Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51099
Gene name	Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Gene symbol	ABHD5
Synonyms (NCBI Gene)	CGI58IECN2NCIE2
Chromosome	3
Chromosome location	3p21.33
Summary	The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from ot

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28939077	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28939078	G>A	Pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs104893675	C>G	Pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs387906335	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs752473449	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs761087968	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained, intron variant
rs767648866	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1553616447	TTGG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575600969	A>G	Pathogenic	Splice acceptor variant
rs1575607298	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant

522

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002698	hsa-miR-124-3p	Microarray	15685193
MIRT002698	hsa-miR-124-3p	Microarray	18668037
MIRT002698	hsa-miR-124-3p	Microarray	15685193
MIRT031166	hsa-miR-19b-3p	Sequencing	20371350
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092036	hsa-miR-548l	PAR-CLIP	20371350
MIRT092048	hsa-miR-3973	PAR-CLIP	20371350
MIRT092028	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	20371350
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT092026	hsa-miR-527	PAR-CLIP	20371350
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092036	hsa-miR-548l	PAR-CLIP	20371350
MIRT092048	hsa-miR-3973	PAR-CLIP	20371350
MIRT092028	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	20371350
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT092026	hsa-miR-527	PAR-CLIP	20371350
MIRT092081	hsa-miR-548n	PAR-CLIP	21572407
MIRT092084	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT092030	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT092042	hsa-miR-548ab	PAR-CLIP	21572407
MIRT092043	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT092044	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT092045	hsa-miR-548ak	PAR-CLIP	21572407
MIRT092047	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT092050	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT092051	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT092052	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT092053	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT092054	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT092056	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT092029	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT092058	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT092032	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT092033	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT092037	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT092038	hsa-miR-548i	PAR-CLIP	21572407
MIRT092034	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT092041	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT092039	hsa-miR-548w	PAR-CLIP	21572407
MIRT092040	hsa-miR-548y	PAR-CLIP	21572407
MIRT092027	hsa-miR-559	PAR-CLIP	21572407
MIRT559762	hsa-miR-1245a	PAR-CLIP	21572407
MIRT559761	hsa-miR-8079	PAR-CLIP	21572407
MIRT559760	hsa-miR-8062	PAR-CLIP	21572407
MIRT092083	hsa-miR-6508-5p	PAR-CLIP	21572407
MIRT092085	hsa-miR-8067	PAR-CLIP	21572407
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT092036	hsa-miR-548l	PAR-CLIP	23446348
MIRT092048	hsa-miR-3973	PAR-CLIP	23446348
MIRT092028	hsa-miR-570-3p	PAR-CLIP	23446348
MIRT307407	hsa-miR-1254	PAR-CLIP	23446348
MIRT307408	hsa-miR-3116	PAR-CLIP	23446348
MIRT307406	hsa-miR-661	PAR-CLIP	23446348
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	23446348
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT092026	hsa-miR-527	PAR-CLIP	23446348
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT092036	hsa-miR-548l	PAR-CLIP	23592263
MIRT092048	hsa-miR-3973	PAR-CLIP	23592263
MIRT092028	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT307407	hsa-miR-1254	PAR-CLIP	23592263
MIRT307408	hsa-miR-3116	PAR-CLIP	23592263
MIRT307406	hsa-miR-661	PAR-CLIP	23592263
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	23592263
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	23592263
MIRT092026	hsa-miR-527	PAR-CLIP	23592263
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092036	hsa-miR-548l	PAR-CLIP	20371350
MIRT092048	hsa-miR-3973	PAR-CLIP	20371350
MIRT092028	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	20371350
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT092026	hsa-miR-527	PAR-CLIP	20371350
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT092036	hsa-miR-548l	PAR-CLIP	20371350
MIRT092048	hsa-miR-3973	PAR-CLIP	20371350
MIRT092028	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	20371350
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	20371350
MIRT092026	hsa-miR-527	PAR-CLIP	20371350
MIRT092081	hsa-miR-548n	PAR-CLIP	21572407
MIRT092084	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT092030	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT092042	hsa-miR-548ab	PAR-CLIP	21572407
MIRT092043	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT092044	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT092045	hsa-miR-548ak	PAR-CLIP	21572407
MIRT092047	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT092050	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT092051	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT092052	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT092053	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT092054	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT092056	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT092029	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT092058	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT092032	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT092033	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT092037	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT092038	hsa-miR-548i	PAR-CLIP	21572407
MIRT092034	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT092041	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT092039	hsa-miR-548w	PAR-CLIP	21572407
MIRT092040	hsa-miR-548y	PAR-CLIP	21572407
MIRT092027	hsa-miR-559	PAR-CLIP	21572407
MIRT559762	hsa-miR-1245a	PAR-CLIP	21572407
MIRT559761	hsa-miR-8079	PAR-CLIP	21572407
MIRT559760	hsa-miR-8062	PAR-CLIP	21572407
MIRT092083	hsa-miR-6508-5p	PAR-CLIP	21572407
MIRT092085	hsa-miR-8067	PAR-CLIP	21572407
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT092036	hsa-miR-548l	PAR-CLIP	23446348
MIRT092048	hsa-miR-3973	PAR-CLIP	23446348
MIRT092028	hsa-miR-570-3p	PAR-CLIP	23446348
MIRT307407	hsa-miR-1254	PAR-CLIP	23446348
MIRT307408	hsa-miR-3116	PAR-CLIP	23446348
MIRT307406	hsa-miR-661	PAR-CLIP	23446348
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	23446348
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	23446348
MIRT092026	hsa-miR-527	PAR-CLIP	23446348
MIRT092024	hsa-miR-19a-3p	PAR-CLIP	23592263
MIRT031166	hsa-miR-19b-3p	PAR-CLIP	23592263
MIRT092036	hsa-miR-548l	PAR-CLIP	23592263
MIRT092048	hsa-miR-3973	PAR-CLIP	23592263
MIRT092028	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT307407	hsa-miR-1254	PAR-CLIP	23592263
MIRT307408	hsa-miR-3116	PAR-CLIP	23592263
MIRT307406	hsa-miR-661	PAR-CLIP	23592263
MIRT307412	hsa-miR-6882-3p	PAR-CLIP	23592263
MIRT092025	hsa-miR-518a-5p	PAR-CLIP	23592263
MIRT092026	hsa-miR-527	PAR-CLIP	23592263
MIRT760111	hsa-miR-106a	CLIP-seq
MIRT760112	hsa-miR-106b	CLIP-seq
MIRT760113	hsa-miR-1226	CLIP-seq
MIRT760114	hsa-miR-124	CLIP-seq
MIRT760115	hsa-miR-1248	CLIP-seq
MIRT760116	hsa-miR-1297	CLIP-seq
MIRT760117	hsa-miR-1343	CLIP-seq
MIRT760118	hsa-miR-135a	CLIP-seq
MIRT760119	hsa-miR-135b	CLIP-seq
MIRT760120	hsa-miR-142-5p	CLIP-seq
MIRT760121	hsa-miR-147	CLIP-seq
MIRT760122	hsa-miR-15a	CLIP-seq
MIRT760123	hsa-miR-15b	CLIP-seq
MIRT760124	hsa-miR-16	CLIP-seq
MIRT760125	hsa-miR-17	CLIP-seq
MIRT760126	hsa-miR-186	CLIP-seq
MIRT760127	hsa-miR-195	CLIP-seq
MIRT760128	hsa-miR-19a	CLIP-seq
MIRT760129	hsa-miR-19b	CLIP-seq
MIRT760130	hsa-miR-2054	CLIP-seq
MIRT760131	hsa-miR-20a	CLIP-seq
MIRT760132	hsa-miR-20b	CLIP-seq
MIRT760133	hsa-miR-2110	CLIP-seq
MIRT760134	hsa-miR-26a	CLIP-seq
MIRT760135	hsa-miR-26b	CLIP-seq
MIRT760136	hsa-miR-297	CLIP-seq
MIRT760137	hsa-miR-299-5p	CLIP-seq
MIRT760138	hsa-miR-3074-3p	CLIP-seq
MIRT760139	hsa-miR-3133	CLIP-seq
MIRT760140	hsa-miR-3148	CLIP-seq
MIRT760141	hsa-miR-3154	CLIP-seq
MIRT760142	hsa-miR-323b-5p	CLIP-seq
MIRT760143	hsa-miR-324-5p	CLIP-seq
MIRT760144	hsa-miR-34b	CLIP-seq
MIRT760145	hsa-miR-3609	CLIP-seq
MIRT760146	hsa-miR-3662	CLIP-seq
MIRT760147	hsa-miR-3667-3p	CLIP-seq
MIRT760148	hsa-miR-3671	CLIP-seq
MIRT760149	hsa-miR-3688-3p	CLIP-seq
MIRT760150	hsa-miR-380	CLIP-seq
MIRT760151	hsa-miR-3938	CLIP-seq
MIRT760152	hsa-miR-410	CLIP-seq
MIRT760153	hsa-miR-424	CLIP-seq
MIRT760154	hsa-miR-4261	CLIP-seq
MIRT760155	hsa-miR-4271	CLIP-seq
MIRT760156	hsa-miR-4297	CLIP-seq
MIRT760157	hsa-miR-4422	CLIP-seq
MIRT760158	hsa-miR-4446-5p	CLIP-seq
MIRT760159	hsa-miR-4452	CLIP-seq
MIRT760160	hsa-miR-4465	CLIP-seq
MIRT760161	hsa-miR-4495	CLIP-seq
MIRT760162	hsa-miR-4524	CLIP-seq
MIRT760163	hsa-miR-4637	CLIP-seq
MIRT760164	hsa-miR-4659a-3p	CLIP-seq
MIRT760165	hsa-miR-4659b-3p	CLIP-seq
MIRT760166	hsa-miR-4704-3p	CLIP-seq
MIRT760167	hsa-miR-4716-3p	CLIP-seq
MIRT760168	hsa-miR-4725-3p	CLIP-seq
MIRT760169	hsa-miR-4728-3p	CLIP-seq
MIRT760170	hsa-miR-4733-3p	CLIP-seq
MIRT760171	hsa-miR-4744	CLIP-seq
MIRT760172	hsa-miR-4760-5p	CLIP-seq
MIRT760173	hsa-miR-4765	CLIP-seq
MIRT760174	hsa-miR-4773	CLIP-seq
MIRT760175	hsa-miR-4777-5p	CLIP-seq
MIRT760176	hsa-miR-4793-5p	CLIP-seq
MIRT760177	hsa-miR-4796-3p	CLIP-seq
MIRT760178	hsa-miR-4799-5p	CLIP-seq
MIRT760179	hsa-miR-488	CLIP-seq
MIRT760180	hsa-miR-490-5p	CLIP-seq
MIRT760181	hsa-miR-497	CLIP-seq
MIRT760182	hsa-miR-503	CLIP-seq
MIRT760183	hsa-miR-506	CLIP-seq
MIRT760184	hsa-miR-518d-5p	CLIP-seq
MIRT760185	hsa-miR-519a	CLIP-seq
MIRT760186	hsa-miR-519b-3p	CLIP-seq
MIRT760187	hsa-miR-519b-5p	CLIP-seq
MIRT760188	hsa-miR-519c-3p	CLIP-seq
MIRT760189	hsa-miR-519c-5p	CLIP-seq
MIRT760190	hsa-miR-519d	CLIP-seq
MIRT760191	hsa-miR-520c-5p	CLIP-seq
MIRT760192	hsa-miR-526a	CLIP-seq
MIRT760193	hsa-miR-526b	CLIP-seq
MIRT760194	hsa-miR-532-5p	CLIP-seq
MIRT760195	hsa-miR-548ah	CLIP-seq
MIRT760196	hsa-miR-567	CLIP-seq
MIRT760197	hsa-miR-570	CLIP-seq
MIRT760198	hsa-miR-579	CLIP-seq
MIRT760199	hsa-miR-582-3p	CLIP-seq
MIRT760200	hsa-miR-582-5p	CLIP-seq
MIRT760201	hsa-miR-607	CLIP-seq
MIRT760202	hsa-miR-625	CLIP-seq
MIRT760203	hsa-miR-646	CLIP-seq
MIRT760204	hsa-miR-7	CLIP-seq
MIRT760205	hsa-miR-889	CLIP-seq
MIRT760206	hsa-miR-93	CLIP-seq
MIRT760207	hsa-miR-935	CLIP-seq
MIRT1545033	hsa-miR-3649	CLIP-seq
MIRT760147	hsa-miR-3667-3p	CLIP-seq
MIRT1545034	hsa-miR-371b-5p	CLIP-seq
MIRT1545035	hsa-miR-3918	CLIP-seq
MIRT1545036	hsa-miR-4446-3p	CLIP-seq
MIRT1545037	hsa-miR-4492	CLIP-seq
MIRT1545038	hsa-miR-4498	CLIP-seq
MIRT1545039	hsa-miR-4505	CLIP-seq
MIRT1545040	hsa-miR-4512	CLIP-seq
MIRT1545041	hsa-miR-4698	CLIP-seq
MIRT1545042	hsa-miR-762	CLIP-seq
MIRT1924135	hsa-miR-122	CLIP-seq
MIRT1924136	hsa-miR-1245	CLIP-seq
MIRT1924137	hsa-miR-1247	CLIP-seq
MIRT760116	hsa-miR-1297	CLIP-seq
MIRT1924138	hsa-miR-1305	CLIP-seq
MIRT1924139	hsa-miR-132	CLIP-seq
MIRT760117	hsa-miR-1343	CLIP-seq
MIRT760118	hsa-miR-135a	CLIP-seq
MIRT760119	hsa-miR-135b	CLIP-seq
MIRT1924140	hsa-miR-150	CLIP-seq
MIRT1924141	hsa-miR-194	CLIP-seq
MIRT1924142	hsa-miR-212	CLIP-seq
MIRT760134	hsa-miR-26a	CLIP-seq
MIRT760135	hsa-miR-26b	CLIP-seq
MIRT1924143	hsa-miR-3135b	CLIP-seq
MIRT760143	hsa-miR-324-5p	CLIP-seq
MIRT1924144	hsa-miR-3613-3p	CLIP-seq
MIRT1924145	hsa-miR-3652	CLIP-seq
MIRT1924146	hsa-miR-3658	CLIP-seq
MIRT760146	hsa-miR-3662	CLIP-seq
MIRT760147	hsa-miR-3667-3p	CLIP-seq
MIRT1924147	hsa-miR-3909	CLIP-seq
MIRT1924148	hsa-miR-4267	CLIP-seq
MIRT1924149	hsa-miR-4423-5p	CLIP-seq
MIRT1924150	hsa-miR-4428	CLIP-seq
MIRT1924151	hsa-miR-4430	CLIP-seq
MIRT1545036	hsa-miR-4446-3p	CLIP-seq
MIRT760160	hsa-miR-4465	CLIP-seq
MIRT1924152	hsa-miR-4476	CLIP-seq
MIRT1924153	hsa-miR-4527	CLIP-seq
MIRT760164	hsa-miR-4659a-3p	CLIP-seq
MIRT760165	hsa-miR-4659b-3p	CLIP-seq
MIRT1924154	hsa-miR-4683	CLIP-seq
MIRT760169	hsa-miR-4728-3p	CLIP-seq
MIRT1924155	hsa-miR-4775	CLIP-seq
MIRT760176	hsa-miR-4793-5p	CLIP-seq
MIRT760180	hsa-miR-490-5p	CLIP-seq
MIRT1924156	hsa-miR-568	CLIP-seq
MIRT1924157	hsa-miR-587	CLIP-seq
MIRT1924158	hsa-miR-590-3p	CLIP-seq
MIRT760201	hsa-miR-607	CLIP-seq
MIRT1924159	hsa-miR-802	CLIP-seq
MIRT760205	hsa-miR-889	CLIP-seq
MIRT760111	hsa-miR-106a	CLIP-seq
MIRT760112	hsa-miR-106b	CLIP-seq
MIRT1924135	hsa-miR-122	CLIP-seq
MIRT760113	hsa-miR-1226	CLIP-seq
MIRT760116	hsa-miR-1297	CLIP-seq
MIRT1924138	hsa-miR-1305	CLIP-seq
MIRT2165433	hsa-miR-134	CLIP-seq
MIRT760118	hsa-miR-135a	CLIP-seq
MIRT760119	hsa-miR-135b	CLIP-seq
MIRT2165434	hsa-miR-137	CLIP-seq
MIRT2165435	hsa-miR-140-3p	CLIP-seq
MIRT760120	hsa-miR-142-5p	CLIP-seq
MIRT760125	hsa-miR-17	CLIP-seq
MIRT2165436	hsa-miR-1910	CLIP-seq
MIRT2165437	hsa-miR-1912	CLIP-seq
MIRT760128	hsa-miR-19a	CLIP-seq
MIRT760129	hsa-miR-19b	CLIP-seq
MIRT760130	hsa-miR-2054	CLIP-seq
MIRT760131	hsa-miR-20a	CLIP-seq
MIRT760132	hsa-miR-20b	CLIP-seq
MIRT760133	hsa-miR-2110	CLIP-seq
MIRT2165438	hsa-miR-214	CLIP-seq
MIRT2165439	hsa-miR-217	CLIP-seq
MIRT2165440	hsa-miR-224	CLIP-seq
MIRT760134	hsa-miR-26a	CLIP-seq
MIRT760135	hsa-miR-26b	CLIP-seq
MIRT760138	hsa-miR-3074-3p	CLIP-seq
MIRT2165441	hsa-miR-3118	CLIP-seq
MIRT2165442	hsa-miR-3126-5p	CLIP-seq
MIRT760139	hsa-miR-3133	CLIP-seq
MIRT1924143	hsa-miR-3135b	CLIP-seq
MIRT2165443	hsa-miR-3144-3p	CLIP-seq
MIRT2165444	hsa-miR-3151	CLIP-seq
MIRT2165445	hsa-miR-3164	CLIP-seq
MIRT2165446	hsa-miR-3170	CLIP-seq
MIRT2165447	hsa-miR-3179	CLIP-seq
MIRT2165448	hsa-miR-3182	CLIP-seq
MIRT2165449	hsa-miR-3189-3p	CLIP-seq
MIRT760143	hsa-miR-324-5p	CLIP-seq
MIRT2165450	hsa-miR-3529	CLIP-seq
MIRT760145	hsa-miR-3609	CLIP-seq
MIRT2165451	hsa-miR-3614-3p	CLIP-seq
MIRT2165452	hsa-miR-3614-5p	CLIP-seq
MIRT2165453	hsa-miR-3616-5p	CLIP-seq
MIRT2165454	hsa-miR-3619-5p	CLIP-seq
MIRT2165455	hsa-miR-3647-5p	CLIP-seq
MIRT1924145	hsa-miR-3652	CLIP-seq
MIRT1924146	hsa-miR-3658	CLIP-seq
MIRT760146	hsa-miR-3662	CLIP-seq
MIRT2165456	hsa-miR-3685	CLIP-seq
MIRT1545034	hsa-miR-371b-5p	CLIP-seq
MIRT2165457	hsa-miR-379	CLIP-seq
MIRT760150	hsa-miR-380	CLIP-seq
MIRT2165458	hsa-miR-384	CLIP-seq
MIRT1545035	hsa-miR-3918	CLIP-seq
MIRT2165459	hsa-miR-3977	CLIP-seq
MIRT760152	hsa-miR-410	CLIP-seq
MIRT2165460	hsa-miR-421	CLIP-seq
MIRT2165461	hsa-miR-4257	CLIP-seq
MIRT2165462	hsa-miR-4266	CLIP-seq
MIRT760155	hsa-miR-4271	CLIP-seq
MIRT2165463	hsa-miR-4276	CLIP-seq
MIRT2165464	hsa-miR-4291	CLIP-seq
MIRT760156	hsa-miR-4297	CLIP-seq
MIRT2165465	hsa-miR-4302	CLIP-seq
MIRT2165466	hsa-miR-431	CLIP-seq
MIRT2165467	hsa-miR-4326	CLIP-seq
MIRT2165468	hsa-miR-4328	CLIP-seq
MIRT2165469	hsa-miR-4418	CLIP-seq
MIRT1924149	hsa-miR-4423-5p	CLIP-seq
MIRT1924151	hsa-miR-4430	CLIP-seq
MIRT760158	hsa-miR-4446-5p	CLIP-seq
MIRT2165470	hsa-miR-4447	CLIP-seq
MIRT760159	hsa-miR-4452	CLIP-seq
MIRT760160	hsa-miR-4465	CLIP-seq
MIRT2165471	hsa-miR-4472	CLIP-seq
MIRT760161	hsa-miR-4495	CLIP-seq
MIRT2165472	hsa-miR-4496	CLIP-seq
MIRT2165473	hsa-miR-4511	CLIP-seq
MIRT1545040	hsa-miR-4512	CLIP-seq
MIRT2165474	hsa-miR-455-3p	CLIP-seq
MIRT2165475	hsa-miR-4635	CLIP-seq
MIRT2165476	hsa-miR-4653-3p	CLIP-seq
MIRT2165477	hsa-miR-4695-5p	CLIP-seq
MIRT1545041	hsa-miR-4698	CLIP-seq
MIRT2165478	hsa-miR-4699-3p	CLIP-seq
MIRT760166	hsa-miR-4704-3p	CLIP-seq
MIRT2165479	hsa-miR-4705	CLIP-seq
MIRT2165480	hsa-miR-4709-5p	CLIP-seq
MIRT2165481	hsa-miR-4714-3p	CLIP-seq
MIRT2165482	hsa-miR-4717-3p	CLIP-seq
MIRT2165483	hsa-miR-4724-5p	CLIP-seq
MIRT760168	hsa-miR-4725-3p	CLIP-seq
MIRT760169	hsa-miR-4728-3p	CLIP-seq
MIRT760170	hsa-miR-4733-3p	CLIP-seq
MIRT760172	hsa-miR-4760-5p	CLIP-seq
MIRT760175	hsa-miR-4777-5p	CLIP-seq
MIRT2165484	hsa-miR-4779	CLIP-seq
MIRT2165485	hsa-miR-4781-3p	CLIP-seq
MIRT2165486	hsa-miR-4789-3p	CLIP-seq
MIRT760177	hsa-miR-4796-3p	CLIP-seq
MIRT2165487	hsa-miR-4802-3p	CLIP-seq
MIRT2165488	hsa-miR-491-5p	CLIP-seq
MIRT2165489	hsa-miR-495	CLIP-seq
MIRT2165490	hsa-miR-498	CLIP-seq
MIRT2165491	hsa-miR-499-3p	CLIP-seq
MIRT2165492	hsa-miR-499a-3p	CLIP-seq
MIRT2165493	hsa-miR-502-5p	CLIP-seq
MIRT2165494	hsa-miR-509-3-5p	CLIP-seq
MIRT2165495	hsa-miR-509-5p	CLIP-seq
MIRT760184	hsa-miR-518d-5p	CLIP-seq
MIRT760185	hsa-miR-519a	CLIP-seq
MIRT760186	hsa-miR-519b-3p	CLIP-seq
MIRT760187	hsa-miR-519b-5p	CLIP-seq
MIRT760188	hsa-miR-519c-3p	CLIP-seq
MIRT760189	hsa-miR-519c-5p	CLIP-seq
MIRT760190	hsa-miR-519d	CLIP-seq
MIRT760191	hsa-miR-520c-5p	CLIP-seq
MIRT760192	hsa-miR-526a	CLIP-seq
MIRT2165496	hsa-miR-548aa	CLIP-seq
MIRT2165497	hsa-miR-548ac	CLIP-seq
MIRT760195	hsa-miR-548ah	CLIP-seq
MIRT2165498	hsa-miR-548b-3p	CLIP-seq
MIRT2165499	hsa-miR-548c-3p	CLIP-seq
MIRT2165500	hsa-miR-548d-3p	CLIP-seq
MIRT2165501	hsa-miR-548z	CLIP-seq
MIRT2165502	hsa-miR-573	CLIP-seq
MIRT760200	hsa-miR-582-5p	CLIP-seq
MIRT2165503	hsa-miR-622	CLIP-seq
MIRT2165504	hsa-miR-626	CLIP-seq
MIRT2165505	hsa-miR-642b	CLIP-seq
MIRT760204	hsa-miR-7	CLIP-seq
MIRT2165506	hsa-miR-758	CLIP-seq
MIRT2165507	hsa-miR-761	CLIP-seq
MIRT760205	hsa-miR-889	CLIP-seq
MIRT2165508	hsa-miR-890	CLIP-seq
MIRT2165509	hsa-miR-922	CLIP-seq
MIRT760206	hsa-miR-93	CLIP-seq
MIRT760207	hsa-miR-935	CLIP-seq
MIRT1924135	hsa-miR-122	CLIP-seq
MIRT760114	hsa-miR-124	CLIP-seq
MIRT2165439	hsa-miR-217	CLIP-seq
MIRT760136	hsa-miR-297	CLIP-seq
MIRT1924143	hsa-miR-3135b	CLIP-seq
MIRT760143	hsa-miR-324-5p	CLIP-seq
MIRT760144	hsa-miR-34b	CLIP-seq
MIRT1924145	hsa-miR-3652	CLIP-seq
MIRT2165469	hsa-miR-4418	CLIP-seq
MIRT1924151	hsa-miR-4430	CLIP-seq
MIRT760163	hsa-miR-4637	CLIP-seq
MIRT760183	hsa-miR-506	CLIP-seq
MIRT2165494	hsa-miR-509-3-5p	CLIP-seq
MIRT2165495	hsa-miR-509-5p	CLIP-seq
MIRT760196	hsa-miR-567	CLIP-seq
MIRT760199	hsa-miR-582-3p	CLIP-seq
MIRT2165503	hsa-miR-622	CLIP-seq
MIRT2442961	hsa-miR-1283	CLIP-seq
MIRT760151	hsa-miR-3938	CLIP-seq
MIRT2442961	hsa-miR-1283	CLIP-seq
MIRT2467511	hsa-miR-140-5p	CLIP-seq
MIRT760126	hsa-miR-186	CLIP-seq
MIRT2165438	hsa-miR-214	CLIP-seq
MIRT2467512	hsa-miR-29a	CLIP-seq
MIRT2467513	hsa-miR-29b	CLIP-seq
MIRT2467514	hsa-miR-29c	CLIP-seq
MIRT760138	hsa-miR-3074-3p	CLIP-seq
MIRT760139	hsa-miR-3133	CLIP-seq
MIRT2165447	hsa-miR-3179	CLIP-seq
MIRT2467515	hsa-miR-3545-5p	CLIP-seq
MIRT2467516	hsa-miR-3591-5p	CLIP-seq
MIRT2165454	hsa-miR-3619-5p	CLIP-seq
MIRT760146	hsa-miR-3662	CLIP-seq
MIRT2467517	hsa-miR-4272	CLIP-seq
MIRT2165464	hsa-miR-4291	CLIP-seq
MIRT760159	hsa-miR-4452	CLIP-seq
MIRT2467518	hsa-miR-4460	CLIP-seq
MIRT2467519	hsa-miR-4727-3p	CLIP-seq
MIRT760171	hsa-miR-4744	CLIP-seq
MIRT760172	hsa-miR-4760-5p	CLIP-seq
MIRT2165497	hsa-miR-548ac	CLIP-seq
MIRT2467520	hsa-miR-548ae	CLIP-seq
MIRT2467521	hsa-miR-548aj	CLIP-seq
MIRT2467522	hsa-miR-548am	CLIP-seq
MIRT2165500	hsa-miR-548d-3p	CLIP-seq
MIRT2467523	hsa-miR-548x	CLIP-seq
MIRT2165501	hsa-miR-548z	CLIP-seq
MIRT760197	hsa-miR-570	CLIP-seq
MIRT1924158	hsa-miR-590-3p	CLIP-seq
MIRT2165507	hsa-miR-761	CLIP-seq
MIRT760205	hsa-miR-889	CLIP-seq
MIRT2165509	hsa-miR-922	CLIP-seq
MIRT760207	hsa-miR-935	CLIP-seq
MIRT2674109	hsa-miR-1206	CLIP-seq
MIRT1924135	hsa-miR-122	CLIP-seq
MIRT2442961	hsa-miR-1283	CLIP-seq
MIRT2467511	hsa-miR-140-5p	CLIP-seq
MIRT760126	hsa-miR-186	CLIP-seq
MIRT2674110	hsa-miR-2052	CLIP-seq
MIRT2674111	hsa-miR-2053	CLIP-seq
MIRT2165439	hsa-miR-217	CLIP-seq
MIRT2674112	hsa-miR-2681	CLIP-seq
MIRT2467512	hsa-miR-29a	CLIP-seq
MIRT2467513	hsa-miR-29b	CLIP-seq
MIRT2467514	hsa-miR-29c	CLIP-seq
MIRT760138	hsa-miR-3074-3p	CLIP-seq
MIRT760139	hsa-miR-3133	CLIP-seq
MIRT1924143	hsa-miR-3135b	CLIP-seq
MIRT2467515	hsa-miR-3545-5p	CLIP-seq
MIRT2467516	hsa-miR-3591-5p	CLIP-seq
MIRT1924145	hsa-miR-3652	CLIP-seq
MIRT760146	hsa-miR-3662	CLIP-seq
MIRT1924151	hsa-miR-4430	CLIP-seq
MIRT760159	hsa-miR-4452	CLIP-seq
MIRT2467518	hsa-miR-4460	CLIP-seq
MIRT2674113	hsa-miR-4726-3p	CLIP-seq
MIRT2467519	hsa-miR-4727-3p	CLIP-seq
MIRT760171	hsa-miR-4744	CLIP-seq
MIRT2674114	hsa-miR-4747-5p	CLIP-seq
MIRT2165497	hsa-miR-548ac	CLIP-seq
MIRT2467520	hsa-miR-548ae	CLIP-seq
MIRT2467521	hsa-miR-548aj	CLIP-seq
MIRT2467522	hsa-miR-548am	CLIP-seq
MIRT2165499	hsa-miR-548c-3p	CLIP-seq
MIRT2165500	hsa-miR-548d-3p	CLIP-seq
MIRT2467523	hsa-miR-548x	CLIP-seq
MIRT2165501	hsa-miR-548z	CLIP-seq
MIRT2674115	hsa-miR-569	CLIP-seq
MIRT760197	hsa-miR-570	CLIP-seq
MIRT2674116	hsa-miR-576-3p	CLIP-seq
MIRT1924158	hsa-miR-590-3p	CLIP-seq
MIRT760207	hsa-miR-935	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IDA	18606822
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA
GO:0004806	Function	Triacylglycerol lipase activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	21498505
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IDA	18606822
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0010891	Process	Negative regulation of triglyceride storage	IBA
GO:0010891	Process	Negative regulation of triglyceride storage	IEA
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IBA
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IDA	16679289
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042171	Function	Lysophosphatidic acid acyltransferase activity	IBA
GO:0042171	Function	Lysophosphatidic acid acyltransferase activity	IDA	18606822
GO:0050996	Process	Positive regulation of lipid catabolic process	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IBA
GO:0055088	Process	Lipid homeostasis	IBA
GO:0060229	Function	Lipase activator activity	IEA

MIM	HGNC	e!Ensembl
604780	21396	ENSG00000011198

Q8WTS1

Protein name

1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (EC 2.3.1.51) (Abhydrolase domain-containing protein 5) (Lipid droplet-binding protein CGI-58)

Protein function

Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfer of an acyl group on a lysophosphatidic acid (PubMed:18606822). Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosph

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00561	Abhydrolase_1	76 → 334	alpha/beta hydrolase fold	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level). {ECO:0000269|PubMed:11590543,

Sequence

MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNG
NKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRF
DSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWG
FPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCI
DGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD

Sequence length

349

Interactions

View interactions

	KEGG
	Regulation of lipolysis in adipocytes

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABHD5-related disorder	Likely pathogenic	rs2528725105	RCV003420738	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triglyceride storage disease with ichthyosis	Likely pathogenic; Pathogenic	rs370301465, rs762662276, rs2528785198, rs908673218, rs104893675, rs1575600969, rs28939077, rs387906335, rs28939078, rs387906336, rs367740710, rs1288452350, rs2528785092, rs761087968, rs1575607298 View all (4 more)	RCV001780637 RCV002466750 RCV005870055 RCV000005676 RCV000005677 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DORFMAN-CHANARIN DISEASE	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMELLAR ICHTHYOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, SPINE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (75)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromegaly	Acromegaly	Pubtator	26087292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23478628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26663986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27559856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27559856, 29026202, 30842415, 31439546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29026202	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	14708602, 18606822, 19401457, 20023287, 21544567, 23756328, 25300978, 30361410, 30527376, 30795549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	11590543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25118138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30954460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	30954460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ebstein Anomaly	Ebstein anomaly	Pubtator	29843625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30936746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	26353074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	18644654, 24628803, 31497752, 32542055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23302688, 24628803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	27124600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	24628803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	24628803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	31883530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	14708602, 18606822, 19401457, 20023287, 21544567, 23756328, 25300978, 30361410, 30527376, 30795549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma Congenital	Congenital ichthyosiform erythroderma	Pubtator	27025581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	14708602, 27025581, 35173175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	11590543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	25300978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	27025581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	30457558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	24628803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30936746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28877685, 29026202, 30936746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23478628, 31439546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27559856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35173175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	BEFREE	15127008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	32886284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	39769211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19401457, 21544567, 25300978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27559856, 29026202, 30936746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutral lipid storage disease with ichthyosis	Neutral Lipid Storage Disease With Ichthyosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutral Lipid Storage Disease with Myopathy	Neutral lipid storage myopathy	BEFREE	19208393, 19401457, 30795549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30954460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21129760, 25431838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27780978	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28877685, 29026202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28877685, 33219129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29026202	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	19208393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29130490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15127008, 18644654, 22245374, 23302688, 24628803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	22245374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	11590543, 14708602, 15127008, 16679289, 16741516, 17187067, 18606822, 18644654, 19061969, 19208393, 19401457, 19801371, 20023287, 20307695, 20370797 View all (18 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	GENOMICS_ENGLAND_DG	11590543, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	UNIPROT_DG	11590543, 16679289, 17495960, 18606822		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	ORPHANET_DG	18606822		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	CLINVAR_DG	6181472		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23478628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase)