ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)

Gene

• Entrez ID: 2068
• Gene name: ERCC excision repair 2, TFIIH core complex helicase subunit
• Gene symbol: ERCC2
• Synonyms (NCBI Gene): COFS2, CXPD, EM9, TFIIH, TTD, TTD1, XPD
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799792	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs41556519	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913016	G>C	Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913017	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs121913018	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913019	T>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913020	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121913021	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913022	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913023	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913024	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913025	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913026	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs138038607	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs144564120	G>C	Likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs151235136	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs199658345	T>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs370454709	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs376556895	C>G,T	Pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs377532898	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs531021258	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs587778271	AA>-	Likely-pathogenic, pathogenic, not-provided	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs746795177	T>C	Likely-pathogenic	Splice acceptor variant
rs750123656	TGA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs758439420	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs762309206	CACT>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, non coding transcript variant
rs769146546	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs773359656	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs774768228	C>A,G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs776705174	->A	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant
rs964247601	C>A,T	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs1233791234	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1555775416	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1555776677	TAC>AA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1568546120	C>A	Pathogenic	Splice acceptor variant
rs1568546252	C>A	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050977	hsa-miR-17-5p	CLASH	23622248
MIRT036466	hsa-miR-1226-3p	CLASH	23622248
MIRT968362	hsa-miR-1226	CLIP-seq
MIRT968363	hsa-miR-1292	CLIP-seq
MIRT968364	hsa-miR-29a	CLIP-seq
MIRT968365	hsa-miR-29b	CLIP-seq
MIRT968366	hsa-miR-29c	CLIP-seq
MIRT968367	hsa-miR-31	CLIP-seq
MIRT968368	hsa-miR-3664-3p	CLIP-seq
MIRT968369	hsa-miR-3918	CLIP-seq
MIRT968370	hsa-miR-4432	CLIP-seq
MIRT968371	hsa-miR-4433	CLIP-seq
MIRT968372	hsa-miR-4459	CLIP-seq
MIRT968373	hsa-miR-4471	CLIP-seq
MIRT968374	hsa-miR-4640-5p	CLIP-seq
MIRT968375	hsa-miR-4645-5p	CLIP-seq
MIRT968376	hsa-miR-4646-5p	CLIP-seq
MIRT968377	hsa-miR-4673	CLIP-seq
MIRT968378	hsa-miR-4685-5p	CLIP-seq
MIRT968379	hsa-miR-4696	CLIP-seq
MIRT968380	hsa-miR-4726-5p	CLIP-seq
MIRT968381	hsa-miR-4733-3p	CLIP-seq
MIRT968382	hsa-miR-4742-5p	CLIP-seq
MIRT968383	hsa-miR-4755-3p	CLIP-seq
MIRT968384	hsa-miR-4768-3p	CLIP-seq
MIRT968385	hsa-miR-510	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Unknown	19934262

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000439	Component	Transcription factor TFIIH core complex	IDA	8692841, 8692842
GO:0000439	Component	Transcription factor TFIIH core complex	IEA
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	7663514, 8652557, 10801852, 11445587, 16669699, 19934020, 20797633, 23585563, 23891004, 25416956, 27193682, 28178521, 35512704
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20797633, 23585563
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IDA	27193682
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0005675	Component	Transcription factor TFIIH holo complex	TAS	7663514
GO:0005737	Component	Cytoplasm	IDA	20797633, 23585563
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	20797633
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	8663148
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IMP	8692841
GO:0006289	Process	Nucleotide-excision repair	NAS	2184031
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	8692842
GO:0006362	Process	Transcription elongation by RNA polymerase I	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006366	Process	Transcription by RNA polymerase II	TAS	8663148
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	8692841
GO:0006915	Process	Apoptotic process	IMP	8675009
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	IMP	17614221
GO:0007059	Process	Chromosome segregation	IEA
GO:0007059	Process	Chromosome segregation	IMP	20797633
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009650	Process	UV protection	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016818	Function	Hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0022405	Process	Hair cycle process	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	11445587
GO:0032289	Process	Central nervous system myelin formation	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035315	Process	Hair cell differentiation	IEA
GO:0035315	Process	Hair cell differentiation	IEA
GO:0035315	Process	Hair cell differentiation	IMP	11335038
GO:0040016	Process	Embryonic cleavage	IEA
GO:0042274	Process	Ribosomal small subunit biogenesis	IEA
GO:0043139	Function	5'-3' DNA helicase activity	IDA	8663148, 11445587
GO:0043139	Function	5'-3' DNA helicase activity	TAS
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0043588	Process	Skin development	IEA
GO:0045951	Process	Positive regulation of mitotic recombination	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048820	Process	Hair follicle maturation	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0060218	Process	Hematopoietic stem cell differentiation	IEA
GO:0070516	Component	CAK-ERCC2 complex	IDA	8692841, 8692842, 11445587
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0071817	Component	MMXD complex	IDA	20797633
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IMP	17088560

Other IDs

• MIM: 126340
• HGNC: 3434
• e!Ensembl: ENSG00000104884

Protein

• UniProt ID: P18074
• Protein name: General transcription and DNA repair factor IIH helicase subunit XPD (TFIIH subunit XPD) (EC 5.6.2.3) (Basic transcription factor 2 80 kDa subunit) (BTF2 p80) (CXPD) (DNA 5'-3' helicase XPD) (DNA excision repair protein ERCC-2) (DNA repair protein complem
• Protein function: ATP-dependent 5'-3' DNA helicase (PubMed:31253769, PubMed:8413672, PubMed:9771713). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro (PubMed:100248
• PDB: 5IVW, 5IY6, 5IY7, 5IY8, 5IY9, 5OF4, 6NMI, 6O9L, 6O9M, 6RO4, 6TUN, 7AD8, 7EGB, 7EGC, 7ENA, 7ENC, 7LBM, 7NVR, 7NVW, 7NVX, 7NVY, 7NVZ, 7NW0, 8BVW, 8BYQ, 8EBS, 8EBT, 8EBU, 8EBV, 8EBW, 8EBX, 8EBY, 8GXQ, 8GXS, 8WAK, 8WAL, 8WAN, 8WAO, 8WAP, 8WAQ, 8WAR, 8WAS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06733	DEAD_2	72 → 256	DEAD_2	Family
  PF06777	HBB	269 → 413	Helical and beta-bridge domain	Domain
  PF13307	Helicase_C_2	524 → 700	Helicase C-terminal domain	Domain

• Sequence:

  MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQ
  RAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPE
  VTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDL
  KALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
  NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARE
  TDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSG
  LAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP
  FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
  FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFT
  SYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA
  RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHA
  AQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
  LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL

• Sequence length: 760

Pathways

KEGG:

Basal transcription factors
Nucleotide excision repair

Reactome:

Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE

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
Cerebrooculofacioskeletal syndrome 2	Likely pathogenic; Pathogenic	rs1476160722, rs1971844960, rs1971844830, rs1360631927, rs778479250, rs774936846, rs2123286013, rs767747355, rs2123229548, rs752510317, rs587778271, rs144564120, rs762141272, rs199643821, rs1971989621, rs1327017125, rs756630156, rs766369300, rs760834687, rs1172840777, rs2514045040, rs2514012707, rs1412068236, rs375284572, rs542268504, rs2514033848, rs121913018, rs2513999168, rs758439420, rs748842373, rs140522180, rs866704383, rs2513999462, rs2123252188, rs2514002045, rs2514013864, rs996182477, rs2514013177, rs1555775708, rs767543274, rs2514043674, rs1971888879, rs773645934, rs2513998244, rs2514006464, rs753505084, rs1266915084, rs2514033986, rs2514000372, rs2514001984, rs2514029012, rs757535186, rs1971857332, rs1040480735, rs2513999160, rs199954405, rs1371008626, rs142184249, rs756781264, rs112910027, rs2514045659, rs2514006203, rs2514048526, rs2514030892, rs762622002, rs2514000214, rs775446858, rs1222622590, rs921743604, rs2513997612, rs769426415, rs2514030085, rs1266051315, rs2513997582, rs769795873, rs749200615, rs758758729, rs2514029566, rs1972523679, rs1050740821, rs947507401, rs2514000268, rs121913020, rs121913021, rs121913024, rs121913026, rs41556519, rs2123229638, rs201127596, rs2513999250, rs2513998080, rs2514033921, rs1599724778, rs1199957431, rs2513999476, rs1971847513, rs2514029053, rs2514035206, rs2514012697, rs2514000020, rs2514000375, rs2123313191, rs2514012713, rs772572683, rs2514023319, rs1185007661, rs2514006425, rs376556895, rs370454709, rs762309206, rs199658345, rs1233791234, rs774768228, rs1555775416, rs750123656, rs746795177, rs151235136, rs377532898, rs1599753508	RCV003471267 RCV003469558 RCV003470852 RCV005023184 RCV003470890 RCV003470891 RCV003470892 RCV003464133 RCV003470902 RCV003471050 RCV002498561 RCV005025191 RCV003471249 RCV003471163 RCV005023282 RCV003471274 RCV003470971 RCV003471277 RCV003471293 RCV005017184 RCV003471309 RCV004572734 RCV003465963 RCV003465960 RCV003465976 RCV004572795 RCV003466016 RCV003148116 RCV003463714 RCV003466048 RCV003459829 RCV004572936 RCV003467910 RCV003467911 RCV003467912 RCV003467913 RCV003460022 RCV003467915 RCV003467916 RCV003460023 RCV003460024 RCV003467917 RCV003467918 RCV003467919 RCV003467920 RCV003467921 RCV003475594 RCV003467922 RCV003467924 RCV003460025 RCV003467926 RCV003460026 RCV003467927 RCV003467928 RCV003467929 RCV003467930 RCV003467931 RCV003467932 RCV003467933 RCV003467934 RCV003467935 RCV003467936 RCV003460027 RCV003467937 RCV003467938 RCV003467939 RCV003460028 RCV003475595 RCV003467940 RCV003467941 RCV003475596 RCV003467942 RCV004574074 RCV005014772 RCV004574112 RCV004574131 RCV005014818 RCV004573218 RCV005014903 RCV004576382 RCV004573341 RCV004573351 RCV004573352 RCV005015078 RCV002490383 RCV003466865 RCV002482884 RCV000171547 RCV000677676 RCV000763053 RCV004573379 RCV003470317 RCV004576375 RCV004576376 RCV004576377 RCV004576378 RCV004576379 RCV004576380 RCV004576381 RCV004576383 RCV004576384 RCV004576385 RCV004576386 RCV004576387 RCV004576388 RCV004576389 RCV004576391 RCV004576392 RCV004576393 RCV004576396 RCV004576397 RCV000763054 RCV003470316 RCV003470390 RCV003470562 RCV003464103 RCV003459471 RCV000677677 RCV003465681 RCV004569485 RCV003461060 RCV004569852 RCV003469289	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs144564120	RCV005889474	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs144564120	RCV005889473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniopharyngioma	Likely pathogenic; Pathogenic	rs750123656	RCV000761139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ERCC2-related disorder	Likely pathogenic; Pathogenic	rs1476160722, rs587778271, rs144564120, rs762141272, rs760834687, rs773645934, rs121913026, rs1233791234, rs1555775416, rs151235136	RCV005635432 RCV004529999 RCV000778547 RCV004733445 RCV004527887 RCV005636939 RCV004532382 RCV005632435 RCV005632622 RCV000784900	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs144564120, rs760834687	RCV005889472 RCV005929958	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs41556519, rs376556895	RCV005638403 RCV005638488	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotrichosis simplex	Pathogenic	rs121913026	RCV001449816	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inflammatory bowel disease 1	Pathogenic	rs758439420	RCV004813082	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Likely pathogenic; Pathogenic	rs587778271	RCV003444202	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic; Likely pathogenic	rs2123296002, rs2514030959, rs866704383, rs377532898	RCV003332935 RCV003332949 RCV003332952 RCV003332278	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs144564120	RCV005889476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified	Likely pathogenic; Pathogenic	rs144564120	RCV000761018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic; Pathogenic	rs121913021	RCV003153304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs144564120	RCV005889475	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs773645934	RCV005927709	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichothiodystrophy	Pathogenic; Likely pathogenic	rs756630156, rs375284572, rs121913026, rs769146546	RCV003987919 RCV004783010 RCV001199920 RCV000785056	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichothiodystrophy 1, photosensitive	Likely pathogenic; Pathogenic	rs1971844960, rs1360631927, rs778479250, rs774936846, rs2123286013, rs121913021, rs752510317, rs587778271, rs144564120, rs199643821, rs1971989621, rs1327017125, rs756630156, rs766369300, rs1172840777, rs2514045040, rs2513994806, rs1412068236, rs2513999168, rs758439420, rs140522180, rs773645934, rs1971857332, rs2514030085, rs769795873, rs758758729, rs2514000268, rs121913018, rs121913020, rs121913024, rs121913026, rs41556519, rs2514033921, rs772572683, rs1185007661, rs376556895, rs370454709, rs762309206, rs199658345, rs1233791234, rs750123656, rs151235136	RCV005023054 RCV005023184 RCV002291301 RCV005014652 RCV005014653 RCV001799560 RCV003992580 RCV002498561 RCV001329855 RCV005016946 RCV005023282 RCV005017081 RCV002292382 RCV005017086 RCV005017184 RCV005017185 RCV002292387 RCV005028233 RCV003148117 RCV002487166 RCV005021903 RCV005030037 RCV005030038 RCV005014772 RCV005014818 RCV005014903 RCV005015078 RCV000018270 RCV000018273 RCV000018275 RCV005016278 RCV000018283 RCV000763053 RCV005023578 RCV005023579 RCV005023580 RCV000763054 RCV005025467 RCV000454337 RCV005018808 RCV005027593 RCV005029410 RCV005029440	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum	Likely pathogenic; Pathogenic	rs1476160722, rs587778271, rs144564120, rs1172840777, rs2514045040, rs748842373, rs140522180, rs1971857332, rs121913018, rs121913019, rs121913024, rs772572683, rs376556895, rs370454709, rs762309206, rs1233791234, rs750123656, rs746795177	RCV002222747 RCV003230409 RCV003114266 RCV002283407 RCV002281878 RCV003236423 RCV003317740 RCV004765844 RCV003155035 RCV005887538 RCV002468972 RCV004587649 RCV001195426 RCV002256206 RCV003155181 RCV004525954 RCV003226381 RCV004800582	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum, group D	Likely pathogenic; Pathogenic	rs1971844960, rs754967981, rs1360631927, rs774936846, rs2123286013, rs767747355, rs121913021, rs587778271, rs144564120, rs199643821, rs1971989621, rs1327017125, rs756630156, rs766369300, rs2123288444, rs1172840777, rs2514045040, rs1412068236, rs1399608577, rs2513999168, rs758439420, rs140522180, rs773645934, rs1971857332, rs2514030085, rs769795873, rs758758729, rs2514000268, rs121913017, rs121913018, rs121913019, rs121913020, rs121913024, rs2123229159, rs121913025, rs121913026, rs41556519, rs201127596, rs2514033921, rs772572683, rs1185007661, rs376556895, rs370454709, rs762309206, rs199658345, rs1233791234, rs750123656, rs964247601, rs1568546252, rs1568546120, rs746795177, rs151235136	RCV001329854 RCV001507019 RCV003994304 RCV005014652 RCV005014653 RCV002266015 RCV001799560 RCV000778548 RCV000990227 RCV005016946 RCV005023282 RCV005017081 RCV005014727 RCV005017086 RCV002249940 RCV005017184 RCV005017185 RCV005028233 RCV003142435 RCV003148115 RCV000248679 RCV005021903 RCV005030037 RCV005030038 RCV005014772 RCV005014818 RCV005014903 RCV005015078 RCV000018269 RCV002490383 RCV000018272 RCV000018274 RCV002482884 RCV000018278 RCV000018281 RCV000018282 RCV000763052 RCV000018284 RCV000260066 RCV005023578 RCV005023579 RCV005023580 RCV000312948 RCV005025467 RCV000454224 RCV005018808 RCV005027593 RCV005029410 RCV000770817 RCV000770818 RCV000770816 RCV000778549 RCV005029440	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRO-OCULO-FACIO-SKELETAL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrooculofacioskeletal syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COFS SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF SKIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum, agenesis of	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	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
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ketotic hypoglycemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ 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	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCCUPATIONAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SENILE CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM GROUP D	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group C	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME	Ablepharon macrostomia syndrome	BEFREE	31835126		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	19052983, 24486506		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18349268, 21463130, 23207728		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	16150943, 24284041		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12579497, 16571649, 18478337		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17705814, 20232359		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	15878910, 16571649, 18478337, 24234258		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	15896456, 20003391, 23700156, 29173771		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16542436, 17164360		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16542436, 17164360, 17419091		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	16284370		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	19736055, 23619945, 24258710, 30279407		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	23202958		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33630843	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	25881102, 34967559	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	34284736	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27064873		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	18616887, 30390177		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25400036		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	7736449		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	15878910		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	15776433		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11304692, 12376500, 14652287, 16311243, 16537713, 16652373, 17438703, 17693188, 17728339, 18349268, 18365755, 19242824, 19492231, 21426550, 21647780, 21864546, 24347488, 24504678, 24535265, 25089939		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	17438703, 17693188, 18365755		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	24121791, 27111033		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	23232694	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	36103153	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	23098477		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23661361	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	26264164, 9234918		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12243508, 14757194, 15090466, 15598760, 15598761, 15886521, 16000577, 16002061, 16030124, 16280050, 16319991, 16399771, 16685590, 16823510, 17932351, 18196582, 18415712, 18454848, 18534129, 18701435, 18752184, 18767034, 18977234, 19466538, 19615095, 20127278, 20379847, 21643959, 21751184, 21793320, 22579466, 24933103, 25537147, 26985954, 27504877, 27768589, 29544444, 30728902, 7491121		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16280050, 16672066, 17683639, 18415712, 18454848, 18534129, 18701435, 18752184, 19051060, 19615095, 20508946, 21700777, 21751184, 25117088, 26946191, 26985954, 27768589, 29209986, 29544444, 35834270, 36594475	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21751184, 27768589	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	24761895		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19846926, 20564624, 26130668, 26295053, 30429230	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16542436		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	40184085	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	15729710	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23167354, 23534753, 24938468, 25113251, 25337275, 26031757, 26967386, 30409962, 32277685	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33993564	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11304692, 12376500, 14652287, 16311243, 16537713, 16652373, 17693188, 17728339, 18349268, 18365755, 19242824, 19492231, 21426550, 21647780, 21864546, 24347488, 24504678, 24535265, 25089939		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19444904, 26898429		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11245433, 11285194, 11872635, 11888908, 12399122, 12552590, 12692111, 12740916, 12844488, 14757194, 15199549, 15333465, 15364127, 15564288, 15615908, 15837542, 15849729, 15896456, 16054657, 16835333, 16875933, 17299578, 17498557, 17504986, 17531525, 17705814, 17913280, 17952468, 18494946, 18709642, 18990748, 19116388, 19406934, 20514470, 20627704, 20651612, 21195504, 21601580, 21614524, 21739480, 21864546, 22525558, 22608006, 23673479, 24083550, 24140460, 24368330, 24556168, 24716924, 25300687, 27819744, 29110844, 31195348, 31337555, 31446980, 31584889		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	23108145		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18081788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18711149	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18711149, 26682510, 37996508	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	35662501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19554020, 22760492, 23335232, 33827099	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29362353, 33827099	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11375896, 12433725, 12645871, 15776433, 15936590, 25209577, 9950243		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16677755, 18454848, 23277402, 23621265, 27504877, 27863412, 28676967, 9234918		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31924810	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	21245954, 24868140	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25873778, 25951169		★☆☆☆☆ 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
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	BEFREE	11443545, 23800062, 25716912		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	ORPHANET_DG	11443545		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal syndrome	Pubtator	23161009	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebrooculofacioskeletal Syndrome 2	Cerebrooculofacioskeletal Syndrome	UNIPROT_DG	11443545		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 2	Cerebrooculofacioskeletal Syndrome	GENOMICS_ENGLAND_DG	9012405		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 2	Cerebrooculofacioskeletal Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrooculofacioskeletal Syndrome 2	Cerebrooculofacioskeletal Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebrovascular accident	Stroke	LHGDN	17630376		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22277767		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26130668		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervix carcinoma	Cervix carcinoma	BEFREE	19096231, 22760492, 23435956		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	16150943		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27607585		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29271183	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea	Chorea	Pubtator	38040034	Stimulate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19484764, 22739018, 7736449		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	28114408		★☆☆☆☆ Found in Text Mining only
Clastothrix	Clastothrix	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10699759		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	10064601	Stimulate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	10644710, 10698956, 10786832, 11443545, 11710928, 15982307, 16135823, 16246722, 17088560, 21965540, 23161009, 23267107, 23935105, 24781187, 25268380, 27004399, 27396511, 28902838, 34096589, 36308430, 39976384, 7963680, 8754844, 9012405, 9238033, 9278484, 9422774	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10660593, 10699759, 11710928, 12116233, 14726016, 16246722, 16646069, 16904611, 17466625, 18077223, 18927284, 19008953, 21571596, 21592869, 21965540, 23622385, 25431422, 25500814, 26149386, 31110295, 9238033, 9278484		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	LHGDN	18578568		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	12208738, 24781187		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	16492920		★☆☆☆☆ Found in Text Mining only
COFS syndrome	COFS Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	38040034	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21958378, 22994779, 23669291, 29568775		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15213713, 15679883, 15914278, 17191090, 17363013, 18267032, 19029193, 19561388, 20466620, 20649433, 21278243, 21559836, 22363067, 22994779, 23317245, 23894404, 24531312, 24687779, 24833529, 25391773, 25835182, 27069143, 28088319, 29568775, 29664240, 30429230		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18267032		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11751380, 15679883, 18085999, 18267032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15679883, 18267032, 18797464, 20078613, 20559012, 22994779, 23317245, 23894404, 24157118, 24531312, 25391773, 25835182, 30429230, 31395900, 31756062, 31988591, 32277685, 32397974	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18267032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29568775	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	11737070		★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	14729591, 15199549, 15470755, 15471094, 16997330, 17019047, 17050553, 19484764, 21858514		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exfoliative erythroderma	Congenital exfoliative erythroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18711149, 26682510		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18043991, 27566080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	18043991, 23368530, 27566080		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18043991, 27566080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical cataract	Cortical cataract	BEFREE	17466625, 24868140, 26149386		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	16492920		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	14735199, 17164380, 21390047, 23494240, 25169498, 25537294		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	26475344	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	34284736	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	29451896, 39976384, 7963680	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34284736	Associate	★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	16646069		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	17050553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	BEFREE	9671271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	26996949, 39976384	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31064989		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27668351, 30326148		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27668351, 30326148		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29886452	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19736055, 23619945, 24258710, 30279407		★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	12185533		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10328528		★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	18752184		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	18752184		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	23935105	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	38040034	Stimulate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	28388903		★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22271435, 22544315, 26349749		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	30275440	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22544315, 25113251, 26349749	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31373346		★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23621265		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	18349268, 21490450, 24234258, 30847299		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	18349268, 21490450, 24234258, 30847299		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19620936	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20128036, 32377720	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20128036, 24390613	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	32397974	Associate	★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	19760636		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18386788		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	20137776, 29603871		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	20137776	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	20137776		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	20651370		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	21283657		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	20564624, 21283657	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	15878910		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	34967559	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	40377615	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27460091	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21617750	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	21617750	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	21617750	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19318434	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19318434	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24325908		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24325908		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11319176, 16212814, 17151930, 22938460, 24254311, 24500421, 24763305, 24782032, 24969862, 25867436, 26505408, 26843108, 27323065, 28514298, 8583241		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16212814, 22938460, 23534771, 24634177, 24782032, 27323065, 8583241	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23232694	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17466625, 26149386		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	11133811, 16030112, 20429839, 20571908, 20720310, 21945240, 22179996, 22536360, 24020925, 24443924, 25916209, 26659720		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22081374, 24487794, 25916209, 28686330, 32546699	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	26918827	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	24252196	Stimulate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	34627174	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	17410042	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	21999595	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	21999595		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18454848, 27504877, 32481313	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	17009404		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	29664240		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	34627174	Stimulate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	26314858	Associate	★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	8981949		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	19280628	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	12749816, 17050553		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	CTD_human_DG	17050553		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	7963680	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29886452	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of mandible relative to maxilla	Hypoplasia of mandible relative to maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	33711971	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	33670118, 39976384, 7629061	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	24189466		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	11737070	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired social reciprocity	Impaired social reciprocity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	7629061		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	7629061, 7963680	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29271183		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36418822	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	25310768	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	26617899	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	35662501	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	19052983		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22047709, 25311495		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25113251	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15339847, 16150943, 17023576, 17197435, 20141440, 21951951, 24284041, 26779634, 31647372	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12393447		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16150943, 20232390, 21951951, 23207728, 23397959, 24284041, 25311495, 26779634, 31647372		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	17410042, 21047201		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	17290401		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	17290401, 24330540		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	16324877, 18442012, 24330540		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16172101, 21264535, 23044807, 23167354, 23534753, 24938468, 26722489, 26967386, 27306318, 28927037, 30627419		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21264535		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	11891028, 11960912, 12151350, 12692111, 12740916, 16835333, 17498557, 17913280, 18347182		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12552590, 15564288, 20514470		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17705814, 18709642, 20514470, 25113251, 26159902, 27183913, 27819744, 32277685, 32711437, 34284736, 37006075	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18709642	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27492607	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19055600		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30844146	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19736055, 22047709		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	16492913		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19736055, 23619945, 25422223, 25962431, 28489582		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	19736055, 25422223, 25962431, 28489582		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	29664240		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	11133811, 16030112, 20429839, 20571908, 20720310, 21945240, 22179996, 22536360, 24020925, 24443924, 25916209, 26659720		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21765044		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12243508, 14757194, 15090466, 15598760, 15598761, 15886521, 16000577, 16002061, 16030124, 16280050, 16319991, 16399771, 16685590, 16823510, 17932351, 18196582, 18415712, 18454848, 18534129, 18701435, 18767034, 18977234, 19466538, 19615095, 20127278, 20379847, 21643959, 21751184, 21793320, 22579466, 24933103, 25537147, 26985954, 27504877, 27768589, 29544444		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22271435, 22544315, 26349749		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	18349268, 21490450, 24234258, 30847299		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	21283657		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	19444904, 26617899, 26898429		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23044807		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11245433, 11285194, 11872635, 11888908, 12399122, 12552590, 12692111, 12740916, 12844488, 14757194, 15199549, 15333465, 15364127, 15564288, 15615908, 15837542, 15849729, 15896456, 16054657, 16707649, 16835333, 16875933, 17299578, 17498557, 17504986, 17531525, 17705814, 17913280, 17952468, 18494946, 18709642, 18990748, 19116388, 19406934, 20104979, 20514470, 20627704, 20651612, 21195504, 21601580, 21614524, 21739480, 21864546, 22525558, 22608006, 23673479, 24083550, 24140460, 24368330, 24556168, 24716924, 25300687, 27819744, 29110844, 31195348, 31337555, 31446980, 31584889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16324877, 18442012, 24330540		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	24761895		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16677755, 18454848, 23277402, 27504877, 27863412, 28676967		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16458430, 18544627, 23390054, 26617894, 27051038, 28223548, 29260835, 31393355		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10734072, 16638864, 17695467, 19914098, 20070155, 20074932, 22116596, 22890093, 23028604, 23771356, 24289586, 24933002, 27974699, 28797198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17695467		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	10416615, 10753184, 11606376, 11710928, 15598761, 15941969, 18470933, 18817897, 19934020, 25169498, 26295053, 28489582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	17050553		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	17009404		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18641418, 20817763, 20842450, 20981556, 23680703, 24023723, 24590266, 25542228, 26097599, 26191265, 26681216, 26782397, 26823845, 27173253, 28489582, 30225185, 30581498		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	15885892		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16214924		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11304692, 12376500, 14652287, 16311243, 16537713, 16652373, 17693188, 17728339, 18349268, 18365755, 19242824, 19492231, 21426550, 21647780, 21864546, 24347488, 24504678, 24535265, 25089939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	24121791, 27111033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11133811, 11239393, 11765063, 12124811, 12399122, 12435843, 14757194, 15221960, 15298945, 15381366, 15523694, 15678607, 15679883, 15754315, 16030124, 16038584, 16054657, 16054878, 16685590, 16707649, 16904611, 17172862, 17290401, 17604576, 17695467, 18075460, 18349268, 18588689, 18616887, 18641418, 19109787, 19116388, 21390502, 21571596, 21592869, 21793320, 21945240, 22496165, 22544315, 23673479, 24362511, 24390613, 24782032, 25089939, 25096233, 25113251, 25209371, 25274682, 25431422, 26649138, 26682510, 27111033, 27504877, 28489582, 28676967, 28902838, 28927037, 29140456, 29209986		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	30672443		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	15885892		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22994779, 29568775		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	8055625		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15090466, 15886521, 16319991, 18415712, 18454848, 18459458, 18534129		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18534129		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	27607585, 28376765	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	14735199		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11238179, 14735199, 15941969, 16258177, 16685590, 17164380, 17210993, 19706646, 21390047, 23436679, 23494240, 25169498, 25537294, 29768284, 30651597		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	14735199, 16258177, 21390047, 23407396, 25113251	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	16258177, 18575735		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	14735199, 21390047, 23494240	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15824172		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	23534771	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	7629061		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	28422153	Associate	★☆☆☆☆ Found in Text Mining only
Metachromatic leukodystrophy variant	Metachromatic Leukodystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia T/myeloid	Mixed Phenotype Leukemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	31450912	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	31450912, 36149156	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22183071		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22183071	Associate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	25605938	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	10673506	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25154760, 26482462, 28472728		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28472728	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24955348, 25311495, 31286393		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27838878		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24761895, 29121049, 29912899		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24761895, 26086338, 29121049	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	24761895	Associate	★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	26918827	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10416615, 15217961, 15523694, 16052427, 17151930, 18085999, 18641418, 19902366, 20070155, 20351547, 22760492, 22966016, 23549037, 23680703, 23894404, 25647444, 26649138, 26659720, 26682510, 28351583, 28927037, 29065309, 29544444, 30194171, 30290956, 30581498, 30662565, 30847299, 8583241		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	30161024		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	27396511	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24252196	Stimulate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34627174	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23622385		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	30089098	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24252196, 36308430	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	16649224, 17410042, 19470925, 34967559	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	17410042, 21047201		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	29121049, 29912899		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11285194, 15173214, 16195237, 20104979, 20143185, 20188432, 20351547, 21075476, 21129812, 21627375, 21766907, 21805378, 22052224, 22551904, 22608006, 22938424, 23534713, 24446315, 24933103, 25596702, 26001533, 26159902, 27465648, 28520216		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15886521		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	29264886		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	11443545	Associate	★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	15834925		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	LHGDN	15834925		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	15834925	Associate	★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	28388903		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19434073, 21826087, 23098477, 23317281, 25023406, 25824708, 26345951, 26400354, 26436406, 26505449, 27051024, 28388903, 28474168, 28977987, 29980176, 30402838, 30544402		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21826087	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21826087, 23098477, 23317281, 25824708, 26400354, 26436406, 29980176	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	36103153	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Dysgenesis 2	Ovarian dysgenesis	Pubtator	36196709	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16677755, 18454848, 23277402, 27504877, 27863412, 28676967		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18081788		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16677755, 18081788, 24615029, 25113251, 25881102, 27449101, 28122348, 29669843, 39699591	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29669843	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16458430, 18544627, 23390054, 26617894, 27051038, 28223548, 29260835, 31393355		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	22855135		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16458430, 18559563		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16458430, 18544627, 26617894, 27051038	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia/paraparesis	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	38040034	Associate	★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome Type 2	Pena Shokeir syndrome	ORPHANET_DG	11443545		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	20192866		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27064873		★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28610405		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	22496165		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	18349268, 21463130, 23207728		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	21571596, 28902838		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	16904611, 17172862		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10734072, 16638864, 17695467, 19914098, 20070155, 20074932, 22116596, 22890093, 23028604, 23771356, 24289586, 24933002, 27974699, 28797198		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17695467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17695467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17695467, 23028604, 23936089, 24289586, 27974699, 28206966, 32277685	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudoaphakia	Cataract	BEFREE	25873778		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19029193, 20229274, 25684513		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18711149		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36818471	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	31014139		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25494482		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	16646069, 27554610		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	18085999, 23174912, 26261061		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23928520		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	15298945, 17687452, 25169498		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	17470448	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin lesion	Skin Lesion	BEFREE	12749816, 17065198, 19834688, 27685703		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	11710928, 15009740, 17687452, 23232694, 26295053, 8194528, 9192652, 9427533	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	LHGDN	15298945, 17687452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	17050553		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	17687452	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	9427533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Central	Sleep Apnea	BEFREE	24781187		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37006075, 39735668	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 23	Spastic paraplegia	Pubtator	23232694	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	15887293		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	8981949		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19051060		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12124811, 12579497, 15381366, 17479411, 17556064, 19096231		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12399122, 15333465, 15914211, 19615095, 21676483, 25812040, 26001533, 26742000, 30672443		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	17687452		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12124811, 15381366, 16571649, 17479411, 17556064, 20128036, 20979431, 21553048, 24234258, 24390613, 25209371, 26054330, 27246611		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19615095, 21890746, 26918827, 33714009, 37798436	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22081374	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	23335232		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11133811, 12110342, 20571908, 21419115, 21890746, 21945240, 26918827, 29065309		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31828418		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21999595		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	24189466		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18641418, 20817763, 20842450, 20981556, 23680703, 24023723, 24590266, 25542228, 26097599, 26191265, 26681216, 26782397, 26823845, 27173253, 30225185, 30581498		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17009404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	17009404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	17009404, 24023723, 25542228, 26097599, 26191265, 26823845, 27340861, 30225185, 31077069	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	23619945		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	22496165		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	25881102, 32397974, 34967559	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16214924		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16214924		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy	Trichothiodystrophy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	10064601	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	10332046, 10416615, 10660593, 10667598, 10699759, 11062469, 11709541, 11710928, 11734544, 11737070, 12116233, 12194834, 12393803, 12820975, 12948486, 1372108, 14726016, 15009740, 15148554, 15590337, 16904611, 18077223, 18470933, 18579452, 18676829, 18817897, 19008953, 19085937, 19172752, 19808800, 19931493, 21571596, 21592869, 21730288, 22234153, 22617342, 23221806, 23232694, 23622385, 23800062, 24986372, 25016283, 25340339, 25431422, 25605938, 25620205, 30068551, 30580289, 31282071, 31803976, 7510365, 7563073, 7585650, 7613092, 7629061, 7920640, 7963680, 8055625, 8571952, 8824772, 8968100, 9012405, 9195225, 9426063, 9426065, 9651581, 9758621, 9771713, 9771945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	11443545, 11737070, 15009740, 16135823, 18470933, 18579452, 22234153, 22617342, 23161009, 23232694, 23382212, 25268380, 25290684, 25605938, 25620205, 26340423, 26996949, 28902838, 30580289, 33711971, 35615778, 36103153, 36308430, 39976384, 7629061, 7963680, 8571952, 9012405, 9192652, 9238033, 9422774, 9758621	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	ORPHANET_DG	12393803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24402573, 30136158		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24402573	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24402573, 27527855	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	16465622, 17898541, 19414392, 19846926, 19908385, 20514470, 21426550, 26649138, 33208343, 33849962, 36818471, 37870965, 37996508, 39192988, 39523403	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	22110223, 25018058, 25096233		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22760492	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26130668	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	20651370		★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	27004399		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	15834925		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	16288211	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10064601, 10416615, 10467415, 10660593, 10667598, 10699759, 11239393, 11701636, 11734544, 11955452, 12116233, 12393803, 12427537, 12820975, 1372108, 14726016, 15650764, 16030124, 16167068, 16646069, 16875933, 16880786, 16904611, 16947863, 17088560, 17172862, 18077223, 18470933, 18579452, 18637129, 18676829, 18817897, 18927284, 19008953, 19934020, 20137776, 21157430, 21390502, 21571596, 21592869, 22234153, 22617342, 23161009, 23232694, 23276657, 23622385, 23623389, 23928520, 23935105, 25431422, 25500814, 25605938, 25620205, 25951169, 29284765, 29616226, 31455402, 7563073, 7585650, 7963680, 7980491, 8055625, 8590735, 8824772, 9012405, 9101292, 9278484, 9426063, 9557707		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	10064601	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	10644710, 10698956, 11239393, 11710928, 15009740, 15494306, 15982307, 16030124, 16135823, 17088560, 1729695, 17466625, 17466626, 18470933, 18579452, 18637129, 18927284, 20137776, 20208140, 21157430, 22234153, 22617342, 23161009, 23232694, 23267107, 23623389, 23935105, 25268380, 26340423, 26996949, 27396511, 28902838, 33464383, 35977011, 36308430, 7629061, 7963680, 8194528, 8675009, 9238033, 9278484, 9422774	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	LHGDN	11751380, 12820975, 17009404, 18578568, 18637129		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum	Xeroderma Pigmentosum	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	CLINVAR_DG	7920640		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	9557707	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum and Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	BEFREE	16167068, 23370536, 23800062, 25500814, 27004399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum Complementation Group B	Xeroderma pigmentosum	Pubtator	11239393	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group D	Xeroderma pigmentosum	Pubtator	11443545, 15009740, 15982307, 1729695, 23267107, 23352696, 8571952, 9192652	Associate	★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	15878910, 18630471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	UNIPROT_DG	10447254, 11709541, 15494306, 7585650, 7825573, 7849702, 9101292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	11242112, 12110342, 12116233, 14735199, 15009740, 15459223, 16195237, 16492920, 16707649, 1729695, 18637129, 19096231, 20797633, 22183071, 23028453, 23202958, 23232694, 23390054, 23771356, 24443924, 24486506, 24833529, 24845027, 24933103, 25113251, 25494482, 25873778, 26993158, 3757174, 7491121, 7510365, 7563073, 7585650, 7663514, 7849702, 8033104, 8590735, 8824772, 9426063, 9427533, 9771713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	CLINVAR_DG	11709541, 11710928, 12820975, 18637129, 20633800, 22826098, 23800062, 24252196, 26884178, 27004399, 27504877, 9238033		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	CLINGEN_DG	11709541, 11955452, 16904611, 22826098, 24105368, 7585650, 7849702, 9101292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	GENOMICS_ENGLAND_DG	28376890, 601675, 9012405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	12208738, 15333465, 17299578, 20651370, 9753735		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	BEFREE	29959982, 8663148		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	26149386		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations