HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)

Gene

• Entrez ID: 8924
• Gene name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
• Gene symbol: HERC2
• Synonyms (NCBI Gene): D15F37S1, MRT38, SHEP1, jdf2, p528
• Chromosome: 15
• Chromosome location: 15q13.1
• Summary: This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-termi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs916977	T>C,G	Affects	Genic upstream transcript variant, intron variant
rs200457382	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs373175587	A>T	Pathogenic, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs397518474	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs575492335	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs752908306	G>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1057518934	G>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519727	A>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1555415658	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1555444543	GTCCAGTCCTGGCAA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1596199137	->ATCAC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1596207451	->TC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023773	hsa-miR-1-3p	Proteomics	18668040
MIRT026472	hsa-miR-192-5p	Microarray	19074876
MIRT042693	hsa-miR-196b-5p	CLASH	23622248
MIRT041348	hsa-miR-193b-3p	CLASH	23622248
MIRT037101	hsa-miR-877-3p	CLASH	23622248
MIRT497911	hsa-miR-4798-3p	PAR-CLIP	22291592
MIRT497910	hsa-miR-488-3p	PAR-CLIP	22291592
MIRT440515	hsa-miR-382-3p	HITS-CLIP	24374217
MIRT440514	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440513	hsa-miR-1185-2-3p	HITS-CLIP	24374217
MIRT440511	hsa-miR-1185-1-3p	HITS-CLIP	24374217
MIRT440512	hsa-miR-544a	HITS-CLIP	24374217
MIRT440515	hsa-miR-382-3p	HITS-CLIP	24374217
MIRT440514	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440513	hsa-miR-1185-2-3p	HITS-CLIP	24374217
MIRT440511	hsa-miR-1185-1-3p	HITS-CLIP	24374217
MIRT440512	hsa-miR-544a	HITS-CLIP	24374217
MIRT497911	hsa-miR-4798-3p	PAR-CLIP	22291592
MIRT497910	hsa-miR-488-3p	PAR-CLIP	22291592
MIRT1044301	hsa-miR-103a	CLIP-seq
MIRT1044302	hsa-miR-107	CLIP-seq
MIRT1044303	hsa-miR-1208	CLIP-seq
MIRT1044304	hsa-miR-1229	CLIP-seq
MIRT1044305	hsa-miR-128	CLIP-seq
MIRT1044306	hsa-miR-1297	CLIP-seq
MIRT1044307	hsa-miR-1910	CLIP-seq
MIRT1044308	hsa-miR-200b	CLIP-seq
MIRT1044309	hsa-miR-200c	CLIP-seq
MIRT1044310	hsa-miR-203	CLIP-seq
MIRT1044311	hsa-miR-26a	CLIP-seq
MIRT1044312	hsa-miR-26b	CLIP-seq
MIRT1044313	hsa-miR-30a	CLIP-seq
MIRT1044314	hsa-miR-30b	CLIP-seq
MIRT1044315	hsa-miR-30c	CLIP-seq
MIRT1044316	hsa-miR-30d	CLIP-seq
MIRT1044317	hsa-miR-30e	CLIP-seq
MIRT1044318	hsa-miR-329	CLIP-seq
MIRT1044319	hsa-miR-362-3p	CLIP-seq
MIRT1044320	hsa-miR-3667-5p	CLIP-seq
MIRT1044321	hsa-miR-369-3p	CLIP-seq
MIRT1044322	hsa-miR-374a	CLIP-seq
MIRT1044323	hsa-miR-374b	CLIP-seq
MIRT1044324	hsa-miR-380	CLIP-seq
MIRT1044325	hsa-miR-3937	CLIP-seq
MIRT1044326	hsa-miR-3939	CLIP-seq
MIRT1044327	hsa-miR-3941	CLIP-seq
MIRT1044328	hsa-miR-4255	CLIP-seq
MIRT1044329	hsa-miR-4282	CLIP-seq
MIRT1044330	hsa-miR-429	CLIP-seq
MIRT1044331	hsa-miR-4310	CLIP-seq
MIRT1044332	hsa-miR-4428	CLIP-seq
MIRT1044333	hsa-miR-4465	CLIP-seq
MIRT1044334	hsa-miR-466	CLIP-seq
MIRT1044335	hsa-miR-4666-5p	CLIP-seq
MIRT1044336	hsa-miR-4672	CLIP-seq
MIRT1044337	hsa-miR-4782-5p	CLIP-seq
MIRT1044338	hsa-miR-488	CLIP-seq
MIRT1044339	hsa-miR-586	CLIP-seq
MIRT1044340	hsa-miR-603	CLIP-seq
MIRT1044301	hsa-miR-103a	CLIP-seq
MIRT1044302	hsa-miR-107	CLIP-seq
MIRT2009632	hsa-miR-1272	CLIP-seq
MIRT2009633	hsa-miR-1322	CLIP-seq
MIRT2009634	hsa-miR-1324	CLIP-seq
MIRT2009635	hsa-miR-139-5p	CLIP-seq
MIRT2009636	hsa-miR-149	CLIP-seq
MIRT2009637	hsa-miR-151-5p	CLIP-seq
MIRT2009638	hsa-miR-151b	CLIP-seq
MIRT2009639	hsa-miR-184	CLIP-seq
MIRT1044307	hsa-miR-1910	CLIP-seq
MIRT2009640	hsa-miR-27a	CLIP-seq
MIRT2009641	hsa-miR-27b	CLIP-seq
MIRT2009642	hsa-miR-299-5p	CLIP-seq
MIRT2009643	hsa-miR-3131	CLIP-seq
MIRT1044318	hsa-miR-329	CLIP-seq
MIRT1044319	hsa-miR-362-3p	CLIP-seq
MIRT1044324	hsa-miR-380	CLIP-seq
MIRT1044327	hsa-miR-3941	CLIP-seq
MIRT2009644	hsa-miR-4258	CLIP-seq
MIRT1044331	hsa-miR-4310	CLIP-seq
MIRT2009645	hsa-miR-4514	CLIP-seq
MIRT2009646	hsa-miR-4645-5p	CLIP-seq
MIRT1044334	hsa-miR-466	CLIP-seq
MIRT1044335	hsa-miR-4666-5p	CLIP-seq
MIRT1044336	hsa-miR-4672	CLIP-seq
MIRT2009647	hsa-miR-4673	CLIP-seq
MIRT2009648	hsa-miR-4692	CLIP-seq
MIRT2009649	hsa-miR-4733-3p	CLIP-seq
MIRT2009650	hsa-miR-513a-5p	CLIP-seq
MIRT2009651	hsa-miR-579	CLIP-seq
MIRT1044340	hsa-miR-603	CLIP-seq
MIRT2009652	hsa-miR-611	CLIP-seq
MIRT2009653	hsa-miR-659	CLIP-seq
MIRT2009654	hsa-miR-664	CLIP-seq
MIRT1044301	hsa-miR-103a	CLIP-seq
MIRT1044302	hsa-miR-107	CLIP-seq
MIRT2241919	hsa-miR-1245b-3p	CLIP-seq
MIRT2241920	hsa-miR-1253	CLIP-seq
MIRT2009632	hsa-miR-1272	CLIP-seq
MIRT2009633	hsa-miR-1322	CLIP-seq
MIRT2009636	hsa-miR-149	CLIP-seq
MIRT1044307	hsa-miR-1910	CLIP-seq
MIRT2241921	hsa-miR-300	CLIP-seq
MIRT1044313	hsa-miR-30a	CLIP-seq
MIRT1044314	hsa-miR-30b	CLIP-seq
MIRT1044315	hsa-miR-30c	CLIP-seq
MIRT1044316	hsa-miR-30d	CLIP-seq
MIRT1044317	hsa-miR-30e	CLIP-seq
MIRT2009643	hsa-miR-3131	CLIP-seq
MIRT2241922	hsa-miR-3192	CLIP-seq
MIRT2241923	hsa-miR-323b-3p	CLIP-seq
MIRT1044318	hsa-miR-329	CLIP-seq
MIRT1044319	hsa-miR-362-3p	CLIP-seq
MIRT1044320	hsa-miR-3667-5p	CLIP-seq
MIRT2241924	hsa-miR-3689a-3p	CLIP-seq
MIRT2241925	hsa-miR-3689c	CLIP-seq
MIRT1044324	hsa-miR-380	CLIP-seq
MIRT2241926	hsa-miR-381	CLIP-seq
MIRT1044327	hsa-miR-3941	CLIP-seq
MIRT2241927	hsa-miR-3942-3p	CLIP-seq
MIRT2241928	hsa-miR-410	CLIP-seq
MIRT1044331	hsa-miR-4310	CLIP-seq
MIRT1044334	hsa-miR-466	CLIP-seq
MIRT2241929	hsa-miR-4666-3p	CLIP-seq
MIRT1044335	hsa-miR-4666-5p	CLIP-seq
MIRT2241930	hsa-miR-4670-3p	CLIP-seq
MIRT1044336	hsa-miR-4672	CLIP-seq
MIRT2241931	hsa-miR-4728-5p	CLIP-seq
MIRT1044338	hsa-miR-488	CLIP-seq
MIRT2241932	hsa-miR-587	CLIP-seq
MIRT1044340	hsa-miR-603	CLIP-seq
MIRT2009652	hsa-miR-611	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HLTF	Unknown	22234890
LEF1	Unknown	22234890
MITF	Unknown	22234890

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	NAS	9949213
GO:0005515	Function	Protein binding	IPI	20023648, 20304803, 28514442, 29426014, 31413325, 33961781, 35140242, 36241744
GO:0005634	Component	Nucleus	IDA	20304803
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20304803
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006886	Process	Intracellular protein transport	NAS	9949213
GO:0006974	Process	DNA damage response	IDA	22508508
GO:0006974	Process	DNA damage response	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	20304803
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	22508508
GO:0032183	Function	SUMO binding	IDA	22508508
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	20304803
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

Other IDs

• MIM: 605837
• HGNC: 4868
• e!Ensembl: ENSG00000128731

Protein

• UniProt ID: O95714
• Protein name: E3 ubiquitin-protein ligase HERC2 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 2) (HECT-type E3 ubiquitin transferase HERC2)
• Protein function: E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting
• PDB: 2KEO, 3KCI, 4L1M, 6WW3, 6WW4, 7Q40, 7Q41, 7Q42, 7Q43, 7Q44, 7Q45, 7Q46, 7RGW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00415	RCC1	513 → 566	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	569 → 615	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	623 → 672	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	675 → 724	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00173	Cyt-b5	1211 → 1283	Cytochrome b5-like Heme/Steroid binding domain	Domain
  PF06701	MIB_HERC2	1870 → 1930	Mib_herc2	Domain
  PF11515	Cul7	2554 → 2631	Mouse development and cellular proliferation protein Cullin-7	Family
  PF00569	ZZ	2702 → 2746	Zinc finger, ZZ type	Domain
  PF03256	ANAPC10	2782 → 2923	Anaphase-promoting complex, subunit 10 (APC10)	Family
  PF00415	RCC1	3010 → 3062	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	3065 → 3114	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	3117 → 3162	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	3171 → 3220	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	3223 → 3272	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	3275 → 3324	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	4003 → 4054	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	4057 → 4106	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	4109 → 4154	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	4163 → 4212	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	4215 → 4264	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00415	RCC1	4267 → 4316	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF00632	HECT	4487 → 4793	HECT-domain (ubiquitin-transferase)	Domain

• Sequence:

  MPSESFCLAAQARLDSKWLKTDIQLAFTRDGLCGLWNEMVKDGEIVYTGTESTQNGELPP
  RKDDSVEPSGTKKEDLNDKEKKDEEETPAPIYRAKSILDSWVWGKQPDVNELKECLSVLV
  KEQQALAVQSATTTLSALRLKQRLVILERYFIALNRTVFQENVKVKWKSSGISLPPVDKK
  SSRPAGKGVEGLARVGSRAALSFAFAFLRRAWRSGEDADLCSELLQESLDALRALPEASL
  FDESTVSSVWLEVVERATRFLRSVVTGDVHGTPATKGPGSIPLQDQHLALAILLELAVQR
  GTLSQMLSAILLLLQLWDSGAQETDNERSAQGTSAPLLPLLQRFQSIICRKDAPHSEGDM
  HLLSGPLSPNESFLRYLTLPQDNELAIDLRQTAVVVMAHLDRLATPCMPPLCSSPTSHKG
  SLQEVIGWGLIGWKYYANVIGPIQCEGLANLGVTQIACAEKRFLILSRNGRVYTQAYNSD
  TLAPQLVQGLASRNIVKIAAHSDGHHYLALAATGEVYSWGCGDGGRLGHGDTVPLEEPKV
  ISAFSGKQAGKHVVHIACGSTYSAAITAEGELYTWGRGNYGRLGHGSSEDEAIPMLVAGL
  KGLKVIDVACGSGDAQTLAVTENGQVWSWGDGDYGKLGRGGSDGCKTPKLIEKLQDLDVV
  KVRCGSQFSIALTKDGQVYSWGKGDNQRLGHGTEEHVRYPKLLEGLQGKKVIDVAAGSTH
  CLALTEDSEVHSWGSNDQCQHFDTLRVTKPEPAALPGLDTKHIVGIACGPAQSFAWSSCS
  EWSIGLRVPFVVDICSMTFEQLDLLLRQVSEGMDGSADWPPPQEKECVAVATLNLLRLQL
  HAAISHQVDPEFLGLGLGSILLNSLKQTVVTLASSAGVLSTVQSAAQAVLQSGWSVLLPT
  AEERARALSALLPCAVSGNEVNISPGRRFMIDLLVGSLMADGGLESALHAAITAEIQDIE
  AKKEAQKEKEIDEQEANASTFHRSRTPLDKDLINTGICESSGKQCLPLVQLIQQLLRNIA
  SQTVARLKDVARRISSCLDFEQHSRERSASLDLLLRFQRLLISKLYPGESIGQTSDISSP
  ELMGVGSLLKKYTALLCTHIGDILPVAASIASTSWRHFAEVAYIVEGDFTGVLLPELVVS
  IVLLLSKNAGLMQEAGAVPLLGGLLEHLDRFNHLAPGKERDDHEELAWPGIMESFFTGQN
  CRNNEEVTLIRKADLENHNKDGGFWTVIDGKVYDIKDFQTQSLTGNSILAQFAGEDPVVA
  LEAALQFEDTRESMHAFCVGQYLEPDQEIVTIPDLGSLSSPLIDTERNLGLLLGLHASYL
  AMSTPLSPVEIECAKWLQSSIFSGGLQTSQIHYSYNEEKDEDHCSSPGGTPASKSRLCSH
  RRALGDHSQAFLQAIADNNIQDHNVKDFLCQIERYCRQCHLTTPIMFPPEHPVEEVGRLL
  LCCLLKHEDLGHVALSLVHAGALGIEQVKHRTLPKSVVDVCRVVYQAKCSLIKTHQEQGR
  SYKEVCAPVIERLRFLFNELRPAVCNDLSIMSKFKLLSSLPRWRRIAQKIIRERRKKRVP
  KKPESTDDEEKIGNEESDLEEACILPHSPINVDKRPIAIKSPKDKWQPLLSTVTGVHKYK
  WLKQNVQGLYPQSPLLSTIAEFALKEEPVDVEKMRKCLLKQLERAEVRLEGIDTILKLAS
  KNFLLPSVQYAMFCGWQRLIPEGIDIGEPLTDCLKDVDLIPPFNRMLLEVTFGKLYAWAV
  QNIRNVLMDASAKFKELGIQPVPLQTITNENPSGPSLGTIPQARFLLVMLSMLTLQHGAN
  NLDLLLNSGMLALTQTALRLIGPSCDNVEEDMNASAQGASATVLEETRKETAPVQLPVSG
  PELAAMMKIGTRVMRGVDWKWGDQDGPPPGLGRVIGELGEDGWIRVQWDTGSTNSYRMGK
  EGKYDLKLAELPAAAQPSAEDSDTEDDSEAEQTERNIHPTAMMFTSTINLLQTLCLSAGV
  HAEIMQSEATKTLCGLLRMLVESGTTDKTSSPNRLVYREQHRSWCTLGFVRSIALTPQVC
  GALSSPQWITLLMKVVEGHAPFTATSLQRQILAVHLLQAVLPSWDKTERARDMKCLVEKL
  FDFLGSLLTTCSSDVPLLRESTLRRRRVRPQASLTATHSSTLAEEVVALLRTLHSLTQWN
  GLINKYINSQLRSITHSFVGRPSEGAQLEDYFPDSENPEVGGLMAVLAVIGGIDGRLRLG
  GQVMHDEFGEGTVTRITPKGKITVQFSDMRTCRVCPLNQLKPLPAVAFNVNNLPFTEPML
  SVWAQLVNLAGSKLEKHKIKKSTKQAFAGQVDLDLLRCQQLKLYILKAGRALLSHQDKLR
  QILSQPAVQETGTVHTDDGAVVSPDLGDMSPEGPQPPMILLQQLLASATQPSPVKAIFDK
  QELEAAALAVCQCLAVESTHPSSPGFEDCSSSEATTPVAVQHIRPARVKRRKQSPVPALP
  IVVQLMEMGFSRRNIEFALKSLTGASGNASSLPGVEALVGWLLDHSDIQVTELSDADTVS
  DEYSDEEVVEDVDDAAYSMSTGAVVTESQTYKKRADFLSNDDYAVYVRENIQVGMMVRCC
  RAYEEVCEGDVGKVIKLDRDGLHDLNVQCDWQQKGGTYWVRYIHVELIGYPPPSSSSHIK
  IGDKVRVKASVTTPKYKWGSVTHQSVGVVKAFSANGKDIIVDFPQQSHWTGLLSEMELVP
  SIHPGVTCDGCQMFPINGSRFKCRNCDDFDFCETCFKTKKHNTRHTFGRINEPGQSAVFC
  GRSGKQLKRCHSSQPGMLLDSWSRMVKSLNVSSSVNQASRLIDGSEPCWQSSGSQGKHWI
  RLEIFPDVLVHRLKMIVDPADSSYMPSLVVVSGGNSLNNLIELKTININPSDTTVPLLND
  CTEYHRYIEIAIKQCRSSGIDCKIHGLILLGRIRAEEEDLAAVPFLASDNEEEEDEKGNS
  GSLIRKKAAGLESAATIRTKVFVWGLNDKDQLGGLKGSKIKVPSFSETLSALNVVQVAGG
  SKSLFAVTVEGKVYACGEATNGRLGLGISSGTVPIPRQITALSSYVVKKVAVHSGGRHAT
  ALTVDGKVFSWGEGDDGKLGHFSRMNCDKPRLIEALKTKRIRDIACGSSHSAALTSSGEL
  YTWGLGEYGRLGHGDNTTQLKPKMVKVLLGHRVIQVACGSRDAQTLALTDEGLVFSWGDG
  DFGKLGRGGSEGCNIPQNIERLNGQGVCQIECGAQFSLALTKSGVVWTWGKGDYFRLGHG
  SDVHVRKPQVVEGLRGKKIVHVAVGALHCLAVTDSGQVYAWGDNDHGQQGNGTTTVNRKP
  TLVQGLEGQKITRVACGSSHSVAWTTVDVATPSVHEPVLFQTARDPLGASYLGVPSDADS
  SAASNKISGASNSKPNRPSLAKILLSLDGNLAKQQALSHILTALQIMYARDAVVGALMPA
  AMIAPVECPSFSSAAPSDASAMASPMNGEECMLAVDIEDRLSPNPWQEKREIVSSEDAVT
  PSAVTPSAPSASARPFIPVTDDLGAASIIAETMTKTKEDVESQNKAAGPEPQALDEFTSL
  LIADDTRVVVDLLKLSVCSRAGDRGRDVLSAVLSGMGTAYPQVADMLLELCVTELEDVAT
  DSQSGRLSSQPVVVESSHPYTDDTSTSGTVKIPGAEGLRVEFDRQCSTERRHDPLTVMDG
  VNRIVSVRSGREWSDWSSELRIPGDELKWKFISDGSVNGWGWRFTVYPIMPAAGPKELLS
  DRCVLSCPSMDLVTCLLDFRLNLASNRSIVPRLAASLAACAQLSALAASHRMWALQRLRK
  LLTTEFGQSININRLLGENDGETRALSFTGSALAALVKGLPEALQRQFEYEDPIVRGGKQ
  LLHSPFFKVLVALACDLELDTLPCCAETHKWAWFRRYCMASRVAVALDKRTPLPRLFLDE
  VAKKIRELMADSENMDVLHESHDIFKREQDEQLVQWMNRRPDDWTLSAGGSGTIYGWGHN
  HRGQLGGIEGAKVKVPTPCEALATLRPVQLIGGEQTLFAVTADGKLYATGYGAGGRLGIG
  GTESVSTPTLLESIQHVFIKKVAVNSGGKHCLALSSEGEVYSWGEAEDGKLGHGNRSPCD
  RPRVIESLRGIEVVDVAAGGAHSACVTAAGDLYTWGKGRYGRLGHSDSEDQLKPKLVEAL
  QGHRVVDIACGSGDAQTLCLTDDDTVWSWGDGDYGKLGRGGSDGCKVPMKIDSLTGLGVV
  KVECGSQFSVALTKSGAVYTWGKGDYHRLGHGSDDHVRRPRQVQGLQGKKVIAIATGSLH
  CVCCTEDGEVYTWGDNDEGQLGDGTTNAIQRPRLVAALQGKKVNRVACGSAHTLAWSTSK
  PASAGKLPAQVPMEYNHLQEIPIIALRNRLLLLHHLSELFCPCIPMFDLEGSLDETGLGP
  SVGFDTLRGILISQGKEAAFRKVVQATMVRDRQHGPVVELNRIQVKRSRSKGGLAGPDGT
  KSVFGQMCAKMSSFGPDSLLLPHRVWKVKFVGESVDDCGGGYSESIAEICEELQNGLTPL
  LIVTPNGRDESGANRDCYLLSPAARAPVHSSMFRFLGVLLGIAIRTGSPLSLNLAEPVWK
  QLAGMSLTIADLSEVDKDFIPGLMYIRDNEATSEEFEAMSLPFTVPSASGQDIQLSSKHT
  HITLDNRAEYVRLAINYRLHEFDEQVAAVREGMARVVPVPLLSLFTGYELETMVCGSPDI
  PLHLLKSVATYKGIEPSASLIQWFWEVMESFSNTERSLFLRFVWGRTRLPRTIADFRGRD
  FVIQVLDKYNPPDHFLPESYTCFFLLKLPRYSCKQVLEEKLKYAIHFCKSIDTDDYARIA
  LTGEPAADDSSDDSDNEDVDSFASDSTQDYLTGH

• Sequence length: 4834

Pathways

KEGG:

Ubiquitin mediated proteolysis

Reactome:

SUMOylation of DNA damage response and repair proteins
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
G2/M DNA damage checkpoint
Antigen processing: Ubiquitination & Proteasome degradation

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
Developmental delay with autism spectrum disorder and gait instability	Pathogenic; Likely pathogenic	rs756221917, rs1224448657, rs2548818940, rs1555415658, rs1596207451, rs575492335, rs1596199137, rs397518474	RCV001839180 RCV002266820 RCV003153178 RCV000626149 RCV000791133 RCV000989279 RCV000991452 RCV000074397	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prader-Willi syndrome	Likely pathogenic; Pathogenic	rs575492335, rs1891259083	RCV005359724 RCV001198553	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	Likely pathogenic	rs2549098724, rs1596199137	RCV003990436 RCV000991452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA, OCCUPATIONAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHY/DEGENERATION AFFECTING THE CEREBELLUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF EYE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
concomitant exotropia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONJUNCTIVITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATION OF MACULA AND POSTERIOR POLE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HERC2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ 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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE CLOSURE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROSACEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBACEOUS GLAND DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromicria	Acromicria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromicric Dysplasia	Acromicric Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	34246199	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	20944644		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	20944644, 23124039, 28456133		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	23065719, 23243086, 27528230		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	25476789, 32571899	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	25918132	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma, Occupational	Asthma	CTD_human_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	GWASCAT_DG	30306274		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	30306274	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25476789	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23065719		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	27539887, 31174203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	27539887, 31174203		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17270363		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28456133, 29995760	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	20176734	Associate	★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	18252222, 18483556, 23548203, 23555287	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19174780, 20176734		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental delay with autism spectrum disorder and gait instability	Developmental Delay With Autism Spectrum Disorder And Gait Instability	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental Disabilities	Developmental disability	Pubtator	25476789, 32571899	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20176734		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	31578829	Associate	★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	35701387	Associate	★☆☆☆☆ Found in Text Mining only
Frontometaphyseal dysplasia	Frontometaphyseal dysplasia	Pubtator	29995760	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	37115922	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23065719, 23243086		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23065719, 30902390		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	33115433	Associate	★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17270363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28456133		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30279242		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	16397024, 23220880		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18252222, 21926416, 24241239, 24392023, 35701387	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	21926416, 24241239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	GWASDB_DG	21926416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	27499155	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38	Mental retardation	ORPHANET_DG	23065719, 23243086		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38	Mental retardation	UNIPROT_DG	23065719		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38	Mental retardation	GENOMICS_ENGLAND_DG	23065719		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	30306274		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	30306274	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25476789	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9787107		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27528230, 30902390		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27179511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	BEFREE	20944644, 23124039		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37239478	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23065719		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21467234	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent hand flapping	Hand Flapping	HPO_DG			★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	BEFREE	30306274		★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	GWASCAT_DG	30306274		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	25125603	Associate	★☆☆☆☆ Found in Text Mining only
Royer Syndrome	Royer Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	20650992	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12872291		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	21712187, 28456133	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	26829030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28456133		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	29352181		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18438405, 20176734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	LHGDN	18438405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	18438405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	27499155, 39245076	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	22561518, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	37239478	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	29995760		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	29995760	Associate	★☆☆☆☆ Found in Text Mining only