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	63976
Gene name	PR/SET domain 16
Gene symbol	PRDM16
Synonyms (NCBI Gene)	CMD1LLKMT8FLVNC8MEL1PFM13
Chromosome	1
Chromosome location	1p36.32
Summary	The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-posi

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201517837	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201517929	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202115331	T>C	Pathogenic	Missense variant, coding sequence variant
rs368409902	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374365034	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374664141	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs375314464	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs376567517	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs397514742	A>T	Pathogenic	Coding sequence variant, stop gained
rs397514743	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397514744	C>T	Pathogenic	Coding sequence variant, missense variant
rs538723120	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886041395	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057520188	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307663	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1287494453	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1553176765	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

239

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007382	hsa-miR-133b	Luciferase reporter assay	23395168
MIRT007383	hsa-miR-133a-3p	Luciferase reporter assay	23395168
MIRT027926	hsa-miR-96-5p	Sequencing	20371350
MIRT046957	hsa-miR-221-3p	CLASH	23622248
MIRT042704	hsa-miR-346	CLASH	23622248
MIRT040152	hsa-miR-615-3p	CLASH	23622248
MIRT007383	hsa-miR-133a-3p	Luciferase reporter assay	23874225
MIRT007383	hsa-miR-133a-3p	Luciferase reporter assay	23874225
MIRT734794	hsa-miR-330-5p	Luciferase reporter assayqRT-PCRIn situ hybridization	33517886
MIRT734795	hsa-miR-326	Luciferase reporter assayqRT-PCRIn situ hybridization	33517886
MIRT1260088	hsa-miR-1253	CLIP-seq
MIRT1260089	hsa-miR-1271	CLIP-seq
MIRT1260090	hsa-miR-1276	CLIP-seq
MIRT1260091	hsa-miR-1301	CLIP-seq
MIRT1260092	hsa-miR-139-5p	CLIP-seq
MIRT1260093	hsa-miR-182	CLIP-seq
MIRT1260094	hsa-miR-214	CLIP-seq
MIRT1260095	hsa-miR-302a	CLIP-seq
MIRT1260096	hsa-miR-302b	CLIP-seq
MIRT1260097	hsa-miR-302c	CLIP-seq
MIRT1260098	hsa-miR-302d	CLIP-seq
MIRT1260099	hsa-miR-302e	CLIP-seq
MIRT1260100	hsa-miR-3191	CLIP-seq
MIRT1260101	hsa-miR-331-3p	CLIP-seq
MIRT1260102	hsa-miR-339-3p	CLIP-seq
MIRT1260103	hsa-miR-3619-5p	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT1260106	hsa-miR-3689d	CLIP-seq
MIRT1260107	hsa-miR-372	CLIP-seq
MIRT1260108	hsa-miR-373	CLIP-seq
MIRT1260109	hsa-miR-4327	CLIP-seq
MIRT1260110	hsa-miR-4725-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260112	hsa-miR-4732-3p	CLIP-seq
MIRT1260113	hsa-miR-4787-5p	CLIP-seq
MIRT1260114	hsa-miR-504	CLIP-seq
MIRT1260115	hsa-miR-5047	CLIP-seq
MIRT1260116	hsa-miR-519a	CLIP-seq
MIRT1260117	hsa-miR-519b-3p	CLIP-seq
MIRT1260118	hsa-miR-519c-3p	CLIP-seq
MIRT1260119	hsa-miR-520a-3p	CLIP-seq
MIRT1260120	hsa-miR-520b	CLIP-seq
MIRT1260121	hsa-miR-520c-3p	CLIP-seq
MIRT1260122	hsa-miR-520d-3p	CLIP-seq
MIRT1260123	hsa-miR-520e	CLIP-seq
MIRT1260124	hsa-miR-761	CLIP-seq
MIRT1260125	hsa-miR-96	CLIP-seq
MIRT1260126	hsa-miR-1252	CLIP-seq
MIRT1260127	hsa-miR-1275	CLIP-seq
MIRT1260090	hsa-miR-1276	CLIP-seq
MIRT1260128	hsa-miR-3064-5p	CLIP-seq
MIRT1260129	hsa-miR-3150b-3p	CLIP-seq
MIRT1260130	hsa-miR-3153	CLIP-seq
MIRT1260131	hsa-miR-3190	CLIP-seq
MIRT1260132	hsa-miR-3192	CLIP-seq
MIRT1260133	hsa-miR-3202	CLIP-seq
MIRT1260134	hsa-miR-3652	CLIP-seq
MIRT1260135	hsa-miR-3669	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT1260136	hsa-miR-4260	CLIP-seq
MIRT1260137	hsa-miR-4292	CLIP-seq
MIRT1260138	hsa-miR-4308	CLIP-seq
MIRT1260139	hsa-miR-4426	CLIP-seq
MIRT1260140	hsa-miR-4430	CLIP-seq
MIRT1260141	hsa-miR-4488	CLIP-seq
MIRT1260142	hsa-miR-4492	CLIP-seq
MIRT1260143	hsa-miR-4498	CLIP-seq
MIRT1260144	hsa-miR-4505	CLIP-seq
MIRT1260145	hsa-miR-4525	CLIP-seq
MIRT1260146	hsa-miR-4533	CLIP-seq
MIRT1260147	hsa-miR-4647	CLIP-seq
MIRT1260148	hsa-miR-4649-3p	CLIP-seq
MIRT1260149	hsa-miR-4662b	CLIP-seq
MIRT1260150	hsa-miR-4665-5p	CLIP-seq
MIRT1260151	hsa-miR-4668-5p	CLIP-seq
MIRT1260152	hsa-miR-4689	CLIP-seq
MIRT1260153	hsa-miR-4697-5p	CLIP-seq
MIRT1260154	hsa-miR-4723-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260155	hsa-miR-4731-5p	CLIP-seq
MIRT1260156	hsa-miR-4747-5p	CLIP-seq
MIRT1260157	hsa-miR-4779	CLIP-seq
MIRT1260158	hsa-miR-4784	CLIP-seq
MIRT1260159	hsa-miR-503	CLIP-seq
MIRT1260160	hsa-miR-587	CLIP-seq
MIRT1260161	hsa-miR-615-5p	CLIP-seq
MIRT1260162	hsa-miR-625	CLIP-seq
MIRT1260163	hsa-miR-635	CLIP-seq
MIRT1260164	hsa-miR-762	CLIP-seq
MIRT1260165	hsa-miR-765	CLIP-seq
MIRT2076586	hsa-miR-1207-5p	CLIP-seq
MIRT2076587	hsa-miR-1226	CLIP-seq
MIRT2076588	hsa-miR-1237	CLIP-seq
MIRT2076589	hsa-miR-1302	CLIP-seq
MIRT2076590	hsa-miR-1827	CLIP-seq
MIRT2076591	hsa-miR-299-5p	CLIP-seq
MIRT2076592	hsa-miR-3182	CLIP-seq
MIRT2076593	hsa-miR-342-5p	CLIP-seq
MIRT2076594	hsa-miR-3616-3p	CLIP-seq
MIRT1260106	hsa-miR-3689d	CLIP-seq
MIRT2076595	hsa-miR-3940-5p	CLIP-seq
MIRT2076596	hsa-miR-4269	CLIP-seq
MIRT2076597	hsa-miR-4298	CLIP-seq
MIRT2076598	hsa-miR-4436b-3p	CLIP-seq
MIRT2076599	hsa-miR-4507	CLIP-seq
MIRT2076600	hsa-miR-4651	CLIP-seq
MIRT2076601	hsa-miR-4664-5p	CLIP-seq
MIRT2076602	hsa-miR-4763-3p	CLIP-seq
MIRT2076603	hsa-miR-513c	CLIP-seq
MIRT2076604	hsa-miR-514b-5p	CLIP-seq
MIRT2076605	hsa-miR-608	CLIP-seq
MIRT2076606	hsa-miR-629	CLIP-seq
MIRT2076607	hsa-miR-940	CLIP-seq
MIRT2303252	hsa-miR-1184	CLIP-seq
MIRT2303253	hsa-miR-1205	CLIP-seq
MIRT2076586	hsa-miR-1207-5p	CLIP-seq
MIRT2303254	hsa-miR-125a-3p	CLIP-seq
MIRT2303255	hsa-miR-1266	CLIP-seq
MIRT2303256	hsa-miR-1277	CLIP-seq
MIRT2303257	hsa-miR-128	CLIP-seq
MIRT2303258	hsa-miR-1285	CLIP-seq
MIRT2303259	hsa-miR-144	CLIP-seq
MIRT2076590	hsa-miR-1827	CLIP-seq
MIRT2303260	hsa-miR-1909	CLIP-seq
MIRT2303261	hsa-miR-1972	CLIP-seq
MIRT2303262	hsa-miR-199a-3p	CLIP-seq
MIRT2303263	hsa-miR-199b-3p	CLIP-seq
MIRT1260094	hsa-miR-214	CLIP-seq
MIRT2303264	hsa-miR-221	CLIP-seq
MIRT2303265	hsa-miR-222	CLIP-seq
MIRT2303266	hsa-miR-27a	CLIP-seq
MIRT2303267	hsa-miR-27b	CLIP-seq
MIRT2076591	hsa-miR-299-5p	CLIP-seq
MIRT1260128	hsa-miR-3064-5p	CLIP-seq
MIRT2303268	hsa-miR-3127-5p	CLIP-seq
MIRT2303269	hsa-miR-3129-5p	CLIP-seq
MIRT1260129	hsa-miR-3150b-3p	CLIP-seq
MIRT2303270	hsa-miR-3158-5p	CLIP-seq
MIRT2303271	hsa-miR-3160-5p	CLIP-seq
MIRT2303272	hsa-miR-3180-5p	CLIP-seq
MIRT2303273	hsa-miR-3187-5p	CLIP-seq
MIRT1260100	hsa-miR-3191	CLIP-seq
MIRT1260132	hsa-miR-3192	CLIP-seq
MIRT2076593	hsa-miR-342-5p	CLIP-seq
MIRT2303274	hsa-miR-34c-3p	CLIP-seq
MIRT2303275	hsa-miR-3614-5p	CLIP-seq
MIRT1260103	hsa-miR-3619-5p	CLIP-seq
MIRT1260134	hsa-miR-3652	CLIP-seq
MIRT2303276	hsa-miR-3664-3p	CLIP-seq
MIRT2303277	hsa-miR-3673	CLIP-seq
MIRT2303278	hsa-miR-3678-3p	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT1260106	hsa-miR-3689d	CLIP-seq
MIRT2303279	hsa-miR-3690	CLIP-seq
MIRT2303280	hsa-miR-378	CLIP-seq
MIRT2303281	hsa-miR-378b	CLIP-seq
MIRT2303282	hsa-miR-378c	CLIP-seq
MIRT2303283	hsa-miR-378d	CLIP-seq
MIRT2303284	hsa-miR-378e	CLIP-seq
MIRT2303285	hsa-miR-378f	CLIP-seq
MIRT2303286	hsa-miR-378h	CLIP-seq
MIRT2303287	hsa-miR-378i	CLIP-seq
MIRT2303288	hsa-miR-3934	CLIP-seq
MIRT2076595	hsa-miR-3940-5p	CLIP-seq
MIRT2303289	hsa-miR-412	CLIP-seq
MIRT2303290	hsa-miR-422a	CLIP-seq
MIRT2303291	hsa-miR-4254	CLIP-seq
MIRT1260137	hsa-miR-4292	CLIP-seq
MIRT1260138	hsa-miR-4308	CLIP-seq
MIRT2303292	hsa-miR-4317	CLIP-seq
MIRT1260140	hsa-miR-4430	CLIP-seq
MIRT2303293	hsa-miR-4446-3p	CLIP-seq
MIRT2303294	hsa-miR-4464	CLIP-seq
MIRT2303295	hsa-miR-4468	CLIP-seq
MIRT1260142	hsa-miR-4492	CLIP-seq
MIRT1260143	hsa-miR-4498	CLIP-seq
MIRT1260144	hsa-miR-4505	CLIP-seq
MIRT2076599	hsa-miR-4507	CLIP-seq
MIRT2303296	hsa-miR-4518	CLIP-seq
MIRT2303297	hsa-miR-4522	CLIP-seq
MIRT2303298	hsa-miR-4650-5p	CLIP-seq
MIRT2076600	hsa-miR-4651	CLIP-seq
MIRT2303299	hsa-miR-4660	CLIP-seq
MIRT2076601	hsa-miR-4664-5p	CLIP-seq
MIRT2303300	hsa-miR-4685-5p	CLIP-seq
MIRT2303301	hsa-miR-4704-3p	CLIP-seq
MIRT2303302	hsa-miR-4716-3p	CLIP-seq
MIRT2303303	hsa-miR-4717-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260155	hsa-miR-4731-5p	CLIP-seq
MIRT2303304	hsa-miR-4748	CLIP-seq
MIRT2303305	hsa-miR-4753-3p	CLIP-seq
MIRT2076602	hsa-miR-4763-3p	CLIP-seq
MIRT2303306	hsa-miR-4768-5p	CLIP-seq
MIRT1260158	hsa-miR-4784	CLIP-seq
MIRT2303307	hsa-miR-4797-3p	CLIP-seq
MIRT2303308	hsa-miR-4797-5p	CLIP-seq
MIRT2303309	hsa-miR-513b	CLIP-seq
MIRT2303310	hsa-miR-548v	CLIP-seq
MIRT2076605	hsa-miR-608	CLIP-seq
MIRT2303311	hsa-miR-612	CLIP-seq
MIRT2303312	hsa-miR-626	CLIP-seq
MIRT2076606	hsa-miR-629	CLIP-seq
MIRT1260163	hsa-miR-635	CLIP-seq
MIRT2303313	hsa-miR-645	CLIP-seq
MIRT1260124	hsa-miR-761	CLIP-seq
MIRT1260164	hsa-miR-762	CLIP-seq
MIRT2303314	hsa-miR-764	CLIP-seq
MIRT1260165	hsa-miR-765	CLIP-seq
MIRT2303315	hsa-miR-936	CLIP-seq
MIRT2076607	hsa-miR-940	CLIP-seq
MIRT2303252	hsa-miR-1184	CLIP-seq
MIRT1260134	hsa-miR-3652	CLIP-seq
MIRT1260104	hsa-miR-3689a-3p	CLIP-seq
MIRT1260105	hsa-miR-3689c	CLIP-seq
MIRT2303280	hsa-miR-378	CLIP-seq
MIRT2303281	hsa-miR-378b	CLIP-seq
MIRT2303282	hsa-miR-378c	CLIP-seq
MIRT2303283	hsa-miR-378d	CLIP-seq
MIRT2303284	hsa-miR-378e	CLIP-seq
MIRT2303285	hsa-miR-378f	CLIP-seq
MIRT2303286	hsa-miR-378h	CLIP-seq
MIRT2303287	hsa-miR-378i	CLIP-seq
MIRT2303290	hsa-miR-422a	CLIP-seq
MIRT1260140	hsa-miR-4430	CLIP-seq
MIRT2303293	hsa-miR-4446-3p	CLIP-seq
MIRT1260142	hsa-miR-4492	CLIP-seq
MIRT1260143	hsa-miR-4498	CLIP-seq
MIRT2303297	hsa-miR-4522	CLIP-seq
MIRT2303300	hsa-miR-4685-5p	CLIP-seq
MIRT1260111	hsa-miR-4728-5p	CLIP-seq
MIRT1260155	hsa-miR-4731-5p	CLIP-seq
MIRT1260164	hsa-miR-762	CLIP-seq
MIRT2599938	hsa-miR-431	CLIP-seq
MIRT2599939	hsa-miR-4421	CLIP-seq
MIRT2599940	hsa-miR-552	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19049980
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	12816872
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	12816872
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003713	Function	Transcription coactivator activity	ISS
GO:0005515	Function	Protein binding	IPI	19049980, 21516122, 30462309
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19049980
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016235	Component	Aggresome	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0017053	Component	Transcription repressor complex	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	14656887
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	14656887
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	19049980
GO:0030853	Process	Negative regulation of granulocyte differentiation	IDA	12816872
GO:0032259	Process	Methylation	IEA
GO:0043457	Process	Regulation of cellular respiration	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	12816872
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12816872
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12816872, 25578880
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	IEA
GO:0046974	Function	Histone H3K9 methyltransferase activity	ISS
GO:0050873	Process	Brown fat cell differentiation	ISS
GO:0070828	Process	Heterochromatin organization	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24439384, 24703692
GO:0140297	Function	DNA-binding transcription factor binding	IPI	25578880
GO:0140938	Function	Histone H3 methyltransferase activity	IEA
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140947	Function	Histone H3K9me2 methyltransferase activity	IEA
GO:0140948	Function	Histone H3K9 monomethyltransferase activity	IEA

MIM	HGNC	e!Ensembl
605557	14000	ENSG00000142611

Q9HAZ2

Protein name

Histone-lysine N-methyltransferase PRDM16 (EC 2.1.1.367) (PR domain zinc finger protein 16) (PR domain-containing protein 16) (Transcription factor MEL1) (MDS1/EVI1-like gene 1)

Protein function

Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). Probably catalyzes the monomethylation of free his

PDB

2N1I , 6BW4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13912	zf-C2H2_6	229 → 251		Domain
PF00096	zf-C2H2	281 → 303	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	309 → 331	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	337 → 360	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	366 → 388	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	394 → 416	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	423 → 444	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	951 → 973	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	979 → 1002	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	1008 → 1030	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells. {ECO:0000269|PubMed:11050005, ECO:0000269|PubMed:12816872, ECO:0000269|PubMed:23768516}.

Sequence

MRSKARARKLAKSDGDVVNNMYEPNRDLLASHSAEDEAEDSAMSPIPVGPPSPFPTSEDF
TPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAA
AKETDFGWEQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDD
QNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLGTVPPGLDEEPTFRCDECDELFQ
SKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHM
VIHTEEREYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQH
VGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEVCHKSYTQFSNLCRHKRMHADCR
TQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNH
ASLGFNEYFPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLN
HTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEKFESRLEDSCVEKLKTRSSDMSD
GSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPN
SVAEVPVFYSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLP
YHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSPRDALKVGGPSAECPFDLTTKPK
DVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLP
QVCPARMPQQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSA
IETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPTLSDPILRKGKERYTCRYCGKIF
PRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQ
TNLDRHLKKHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFI
ANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDVEEEDDDDLEEDDEDSLAGKSQD
DTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRR
AAEEAFEVKDVLNSTLDSEALKHTLCRQAKNQAYAMMLSLSEDTPLHTPSQGSLDAWLKV
TGATSESGAFHPINHL

Sequence length

1276

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways Thermogenesis		PKMTs methylate histone lysines

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, dilated, 1LL	Pathogenic	rs202115331	RCV000054523	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction 8	Pathogenic; Likely pathogenic	rs1643176372, rs2523887339, rs2523951441, rs2100664124, rs397514742, rs886041395	RCV001331228 RCV002290369 RCV003333648 RCV003985225 RCV000054518 RCV000054519 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction cardiomyopathy	Pathogenic	rs2100662912, rs397514742, rs886041395	RCV002204525 RCV002054880 RCV002295279	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRDM16-related congenital heart disease	Likely pathogenic	rs2523951441	RCV003492869	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (44)

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.
1P36 DELETION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial restrictive cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPOTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRDM16-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (179)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
1p36 deletion syndrome	1p36 deletion syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abdominal Migraine	Abdominal Migraine	CTD_human_DG	21666692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Confusional Migraine	Confusional Migraine	CTD_human_DG	21666692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18202228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12816872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	12557231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30132554, 30683132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	28710806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	LHGDN	14656887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	25085501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	32233023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26701852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26701852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	30446899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Bjornstad syndrome	Pubtator	26684393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17087626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33540684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24966940, 30683132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23768516, 24454898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24454898, 32233023, 33719213, 35893073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33719213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	33719213, 35893073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	25035420		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1LL	DILATED CARDIOMYOPATHY	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARDIOMYOPATHY, DILATED, 1LL	DILATED CARDIOMYOPATHY	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	23768516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	39198424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Migraine Syndrome	Migraine	CTD_human_DG	21666692		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	33719213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	25567132, 28710806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39643892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome	BEFREE	23768516, 25035420		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome	ORPHANET_DG	23768516		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic granulomatous disease	Granulomatous Disease	LHGDN	16582916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	33719213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34311674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	24021092, 24266335, 28058730, 31557325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25035420, 28824327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27542888		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	28824327, 35590109	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	32252817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	25891797, 29578151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34972135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	BEFREE	17087626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28127622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35721735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28127622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28127622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26418287, 28824327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26418287, 27542888, 28824327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28924151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28924151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	18202228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	18202228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	18202228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	27542888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	27893424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27893424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	23768516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	31561124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	25035420, 28824327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28824327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	21878903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemicrania migraine	Hemicrania Migraine	CTD_human_DG	21666692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	28698301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	37386647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	36007622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	29369831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33719213, 39286266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	ORPHANET_DG	23768516		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	24454898		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Left ventricular noncompaction	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION 8	Ventricular Noncompaction	UNIPROT_DG	23768516		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEFT VENTRICULAR NONCOMPACTION 8	Ventricular Noncompaction	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEFT VENTRICULAR NONCOMPACTION 8	Ventricular Noncompaction	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEFT VENTRICULAR NONCOMPACTION 8	Ventricular Noncompaction	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	23768516		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	12557231, 16015645, 17483069, 25082879, 25567132, 29878897		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12816872, 18202228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18202228	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	14585371, 14712237, 31648321, 35008106, 35473465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11050005, 12557231, 12816872, 14585371, 16015645, 22050763, 25082879, 26684393, 28710806, 29878897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12557231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24966940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35013309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	22050763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24966940, 30683132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29129783, 31452712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22039459, 22050763, 30683132		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28781622, 29069749		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	17087626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	36007622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	21666692, 22072275, 24266335, 24666033, 24698360, 28058730, 30635810, 31557325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	CTD_human_DG	21666692		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	GWASCAT_DG	21666692, 23793025, 27182965, 27322543		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	GWASDB_DG	21666692, 23793025		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	Pubtator	21666692, 24674449, 39333847	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	BEFREE	25388962, 31557325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	12557231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motion Sickness	Motion Sickness	GWASCAT_DG	25628336		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11050005, 12557231, 14585371, 16102824, 22050763, 29878897		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	12557231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	14585371, 14712237, 22050763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	12816872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	18037989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18767145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14712237, 30683132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26365511, 28104916, 29803631, 29890628, 31561124		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	28824327	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	30177354	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopoikilosis (disorder)	Osteopoikilosis	BEFREE	17087626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	15298715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29878897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	23000144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	14656887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30891314		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34051764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Migrainosus	Status Migrainosus	CTD_human_DG	21666692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31561124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29129783, 31452712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30212456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34167437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRDM16 (PR/SET domain 16)