, 19922348, 20232219, 20685671, 20849849, 21199105, 21212451, 21365284, 21692914, 21753178, 21890626, 21965300, 22200116, 22546700, 23456260, 23466821, 23628762, 23781959, 24027061, 25122658, 25168384, 25337607, 25403865, 25429913, 25454638, 25847151, 26362287, 26525999, 28065847, 28220846, 28236508, 28244113, 28395795, 28495047, 28673555, 28751717, 29372391, 29396836, 29694336, 30039846, 30669311, 31271761, 31680794, 8268915, 9109869		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	12499475, 12868504, 18231710, 18421898, 18492089		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	25614874		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2H	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	BEFREE	14561495		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4A	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	11743579, 2937239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	Charcot-Marie-Tooth Disease	UNIPROT_DG	15772096, 20685671, 22206013, 26525999, 28244113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	Charcot-Marie-Tooth Disease	BEFREE	19089472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	11743579, 2937239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Charcot-Marie-Tooth Disease	ORPHANET_DG	12499475, 12566285		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Charcot-Marie-Tooth Disease	UNIPROT_DG	12499475, 12566285, 15772096, 16172208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)	Charcot-Marie-Tooth disease	BEFREE	11743579, 12601710, 14595091, 15377708, 15772096, 16343542, 19089472		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)	Charcot-Marie-Tooth disease	CLINVAR_DG	11743579, 11743580, 12566285, 12601710, 14561495, 15192818, 15377708, 15805163, 17433678, 18021315, 18421898, 18504680, 19500985, 19782751, 20685671, 20849849, 21199105, 21212451, 21692914, 21753178, 21840889, 21890626, 21965300, 22206013, 22971097, 23456260, 23466821, 23628762, 23963299, 25429913, 26392352, 26525999, 28220846, 28495047, 28751717, 29372391		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	11743579, 2937239		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)	Charcot-Marie-Tooth disease	UNIPROT_DG	11743579, 12601710, 15772096, 16172208		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 4A, axonal form	Charcot-Marie-Tooth disease	UNIPROT_DG	12868504, 16172208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4A, axonal form	Charcot-Marie-Tooth disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4A, axonal form	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4A, axonal form	Charcot-Marie-Tooth disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	18504680, 22200116, 36912213, 37058526	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphonia	Dysphonia	Pubtator	28751717	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	10848494, 17470135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)	Hereditary motor and sensory neuropathy	BEFREE	21365284		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	22971097		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	Pubtator	18504680	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	34057104	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	10412516		★☆☆☆☆ Found in Text Mining only
Inherited Peripheral Neuropathy	Inherited Peripheral Neuropathy	BEFREE	22200116, 23628762		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36708053	Associate	★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	BEFREE	19089472		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	22200116		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22200116, 28220846, 32274853	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31179332	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15772096, 28220846		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28220846	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20849849		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	11743580, 12402282, 12566285, 15377708, 15772096, 18812441, 19381883, 21212451, 21753178, 22546700, 23456260, 24027061, 25122658, 29372391, 29396836, 31271761, 31680794, 8268915		★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	BEFREE	11743580, 14561495, 18812441		★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	12402282, 29396836, 30653784, 31760652		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	18021315, 20849849, 21965300		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	34057104, 37778197	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	18021315		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyneuropathies	Polyneuropathy	Pubtator	15377708	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	21402391, 23456260		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyneuropathy	Polyneuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22491018		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22491018		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	12566285, 18991200		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	16172208		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensory neuropathy	Sensory neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	18698610		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	32274853	Associate	★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	30677530		★☆☆☆☆ Found in Text Mining only
Tooth Diseases	Tooth Diseases	BEFREE	15019704		★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	BEFREE	12499475, 12821518, 17347251		★☆☆☆☆ Found in Text Mining only