VLDLR (very low density lipoprotein receptor)

Gene

• Entrez ID: 7436
• Gene name: Very low density lipoprotein receptor
• Gene symbol: VLDLR
• Synonyms (NCBI Gene): CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH
• Chromosome: 9
• Chromosome location: 9p24.2
• Summary: The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338905	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs80338906	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs80338907	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs116306908	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs139671268	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs140526335	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs141850403	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant
rs397514750	G>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398122380	TACAAGT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs745973997	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs755328835	A>G	Likely-pathogenic	Splice acceptor variant
rs770269674	G>A	Pathogenic	Splice acceptor variant
rs1554621211	GAGTG>-	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, stop gained
rs1563764078	T>C	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018291	hsa-miR-335-5p	Microarray	18185580
MIRT020261	hsa-miR-130b-3p	Sequencing	20371350
MIRT028137	hsa-miR-93-5p	Sequencing	20371350
MIRT054784	hsa-miR-135a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24903309
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT721847	hsa-miR-4280	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT721846	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT644815	hsa-miR-4686	HITS-CLIP	23824327
MIRT644816	hsa-miR-6072	HITS-CLIP	23824327
MIRT644814	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644813	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT644812	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT644811	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT644810	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT644809	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT644808	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT644807	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT644806	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT636145	hsa-miR-664a-3p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT107568	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT533233	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT546056	hsa-miR-4433a-5p	PAR-CLIP	21572407
MIRT107578	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT107574	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT107575	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT107580	hsa-miR-4433b-5p	PAR-CLIP	21572407
MIRT107572	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT107576	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT107573	hsa-miR-4646-3p	PAR-CLIP	21572407
MIRT107571	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT124632	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT533234	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533233	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT533232	hsa-miR-5680	PAR-CLIP	22012620
MIRT533231	hsa-miR-3973	PAR-CLIP	22012620
MIRT107536	hsa-miR-520g-3p	PAR-CLIP	22012620
MIRT107537	hsa-miR-520h	PAR-CLIP	22012620
MIRT533230	hsa-miR-607	PAR-CLIP	22012620
MIRT533229	hsa-miR-1305	PAR-CLIP	22012620
MIRT443136	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT443135	hsa-miR-548ab	PAR-CLIP	22100165
MIRT443134	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT443133	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT443132	hsa-miR-548ak	PAR-CLIP	22100165
MIRT443131	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT443130	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT443129	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT443128	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT443127	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT443126	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT443125	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT443124	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT443123	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT443122	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT443121	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT443120	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT443119	hsa-miR-548i	PAR-CLIP	22100165
MIRT443118	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT443117	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT443116	hsa-miR-548w	PAR-CLIP	22100165
MIRT443115	hsa-miR-548y	PAR-CLIP	22100165
MIRT443114	hsa-miR-559	PAR-CLIP	22100165
MIRT443113	hsa-miR-5197-5p	PAR-CLIP	22100165
MIRT443112	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443111	hsa-miR-3926	PAR-CLIP	22100165
MIRT443110	hsa-miR-548s	PAR-CLIP	22100165
MIRT439303	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT439302	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT439303	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT439302	hsa-miR-409-5p	HITS-CLIP	24374217
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618560	hsa-miR-4312	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	27418678
MIRT618559	hsa-miR-630	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT618561	hsa-miR-643	HITS-CLIP	27418678
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT721847	hsa-miR-4280	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT721846	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT713315	hsa-miR-100-3p	HITS-CLIP	19536157
MIRT244826	hsa-miR-1279	HITS-CLIP	19536157
MIRT713314	hsa-miR-3161	HITS-CLIP	19536157
MIRT713313	hsa-miR-2681-5p	HITS-CLIP	19536157
MIRT644815	hsa-miR-4686	HITS-CLIP	23824327
MIRT644816	hsa-miR-6072	HITS-CLIP	23824327
MIRT644814	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT644813	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT644812	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT644811	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT644810	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT644809	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT644808	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT644807	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT644806	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT636145	hsa-miR-664a-3p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT630936	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT618561	hsa-miR-643	HITS-CLIP	23824327
MIRT618560	hsa-miR-4312	HITS-CLIP	23824327
MIRT618559	hsa-miR-630	HITS-CLIP	23824327
MIRT618558	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT618557	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT107568	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT533233	hsa-miR-338-5p	PAR-CLIP	21572407
MIRT546056	hsa-miR-4433a-5p	PAR-CLIP	21572407
MIRT107578	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT107574	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT107575	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT107580	hsa-miR-4433b-5p	PAR-CLIP	21572407
MIRT107572	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT107576	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT107573	hsa-miR-4646-3p	PAR-CLIP	21572407
MIRT107571	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT124632	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT533234	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533233	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT533232	hsa-miR-5680	PAR-CLIP	22012620
MIRT533231	hsa-miR-3973	PAR-CLIP	22012620
MIRT107536	hsa-miR-520g-3p	PAR-CLIP	22012620
MIRT107537	hsa-miR-520h	PAR-CLIP	22012620
MIRT533230	hsa-miR-607	PAR-CLIP	22012620
MIRT533229	hsa-miR-1305	PAR-CLIP	22012620
MIRT443136	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT443135	hsa-miR-548ab	PAR-CLIP	22100165
MIRT443134	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT443133	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT443132	hsa-miR-548ak	PAR-CLIP	22100165
MIRT443131	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT443130	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT443129	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT443128	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT443127	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT443126	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT443125	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT443124	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT443123	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT443122	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT443121	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT443120	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT443119	hsa-miR-548i	PAR-CLIP	22100165
MIRT443118	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT443117	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT443116	hsa-miR-548w	PAR-CLIP	22100165
MIRT443115	hsa-miR-548y	PAR-CLIP	22100165
MIRT443114	hsa-miR-559	PAR-CLIP	22100165
MIRT443113	hsa-miR-5197-5p	PAR-CLIP	22100165
MIRT443112	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443111	hsa-miR-3926	PAR-CLIP	22100165
MIRT443110	hsa-miR-548s	PAR-CLIP	22100165
MIRT755425	hsa-miR-423-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36352275
MIRT1485221	hsa-miR-106a	CLIP-seq
MIRT1485222	hsa-miR-106b	CLIP-seq
MIRT1485223	hsa-miR-1287	CLIP-seq
MIRT1485224	hsa-miR-135a	CLIP-seq
MIRT1485225	hsa-miR-135b	CLIP-seq
MIRT1485226	hsa-miR-17	CLIP-seq
MIRT1485227	hsa-miR-20a	CLIP-seq
MIRT1485228	hsa-miR-20b	CLIP-seq
MIRT1485229	hsa-miR-2117	CLIP-seq
MIRT1485230	hsa-miR-3119	CLIP-seq
MIRT1485231	hsa-miR-3135b	CLIP-seq
MIRT1485232	hsa-miR-3145-3p	CLIP-seq
MIRT1485233	hsa-miR-3153	CLIP-seq
MIRT1485234	hsa-miR-3160-5p	CLIP-seq
MIRT1485235	hsa-miR-3187-3p	CLIP-seq
MIRT1485236	hsa-miR-3192	CLIP-seq
MIRT1485237	hsa-miR-320a	CLIP-seq
MIRT1485238	hsa-miR-320b	CLIP-seq
MIRT1485239	hsa-miR-320c	CLIP-seq
MIRT1485240	hsa-miR-320d	CLIP-seq
MIRT1485241	hsa-miR-326	CLIP-seq
MIRT1485242	hsa-miR-330-5p	CLIP-seq
MIRT1485243	hsa-miR-4257	CLIP-seq
MIRT1485244	hsa-miR-4273	CLIP-seq
MIRT1485245	hsa-miR-4314	CLIP-seq
MIRT1485246	hsa-miR-4420	CLIP-seq
MIRT1485247	hsa-miR-4429	CLIP-seq
MIRT1485248	hsa-miR-4435	CLIP-seq
MIRT1485249	hsa-miR-448	CLIP-seq
MIRT1485250	hsa-miR-4646-5p	CLIP-seq
MIRT1485251	hsa-miR-4677-5p	CLIP-seq
MIRT1485252	hsa-miR-4699-3p	CLIP-seq
MIRT1485253	hsa-miR-4701-5p	CLIP-seq
MIRT1485254	hsa-miR-519a	CLIP-seq
MIRT1485255	hsa-miR-519b-3p	CLIP-seq
MIRT1485256	hsa-miR-519c-3p	CLIP-seq
MIRT1485257	hsa-miR-519d	CLIP-seq
MIRT1485258	hsa-miR-588	CLIP-seq
MIRT1485259	hsa-miR-676	CLIP-seq
MIRT1485260	hsa-miR-802	CLIP-seq
MIRT1485261	hsa-miR-93	CLIP-seq
MIRT1485262	hsa-miR-101	CLIP-seq
MIRT1485221	hsa-miR-106a	CLIP-seq
MIRT1485222	hsa-miR-106b	CLIP-seq
MIRT1485263	hsa-miR-1244	CLIP-seq
MIRT1485264	hsa-miR-1271	CLIP-seq
MIRT1485265	hsa-miR-1284	CLIP-seq
MIRT1485223	hsa-miR-1287	CLIP-seq
MIRT1485224	hsa-miR-135a	CLIP-seq
MIRT1485225	hsa-miR-135b	CLIP-seq
MIRT1485266	hsa-miR-144	CLIP-seq
MIRT1485226	hsa-miR-17	CLIP-seq
MIRT1485267	hsa-miR-182	CLIP-seq
MIRT1485268	hsa-miR-199a-3p	CLIP-seq
MIRT1485269	hsa-miR-199b-3p	CLIP-seq
MIRT1485270	hsa-miR-200b	CLIP-seq
MIRT1485271	hsa-miR-200c	CLIP-seq
MIRT1485227	hsa-miR-20a	CLIP-seq
MIRT1485228	hsa-miR-20b	CLIP-seq
MIRT1485229	hsa-miR-2117	CLIP-seq
MIRT1485272	hsa-miR-297	CLIP-seq
MIRT1485273	hsa-miR-300	CLIP-seq
MIRT1485230	hsa-miR-3119	CLIP-seq
MIRT1485274	hsa-miR-3129-5p	CLIP-seq
MIRT1485231	hsa-miR-3135b	CLIP-seq
MIRT1485232	hsa-miR-3145-3p	CLIP-seq
MIRT1485233	hsa-miR-3153	CLIP-seq
MIRT1485234	hsa-miR-3160-5p	CLIP-seq
MIRT1485235	hsa-miR-3187-3p	CLIP-seq
MIRT1485236	hsa-miR-3192	CLIP-seq
MIRT1485241	hsa-miR-326	CLIP-seq
MIRT1485242	hsa-miR-330-5p	CLIP-seq
MIRT1485275	hsa-miR-3688-5p	CLIP-seq
MIRT1485276	hsa-miR-381	CLIP-seq
MIRT1485243	hsa-miR-4257	CLIP-seq
MIRT1485244	hsa-miR-4273	CLIP-seq
MIRT1485277	hsa-miR-429	CLIP-seq
MIRT1485245	hsa-miR-4314	CLIP-seq
MIRT1485246	hsa-miR-4420	CLIP-seq
MIRT1485248	hsa-miR-4435	CLIP-seq
MIRT1485249	hsa-miR-448	CLIP-seq
MIRT1485250	hsa-miR-4646-5p	CLIP-seq
MIRT1485278	hsa-miR-4666-3p	CLIP-seq
MIRT1485251	hsa-miR-4677-5p	CLIP-seq
MIRT1485252	hsa-miR-4699-3p	CLIP-seq
MIRT1485253	hsa-miR-4701-5p	CLIP-seq
MIRT1485279	hsa-miR-4704-5p	CLIP-seq
MIRT1485280	hsa-miR-4789-5p	CLIP-seq
MIRT1485254	hsa-miR-519a	CLIP-seq
MIRT1485255	hsa-miR-519b-3p	CLIP-seq
MIRT1485256	hsa-miR-519c-3p	CLIP-seq
MIRT1485257	hsa-miR-519d	CLIP-seq
MIRT1485281	hsa-miR-552	CLIP-seq
MIRT1485282	hsa-miR-567	CLIP-seq
MIRT1485258	hsa-miR-588	CLIP-seq
MIRT1485259	hsa-miR-676	CLIP-seq
MIRT1485260	hsa-miR-802	CLIP-seq
MIRT1485261	hsa-miR-93	CLIP-seq
MIRT1485283	hsa-miR-96	CLIP-seq
MIRT2145957	hsa-miR-1245	CLIP-seq
MIRT1485259	hsa-miR-676	CLIP-seq
MIRT1485221	hsa-miR-106a	CLIP-seq
MIRT1485222	hsa-miR-106b	CLIP-seq
MIRT2366362	hsa-miR-1207-3p	CLIP-seq
MIRT2145957	hsa-miR-1245	CLIP-seq
MIRT1485264	hsa-miR-1271	CLIP-seq
MIRT1485265	hsa-miR-1284	CLIP-seq
MIRT2366363	hsa-miR-136	CLIP-seq
MIRT1485226	hsa-miR-17	CLIP-seq
MIRT1485267	hsa-miR-182	CLIP-seq
MIRT1485227	hsa-miR-20a	CLIP-seq
MIRT1485228	hsa-miR-20b	CLIP-seq
MIRT1485229	hsa-miR-2117	CLIP-seq
MIRT2366364	hsa-miR-219-5p	CLIP-seq
MIRT1485272	hsa-miR-297	CLIP-seq
MIRT1485273	hsa-miR-300	CLIP-seq
MIRT2366365	hsa-miR-302a	CLIP-seq
MIRT2366366	hsa-miR-302b	CLIP-seq
MIRT2366367	hsa-miR-302c	CLIP-seq
MIRT2366368	hsa-miR-302d	CLIP-seq
MIRT2366369	hsa-miR-302e	CLIP-seq
MIRT1485232	hsa-miR-3145-3p	CLIP-seq
MIRT1485236	hsa-miR-3192	CLIP-seq
MIRT1485241	hsa-miR-326	CLIP-seq
MIRT1485242	hsa-miR-330-5p	CLIP-seq
MIRT2366370	hsa-miR-3653	CLIP-seq
MIRT2366371	hsa-miR-3658	CLIP-seq
MIRT2366372	hsa-miR-372	CLIP-seq
MIRT2366373	hsa-miR-373	CLIP-seq
MIRT1485276	hsa-miR-381	CLIP-seq
MIRT2366374	hsa-miR-4264	CLIP-seq
MIRT1485244	hsa-miR-4273	CLIP-seq
MIRT2366375	hsa-miR-4311	CLIP-seq
MIRT1485245	hsa-miR-4314	CLIP-seq
MIRT2366376	hsa-miR-4445	CLIP-seq
MIRT2366377	hsa-miR-450b-5p	CLIP-seq
MIRT1485250	hsa-miR-4646-5p	CLIP-seq
MIRT1485278	hsa-miR-4666-3p	CLIP-seq
MIRT1485251	hsa-miR-4677-5p	CLIP-seq
MIRT1485252	hsa-miR-4699-3p	CLIP-seq
MIRT1485279	hsa-miR-4704-5p	CLIP-seq
MIRT2366378	hsa-miR-4720-3p	CLIP-seq
MIRT2366379	hsa-miR-4782-3p	CLIP-seq
MIRT1485280	hsa-miR-4789-5p	CLIP-seq
MIRT2366380	hsa-miR-4804-3p	CLIP-seq
MIRT2366381	hsa-miR-508-3p	CLIP-seq
MIRT2366382	hsa-miR-513a-3p	CLIP-seq
MIRT2366383	hsa-miR-518a-5p	CLIP-seq
MIRT1485257	hsa-miR-519d	CLIP-seq
MIRT2366384	hsa-miR-520a-3p	CLIP-seq
MIRT2366385	hsa-miR-520b	CLIP-seq
MIRT2366386	hsa-miR-520c-3p	CLIP-seq
MIRT2366387	hsa-miR-520d-3p	CLIP-seq
MIRT2366388	hsa-miR-520e	CLIP-seq
MIRT2366389	hsa-miR-520f	CLIP-seq
MIRT2366390	hsa-miR-520g	CLIP-seq
MIRT2366391	hsa-miR-527	CLIP-seq
MIRT1485281	hsa-miR-552	CLIP-seq
MIRT1485282	hsa-miR-567	CLIP-seq
MIRT2366392	hsa-miR-622	CLIP-seq
MIRT2366393	hsa-miR-640	CLIP-seq
MIRT1485261	hsa-miR-93	CLIP-seq
MIRT1485283	hsa-miR-96	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	10064725
HIC1	Repression	24076391
PPARG	Activation	19861583

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005041	Function	Low-density lipoprotein particle receptor activity	IEA
GO:0005041	Function	Low-density lipoprotein particle receptor activity	TAS	10380922
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	8083232, 10571240, 10571241, 17330141, 17548821, 20223215, 32296183, 33961781
GO:0005615	Component	Extracellular space	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10380922
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IDA	10571240
GO:0007165	Process	Signal transduction	TAS	10380922
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	10380922
GO:0007613	Process	Memory	TAS	7550352
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	IDA	15082773
GO:0016020	Component	Membrane	IEA
GO:0021517	Process	Ventral spinal cord development	IEA
GO:0030229	Function	Very-low-density lipoprotein particle receptor activity	IDA	8083232
GO:0030229	Function	Very-low-density lipoprotein particle receptor activity	IEA
GO:0030229	Function	Very-low-density lipoprotein particle receptor activity	TAS	20005821
GO:0034185	Function	Apolipoprotein binding	IBA
GO:0034185	Function	Apolipoprotein binding	IDA	10571240
GO:0034185	Function	Apolipoprotein binding	ISS
GO:0034189	Function	Very-low-density lipoprotein particle binding	IDA	10571240
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034436	Process	Glycoprotein transport	IDA	10571240
GO:0034447	Process	Very-low-density lipoprotein particle clearance	IDA	8083232
GO:0038024	Function	Cargo receptor activity	IDA	10571240
GO:0038025	Function	Reelin receptor activity	IEA
GO:0038025	Function	Reelin receptor activity	ISS
GO:0038026	Process	Reelin-mediated signaling pathway	IEA
GO:0038026	Process	Reelin-mediated signaling pathway	ISS
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045202	Component	Synapse	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	10571240
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1900006	Process	Positive regulation of dendrite development	IEA
GO:1900006	Process	Positive regulation of dendrite development	ISS

Other IDs

• MIM: 192977
• HGNC: 12698
• e!Ensembl: ENSG00000147852

Protein

• UniProt ID: P98155
• Protein name: Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)
• Protein function: Multifunctional cell surface receptor that binds VLDL and transports it into cells by endocytosis and therefore plays an important role in energy metabolism. Also binds to a wide range of other molecules including Reelin/RELN or apolipoprotein E
• PDB: 1V9U, 3DPR, 6BYV, 8IHP, 8UA4, 8UA8, 8UFB, 8UFC, 8X0K, 8X0L, 8X0M, 8XI4, 8XI5, 8YS2, 8YS4, 8YVZ, 8YW0, 8YW1, 8YW2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	31 → 67	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	70 → 108	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	111 → 149	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	152 → 188	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	191 → 229	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	237 → 273	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	276 → 312	Low-density lipoprotein receptor domain class A	Repeat
  PF00057	Ldl_recept_a	316 → 355	Low-density lipoprotein receptor domain class A	Repeat
  PF14670	FXa_inhibition	360 → 394		Domain
  PF07645	EGF_CA	396 → 434	Calcium-binding EGF domain	Domain
  PF00058	Ldl_recept_b	481 → 522	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	525 → 565	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	568 → 609	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	612 → 654	Low-density lipoprotein receptor repeat class B	Repeat
  PF00058	Ldl_recept_b	655 → 695	Low-density lipoprotein receptor repeat class B	Repeat
  PF14670	FXa_inhibition	706 → 749		Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.
• Sequence:

  MGTSALWALWLLLALCWAPRESGATGTGRKAKCEPSQFQCTNGRCITLLWKCDGDEDCVD
  GSDEKNCVKKTCAESDFVCNNGQCVPSRWKCDGDPDCEDGSDESPEQCHMRTCRIHEISC
  GAHSTQCIPVSWRCDGENDCDSGEDEENCGNITCSPDEFTCSSGRCISRNFVCNGQDDCS
  DGSDELDCAPPTCGAHEFQCSTSSCIPISWVCDDDADCSDQSDESLEQCGRQPVIHTKCP
  ASEIQCGSGECIHKKWRCDGDPDCKDGSDEVNCPSRTCRPDQFECEDGSCIHGSRQCNGI
  RDCVDGSDEVNCKNVNQCLGPGKFKCRSGECIDISKVCNQEQDCRDWSDEPLKECHINEC
  LVNNGGCSHICKDLVIGYECDCAAGFELIDRKTCGDIDECQNPGICSQICINLKGGYKCE
  CSRGYQMDLATGVCKAVGKEPSLIFTNRRDIRKIGLERKEYIQLVEQLRNTVALDADIAA
  QKLFWADLSQKAIFSASIDDKVGRHVKMIDNVYNPAAIAVDWVYKTIYWTDAASKTISVA
  TLDGTKRKFLFNSDLREPASIAVDPLSGFVYWSDWGEPAKIEKAGMNGFDRRPLVTADIQ
  WPNGITLDLIKSRLYWLDSKLHMLSSVDLNGQDRRIVLKSLEFLAHPLALTIFEDRVYWI
  DGENEAVYGANKFTGSELATLVNNLNDAQDIIVYHELVQPSGKNWCEEDMENGGCEYLCL
  PAPQINDHSPKYTCSCPSGYNVEENGRDCQSTATTVTYSETKDTNTTEISATSGLVPGGI
  NVTTAVSEVSVPPKGTSAAWAILPLLLLVMAAVGGYLMWRNWQHKNMKSMNFDNPVYLKT
  TEEDLSIDIGRHSASVGHTYPAISVVSTDDDLA

• Sequence length: 873

Pathways

KEGG:

Spinocerebellar ataxia
Lipid and atherosclerosis

Reactome:

Reelin signalling pathway
VLDLR internalisation and degradation
VLDL clearance

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
Abnormality of the nervous system	Pathogenic	rs2130810638	RCV001814487	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Pathogenic; Likely pathogenic	rs1428899305, rs2130810631, rs2130785730, rs141396971, rs1404412704, rs761330915, rs797046092, rs770269674, rs1563758564, rs2488718618, rs778298702, rs80338907, rs80338906, rs1817930102, rs2488711363, rs2488736931, rs2488734766, rs1817896308, rs149535475, rs80338905, rs1563764078, rs398122380, rs397514750	RCV005040332 RCV001784014 RCV001807943 RCV002227004 RCV002283985 RCV002284300 RCV002051689 RCV002051690 RCV003325245 RCV003152927 RCV003155822 RCV000020557 RCV000020556 RCV003325251 RCV003325252 RCV003325253 RCV003325254 RCV005047808 RCV003988145 RCV000020555 RCV000785940 RCV000049269 RCV000054559	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar hypoplasia	Pathogenic	rs397514750	RCV004798764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysequilibrium syndrome	Likely pathogenic	rs2130801524	RCV002272962	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VLDLR-related disorder	Pathogenic	rs955974361	RCV003893478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, AND DYSEQUILIBRIUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	24170703		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16384981, 30912953		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	16384981		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	9181358, 9502209		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11254915, 12063775, 29042132, 8669483, 9445249		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24733846		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	19332571	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11254915, 12063775, 29042132, 8669483, 9445249		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	29042132, 8669483	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15820235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15820235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	36039581	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	31806729, 9346319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17696882	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9346319		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23185271	Stimulate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	BEFREE	18056683		★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	18056683	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	22532556	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	16080122, 18043714, 19332571, 20199520, 22686558, 22973972, 27251579, 29371607		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	GENOMICS_ENGLAND_DG	16080122, 18326629, 18364738		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	GENOMICS_ENGLAND_DG	16080122, 18364738		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	16080122, 18326629, 19332571, 22532556	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	18326629		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	20376468		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	15820235		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28112443		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22532556	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	22532556		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11074235		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11074235		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11074235		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	35738281	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	11342683		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	34913545	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15010349		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21087152, 23096408		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30912953		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	18043714, 19332571, 22686558, 22973972, 27251579		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysequilibrium syndrome	Dysequilibrium syndrome	Pubtator	18326629, 19332571, 21885617, 22973972, 29371607	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysequilibrium syndrome	Dysequilibrium Syndrome	ORPHANET_DG	21885617		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysequilibrium syndrome	Dysequilibrium Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Dysmorphic Features	BEFREE	22532556		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	26974308		★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	12063775		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	24170703, 29289645		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24903309		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24903309	Associate	★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	Pubtator	15884130	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	30912953		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24662412	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	9445249		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	31587492, 8673104		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	11010963	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	21087152, 28428482		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	11501949		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	28199412	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	31587492		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15820235		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	10726903	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19332571, 22532556	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	27000652		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lissencephaly	Lissencephaly	BEFREE	23583063		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	22355348	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20493228		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	22532556, 32570172	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31806729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24903309		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16715143		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	9346319		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15010349		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22780124		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	27000652		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31405227	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	9409253		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28765276		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10629142, 16715143, 24903309, 28112443		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29289645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	29289645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	29289645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20975297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20975297	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	22189190, 26540043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachygyria	Pachygyria	BEFREE	20082205		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35738281	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	35738281	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39773546	Associate	★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	22532556	Associate	★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	22532556		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	11342683		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28356444		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12363388, 17936586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12363388, 17261317, 17936586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17936586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	19332571	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16376325, 31651422		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	24170703, 29289645		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16715143		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15884130, 36196723	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	23583063		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20493228		★☆☆☆☆ Found in Text Mining only