LAMC2 (laminin subunit gamma 2)

Gene

• Entrez ID: 3918
• Gene name: Laminin subunit gamma 2
• Gene symbol: LAMC2
• Synonyms (NCBI Gene): B2T, BM600, CSF, EBR2, EBR2A, JEB3A, JEB3B, LAMB2T, LAMNB2
• Chromosome: 1
• Chromosome location: 1q25.3
• Summary: Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, n

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356683	C>T	Pathogenic	Coding sequence variant, stop gained
rs118203899	C>G,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs118203900	C>A	Pathogenic	Stop gained, coding sequence variant
rs118203901	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs141812464	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146325169	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147889360	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149195906	G>A	Likely-pathogenic	Splice acceptor variant
rs151190720	C>G,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs201307156	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs745512079	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs753268823	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs757617349	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs759509443	G>A	Likely-pathogenic	Splice donor variant
rs771613805	A>G	Likely-pathogenic	Splice acceptor variant
rs774080932	G>A,C	Likely-pathogenic	Splice acceptor variant
rs776142807	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs778012079	TTTCAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886045625	A>G	Uncertain-significance, likely-pathogenic	Initiator codon variant, missense variant
rs1043996591	G>T	Likely-pathogenic	Splice donor variant
rs1057516218	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516383	CTGC>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant
rs1057516410	G>C	Likely-pathogenic	Splice donor variant
rs1057516444	->AA	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516473	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516487	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516569	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516727	CA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516806	GACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516935	TC>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517159	->G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057517353	->ATGGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1217053724	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1479808203	G>C,T	Likely-pathogenic	Initiator codon variant, missense variant
rs1553262199	T>C	Pathogenic	Initiator codon variant, missense variant
rs1553264644	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553265770	A>C	Likely-pathogenic	Splice acceptor variant
rs1553265794	T>A	Likely-pathogenic	Splice donor variant
rs1553265902	A>G	Likely-pathogenic	Splice acceptor variant
rs1553266052	G>A	Likely-pathogenic	Splice donor variant
rs1553266260	A>T	Likely-pathogenic	Splice acceptor variant
rs1553266433	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553266537	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1553266671	T>C,G	Likely-pathogenic	Splice donor variant
rs1553266871	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553267007	G>A	Likely-pathogenic	Splice donor variant
rs1553267060	T>G	Likely-pathogenic	Splice donor variant
rs1553267345	->TAGCCCGG	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs1553267356	G>C	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1553267499	G>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553267554	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553267638	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553267679	CA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553267870	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553267882	GAAGCTTTCCCGAGCCAAGA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553267885	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1558088792	G>A	Pathogenic	Splice acceptor variant
rs1558092158	G>T	Likely-pathogenic	Splice donor variant
rs1558092501	G>A	Pathogenic	Splice acceptor variant
rs1558095794	CAGAACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571530029	TCCCTGTCATA>AACCGC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1571535301	C>T	Pathogenic	Coding sequence variant, stop gained
rs1571538391	AGCCCGGACGGTGCTGTGGT>G	Likely-pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002944	hsa-miR-199b-5p	Luciferase reporter assay	15131085
MIRT019261	hsa-miR-148b-3p	Microarray	17612493
MIRT025668	hsa-miR-7-5p	Microarray	19073608
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437368	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437369	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT437370	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR, Western blot	24091622
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT438307	hsa-miR-146a-5p	In situ hybridization, Weastern blot, Luciferase reporter assay/qRT-PCR	25214035
MIRT732502	hsa-miR-5580-3p	Microarray	32597160
MIRT1103407	hsa-miR-1193	CLIP-seq
MIRT1103408	hsa-miR-1224-3p	CLIP-seq
MIRT1103409	hsa-miR-1226	CLIP-seq
MIRT1103410	hsa-miR-1260	CLIP-seq
MIRT1103411	hsa-miR-1260b	CLIP-seq
MIRT1103412	hsa-miR-128	CLIP-seq
MIRT1103413	hsa-miR-1280	CLIP-seq
MIRT1103414	hsa-miR-134	CLIP-seq
MIRT1103415	hsa-miR-1827	CLIP-seq
MIRT1103416	hsa-miR-192	CLIP-seq
MIRT1103417	hsa-miR-193a-3p	CLIP-seq
MIRT1103418	hsa-miR-193b	CLIP-seq
MIRT1103419	hsa-miR-215	CLIP-seq
MIRT1103420	hsa-miR-2467-3p	CLIP-seq
MIRT1103421	hsa-miR-29a	CLIP-seq
MIRT1103422	hsa-miR-29b	CLIP-seq
MIRT1103423	hsa-miR-29c	CLIP-seq
MIRT1103424	hsa-miR-3065-3p	CLIP-seq
MIRT1103425	hsa-miR-3118	CLIP-seq
MIRT1103426	hsa-miR-3134	CLIP-seq
MIRT1103427	hsa-miR-3164	CLIP-seq
MIRT1103428	hsa-miR-3202	CLIP-seq
MIRT1103429	hsa-miR-331-3p	CLIP-seq
MIRT1103430	hsa-miR-338-5p	CLIP-seq
MIRT1103431	hsa-miR-3661	CLIP-seq
MIRT1103432	hsa-miR-3678-3p	CLIP-seq
MIRT1103433	hsa-miR-3688-3p	CLIP-seq
MIRT1103434	hsa-miR-3714	CLIP-seq
MIRT1103435	hsa-miR-3978	CLIP-seq
MIRT1103436	hsa-miR-4302	CLIP-seq
MIRT1103437	hsa-miR-4327	CLIP-seq
MIRT1103438	hsa-miR-4426	CLIP-seq
MIRT1103439	hsa-miR-4517	CLIP-seq
MIRT1103440	hsa-miR-451b	CLIP-seq
MIRT1103441	hsa-miR-4533	CLIP-seq
MIRT1103442	hsa-miR-4647	CLIP-seq
MIRT1103443	hsa-miR-4662b	CLIP-seq
MIRT1103444	hsa-miR-4701-5p	CLIP-seq
MIRT1103445	hsa-miR-4708-3p	CLIP-seq
MIRT1103446	hsa-miR-539	CLIP-seq
MIRT1103447	hsa-miR-545	CLIP-seq
MIRT1103448	hsa-miR-548b-3p	CLIP-seq
MIRT1103449	hsa-miR-580	CLIP-seq
MIRT1103450	hsa-miR-588	CLIP-seq
MIRT1103451	hsa-miR-631	CLIP-seq
MIRT1103452	hsa-miR-660	CLIP-seq
MIRT1103453	hsa-miR-767-5p	CLIP-seq
MIRT1103454	hsa-miR-892b	CLIP-seq
MIRT1103455	hsa-miR-129-5p	CLIP-seq
MIRT1103456	hsa-miR-3194-3p	CLIP-seq
MIRT1103457	hsa-miR-3672	CLIP-seq
MIRT1103458	hsa-miR-431	CLIP-seq
MIRT1103459	hsa-miR-4438	CLIP-seq
MIRT1103460	hsa-miR-5095	CLIP-seq
MIRT1103461	hsa-miR-640	CLIP-seq
MIRT2028260	hsa-miR-1228	CLIP-seq
MIRT2028261	hsa-miR-1229	CLIP-seq
MIRT2028262	hsa-miR-1825	CLIP-seq
MIRT2028263	hsa-miR-3130-5p	CLIP-seq
MIRT2028264	hsa-miR-342-3p	CLIP-seq
MIRT2028265	hsa-miR-4482	CLIP-seq
MIRT2028266	hsa-miR-4686	CLIP-seq
MIRT2028267	hsa-miR-4772-5p	CLIP-seq
MIRT2028268	hsa-miR-888	CLIP-seq
MIRT2259398	hsa-miR-1208	CLIP-seq
MIRT2259399	hsa-miR-1281	CLIP-seq
MIRT2259400	hsa-miR-1343	CLIP-seq
MIRT2259401	hsa-miR-185	CLIP-seq
MIRT2259402	hsa-miR-2278	CLIP-seq
MIRT2259403	hsa-miR-2355-5p	CLIP-seq
MIRT2259404	hsa-miR-24	CLIP-seq
MIRT2259405	hsa-miR-3135b	CLIP-seq
MIRT2259406	hsa-miR-3150a-5p	CLIP-seq
MIRT2259407	hsa-miR-3150b-5p	CLIP-seq
MIRT2259408	hsa-miR-3652	CLIP-seq
MIRT2259409	hsa-miR-4284	CLIP-seq
MIRT2259410	hsa-miR-4306	CLIP-seq
MIRT2259411	hsa-miR-4430	CLIP-seq
MIRT2259412	hsa-miR-4519	CLIP-seq
MIRT2259413	hsa-miR-4644	CLIP-seq
MIRT2259414	hsa-miR-498	CLIP-seq
MIRT2028268	hsa-miR-888	CLIP-seq
MIRT2559748	hsa-miR-4267	CLIP-seq
MIRT2559749	hsa-miR-4735-5p	CLIP-seq
MIRT2559750	hsa-miR-4775	CLIP-seq
MIRT2559751	hsa-miR-590-3p	CLIP-seq
MIRT2683738	hsa-miR-1256	CLIP-seq
MIRT2683739	hsa-miR-3688-5p	CLIP-seq
MIRT2683740	hsa-miR-4652-3p	CLIP-seq
MIRT2683741	hsa-miR-4659a-5p	CLIP-seq
MIRT2683742	hsa-miR-4659b-5p	CLIP-seq
MIRT2683743	hsa-miR-4776-3p	CLIP-seq
MIRT2683744	hsa-miR-579	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZEB1	Unknown	20729552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28675934
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005607	Component	Laminin-2 complex	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	24091622
GO:0008544	Process	Epidermis development	TAS	8012394
GO:0030335	Process	Positive regulation of cell migration	IMP	24091622
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 150292
• HGNC: 6493
• e!Ensembl: ENSG00000058085

Protein

• UniProt ID: Q13753
• Protein name: Laminin subunit gamma-2 (Cell-scattering factor 140 kDa subunit) (CSF 140 kDa subunit) (Epiligrin subunit gamma) (Kalinin subunit gamma) (Kalinin/nicein/epiligrin 100 kDa subunit) (Ladsin 140 kDa subunit) (Laminin B2t chain) (Laminin-5 subunit gamma) (Lar
• Protein function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts c
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00053	Laminin_EGF	28 → 81	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	84 → 130	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	139 → 184	Laminin EGF domain	Domain
  PF00052	Laminin_B	250 → 380	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	376 → 413	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	462 → 514	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	517 → 570	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	573 → 617	Laminin EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: The large variant is expressed only in specific epithelial cells of embryonic and neonatal tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney, but not in epithelia except for
• Sequence:

  MPALWLGCCLCFSLLLPAARATSRREVCDCNGKSRQCIFDRELHRQTGNGFRCLNCNDNT
  DGIHCEKCKNGFYRHRERDRCLPCNCNSKGSLSARCDNSGRCSCKPGVTGARCDRCLPGF
  HMLTDAGCTQDQRLLDSKCDCDPAGIAGPCDAGRCVCKPAVTGERCDRCRSGYYNLDGGN
  PEGCTQCFCYGHSASCRSSAEYSVHKITSTFHQDVDGWKAVQRNGSPAKLQWSQRHQDVF
  SSAQRLDPVYFVAPAKFLGNQQVSYGQSLSFDYRVDRGGRHPSAHDVILEGAGLRITAPL
  MPLGKTLPCGLTKTYTFRLNEHPSNNWSPQLSYFEYRRLLRNLTALRIRATYGEYSTGYI
  DNVTLISARPVSGAPAPWVEQCICPVGYKGQFCQDCASGYKRDSARLGPFGTCIPCNCQG
  GGACDPDTGDCYSGDENPDIECADCPIGFYNDPHDPRSCKPCPCHNGFSCSVMPETEEVV
  CNNCPPGVTGARCELCADGYFGDPFGEHGPVRPCQPCQCNNNVDPSASGNCDRLTGRCLK
  CIHNTAGIYCDQCKAGYFGDPLAPNPADKCRACNCNPMGSEPVGCRSDGTCVCKPGFGGP
  NCEHGAFSCPACYNQVKIQMDQFMQQLQRMEALISKAQGGDGVVPDTELEGRMQQAEQAL
  QDILRDAQISEGASRSLGLQLAKVRSQENSYQSRLDDLKMTVERVRALGSQYQNRVRDTH
  RLITQMQLSLAESEASLGNTNIPASDHYVGPNGFKSLAQEATRLAESHVESASNMEQLTR
  ETEDYSKQALSLVRKALHEGVGSGSGSPDGAVVQGLVEKLEKTKSLAQQLTREATQAEIE
  ADRSYQHSLRLLDSVSRLQGVSDQSFQVEEAKRIKQKADSLSSLVTRHMDEFKRTQKNLG
  NWKEEAQQLLQNGKSGREKSDQLLSRANLAKSRAQEALSMGNATFYEVESILKNLREFDL
  QVDNRKAEAEEAMKRLSYISQKVSDASDKTQQAERALGSAAADAQRAKNGAGEALEISSE
  IEQEIGSLNLEANVTADGALAMEKGLASLKSEMREVEGELERKELEFDTNMDAVQMVITE
  AQKVDTRAKNAGVTIQDTLNTLDGLLHLMDQPLSVDEEGLVLLEQKLSRAKTQINSQLRP
  MMSELEERARQQRGHLHLLETSIDGILADVKNLENIRDNLPPGCYNTQALEQQ

• Sequence length: 1193

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Degradation of the extracellular matrix
Assembly of collagen fibrils and other multimeric structures
Anchoring fibril formation
Laminin interactions
Type I hemidesmosome assembly
MET activates PTK2 signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the skin	Likely pathogenic; Pathogenic	rs1660173338	RCV001814460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa, junctional 3A, intermediate	Likely pathogenic; Pathogenic	rs1659836821, rs1183519794, rs769983361, rs772306395, rs753268823, rs2526088692, rs118203899, rs118203901, rs1558088792, rs2526147354, rs1057516806, rs1057517353, rs759509443, rs778012079, rs1553267554, rs1553266871, rs1475860578, rs761388039	RCV005005868 RCV005005230 RCV005005904 RCV005005951 RCV005008088 RCV005012997 RCV005007854 RCV002051626 RCV002051627 RCV002051628 RCV005900633 RCV005010296 RCV005010289 RCV005010295 RCV005010668 RCV005010649 RCV005010732 RCV003148920	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolysis bullosa, junctional 3B, severe	Likely pathogenic; Pathogenic	rs1659836821, rs1183519794, rs769983361, rs2102196403, rs772306395, rs1660173338, rs2102231460, rs753268823, rs2526088692, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs2526147658, rs1043996591, rs1057516806, rs1057517353, rs759509443, rs778012079, rs201307156, rs1553267554, rs1553266871, rs1475860578	RCV005005868 RCV005005230 RCV005005904 RCV003987858 RCV005005951 RCV004577551 RCV002248477 RCV005008088 RCV005012997 RCV002051621 RCV002051622 RCV002051623 RCV002051624 RCV002051625 RCV003990474 RCV004576144 RCV005900633 RCV005010296 RCV005010289 RCV005010295 RCV004820844 RCV005010668 RCV005010649 RCV005010732	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa	Pathogenic; Likely pathogenic	rs779546941, rs1659229440, rs1659834817, rs1659836821, rs1660171997, rs772306395, rs1660058817, rs118203901, rs778012079, rs201307156, rs1553266871, rs1558092158, rs781458974, rs774734592	RCV001352883 RCV001352884 RCV001352885 RCV001352886 RCV001352727 RCV001532909 RCV003120728 RCV000778201 RCV002222499 RCV005055948 RCV001280655 RCV000780372 RCV005418956 RCV001352887	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa gravis of Herlitz	Pathogenic; Likely pathogenic	rs149930148, rs2102228390, rs2526043438, rs756321686, rs2526113458, rs2526082649, rs2526127239, rs2526037706, rs2526082204, rs1462711090, rs2526044331, rs2526118497, rs2526065086, rs2102245114, rs2526043721, rs2526054443, rs2526088480, rs2526093353, rs2526117177, rs2526107671, rs2525977235, rs2526127700, rs2526060163, rs2526118615, rs2526068932, rs2526121770, rs2526127586, rs2526117873, rs2525976456, rs2526064853, rs753268823, rs2525976672, rs2526088461, rs1558092501, rs80356683, rs118203899, rs771613805, rs1057516806, rs1057517353, rs759509443, rs1057516410, rs745512079, rs1057516444, rs757617349, rs1057516218, rs774080932, rs1057516487, rs1057516569, rs778012079, rs776142807, rs1057516383, rs1057516727, rs1057516935, rs1057517159, rs1057516473, rs201307156, rs1553265770, rs1553266052, rs1553266671, rs1553267345, rs1553267554, rs1553267679, rs1553267885, rs1553265902, rs1479808203, rs1553266260, rs1553264644, rs1553266433, rs1553267638, rs1553265794, rs1553267882, rs1043996591, rs1553266537, rs1553267007, rs1553266871, rs1553267356, rs1553267060, rs1553267499, rs1553267870, rs1217053724, rs151190720, rs1658950895, rs1659222371, rs1659228652, rs1659640091, rs1659667947, rs1659698585, rs1659784333, rs1660001380, rs1660001741, rs1660027790, rs1660029324, rs1173478186	RCV001329430 RCV002250088 RCV002306472 RCV002306491 RCV002306559 RCV002306578 RCV002306704 RCV002306769 RCV002309877 RCV002309999 RCV002308137 RCV002308251 RCV002308300 RCV002309052 RCV002309345 RCV002309447 RCV002306987 RCV002307045 RCV002307047 RCV002307096 RCV002307194 RCV002310080 RCV002310152 RCV002310163 RCV002310179 RCV002310306 RCV002310388 RCV002310587 RCV002308407 RCV002308438 RCV000169121 RCV003340867 RCV003388963 RCV000015655 RCV000015656 RCV000015657 RCV000412415 RCV000412328 RCV000409895 RCV000411347 RCV000410904 RCV000410004 RCV000410149 RCV000412046 RCV000409946 RCV000409444 RCV000411834 RCV000411591 RCV000410724 RCV000412295 RCV000410161 RCV000410843 RCV000411025 RCV000409389 RCV000409003 RCV000411632 RCV000671372 RCV000671089 RCV000673186 RCV000668939 RCV000673036 RCV000667616 RCV000667945 RCV000672479 RCV000665081 RCV000666628 RCV000675023 RCV000664915 RCV000667177 RCV000670414 RCV000667628 RCV000674713 RCV000667824 RCV000670422 RCV000664978 RCV000665428 RCV000669715 RCV000669182 RCV000673617 RCV000668123 RCV000761249 RCV000411449 RCV001264234 RCV001264235 RCV001264236 RCV001264237 RCV001264238 RCV001263663 RCV001263664 RCV001263665 RCV001263666 RCV001263667 RCV001263668 RCV001263669 RCV001263670	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa, non-Herlitz type	Pathogenic; Likely pathogenic	rs2102258267, rs2102228301, rs200783718, rs201307156, rs1217053724	RCV001806359 RCV001808211 RCV002250942 RCV001731663 RCV000761249	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LAMC2-related disorder	Pathogenic; Likely pathogenic	rs761475328, rs771613805, rs1057517353	RCV004753302 RCV003897828 RCV003392226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA NON-HERLITZ TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUNCTIONAL EPIDERMOLYSIS BULLOSA HERLITZ TYPE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUNCTIONAL EPIDERMOLYSIS BULLOSA MITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER EPIDERMOLYSIS BULLOSA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE GENERALIZED JUNCTIONAL EPIDERMOLYSIS BULLOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28535084, 29596541, 30626253		★☆☆☆☆ Found in Text Mining only
Acute necrotizing encephalopathy	Necrotizing Encephalopathy	BEFREE	31466711		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	11920553, 15609083		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	8958807		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25591736		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	8958807		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28535084, 29596541, 30626253		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28637114		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	16473856, 26956061, 8012394		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CTD_human_DG	24550734		★☆☆☆☆ Found in Text Mining only
Adult junctional epidermolysis bullosa (disorder)	Junctional Epidermolysis Bullosa	CLINVAR_DG	27696112		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30771762		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	30155553		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	29282337, 30282352, 31380776, 31463927, 31810489		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	30846386		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	26956061		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	29700775		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27903811, 28413821, 28453487, 28497179, 28800330, 29017912, 29049480, 29171991, 29282337, 29324921, 29386280, 29467305, 29523644, 29558986, 29898969, 29966201, 30037601, 30055655, 30248592, 30253800, 30348495, 30365556, 30509028, 30605056, 30735665, 30746564, 30747416, 30901713, 30927601, 31118310, 31201430, 31388720, 31491594, 31688040, 31699324, 31759396, 31771069		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27741429, 28185258, 28293476, 28334553, 28416596, 28550440, 29212830, 29331073, 29527688, 30116940, 30397248, 30405855, 30741620, 30867270, 31721001		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	24170107		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31511058		★☆☆☆☆ Found in Text Mining only
Angioendotheliomatosis	Angioendotheliomatosis	BEFREE	30346252		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	29895893		★☆☆☆☆ Found in Text Mining only
Ankyloglossia	Ankyloglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	15373767	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31182680		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	BEFREE	28799879, 31069530		★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	BEFREE	28287894, 29219781, 30192219, 31488095		★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	BEFREE	30074451		★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	28291422, 29027876, 29125433, 29125445, 29748208, 30497207, 31197535, 31203396, 31227858		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30611311		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30611311		★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	29386280, 29754206		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30152888		★☆☆☆☆ Found in Text Mining only
Behavioral variant of frontotemporal dementia	Behavioral Variant Of Frontotemporal Dementia	BEFREE	28337476, 29746584, 30906945		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	29687026		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	24493287		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	40366121	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29802040		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19147813		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	19147813		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	11564184, 8618020	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	29196574, 31439491		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	28119587, 29074982, 30050047		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31500523		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29086194, 31491754		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29230663, 29906422		★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	BEFREE	29124441		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	29388861		★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	30083957		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18559558	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35699794	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12519076		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28418226, 32280695	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19147813		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10964684, 16790082		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	11920553, 31182680, 31731384, 32005189, 33607476, 33624791, 34007003, 35180880, 35699794	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23798558	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22546478, 24205356	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31301414		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	BEFREE	31405906		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	29568992		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	28526811, 29624145		★☆☆☆☆ Found in Text Mining only
Cerebellar edema	Cerebellar edema	BEFREE	31227858		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	27903811, 29254099		★☆☆☆☆ Found in Text Mining only
Cerebral Angiitis	Cerebral Angiitis	BEFREE	31211179		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	27693189, 28119587, 29074982, 29226779, 30050047, 30351346		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	27693189, 29226779, 30351346		★☆☆☆☆ Found in Text Mining only
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type	Cerebral Amyloid Angiopathy	BEFREE	27903811		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30482403		★☆☆☆☆ Found in Text Mining only
Cerebral Vasospasm	Cerebral Vasospasm	BEFREE	27128592, 31585427		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28107809, 28247411, 28859081, 28971700, 29476447, 29480683, 29582975, 29748208, 30428887, 30467214, 30792248, 31059808, 31069530, 31376705, 31721012, 31818229		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	30531317		★☆☆☆☆ Found in Text Mining only
Cervical myelopathy	Cervical myelopathy	BEFREE	31622897		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28535084, 29596541, 30626253		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30771762		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	15105812	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31345467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38114514	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesteatoma	Cholesteatoma	Pubtator	23285167	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31670207		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28535084, 29059494, 31290330		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29128987, 30614807, 30758811, 31530118		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12519076	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26387539, 26905585, 28653882		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12643602, 15363037		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28653882, 38446659	Associate	★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	BEFREE	27773546, 28265819, 28283837, 28304223, 30626626		★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	27834628, 30699497		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	28338452, 31418647		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	24493287		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	28799867, 31157725, 31604132, 31780461		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31345467		★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	29700044		★☆☆☆☆ Found in Text Mining only
Congenital localized absence of skin	Congenital localized absence of skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	BEFREE	30968177		★☆☆☆☆ Found in Text Mining only
Congenital pyloric atresia	Congenital pyloric atresia	BEFREE	10367729		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30451103, 31003226		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	BEFREE	31590063		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	29142140, 29934424, 31058916, 31206560, 31306078, 31551692		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	28620382		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	30450100, 31620131		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	28799879, 30611152		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	31470398		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	27662296, 28585290, 30390679, 30862889		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27662296, 27911328, 27989773, 28216393, 28317649, 28346578, 28726050, 28752420, 28826189, 28859081, 29017593, 29318973, 29321235, 29324921, 29387532, 29498578, 29558979, 29614653, 29898969, 30055655, 30083957, 30149454, 30172624, 30351346, 30365556, 30423201, 30509028, 30611311, 30614807, 30770953, 30775992, 30881301, 30987684, 31026486, 31104015, 31104469, 31105644, 31139684, 31345148, 31400306, 31508810, 31802055, 31805990, 31810489, 31836810, 31849573		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28955218, 29061429, 29914023, 31029057		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	29859070	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29527163, 30400098, 30459657, 31108306, 31760473		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	11564184, 30542056, 8530087, 8618020, 8618058, 9205497, 9759651		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31370029		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	27203142, 28009229, 31073783, 31677031		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29626177, 31370029		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30775988		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28637114, 29151949		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27858714, 28413821, 30172624		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	28870420		★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	22546478	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28131199		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	30711771		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	30037601		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28131199, 28438677, 28535786, 28750305, 29913285, 30253732, 30460450, 31720944, 31805004		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	31157725, 31604132		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27730496, 30316638, 31383792		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16681770, 24070183	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24070183		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24070183	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	30454904		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	10367729, 11279058, 30542056, 7963683, 8012393		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa inversa dystrophica	Epidermolysis Bullosa Dystrophica Inversa	BEFREE	7987320		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa inversa dystrophica	Epidermolysis Bullosa Dystrophica Inversa	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	10469327, 10951251, 11564184, 15373767, 23958762, 25363238, 27827380, 29946029, 32222156, 7861013, 8618020, 8618058, 9085255, 9326326	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Progressiva	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)	Epidermolysis Bullosa	CTD_human_DG	24550734		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27272972, 30253732, 31208341		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29433947		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	40234833	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18559558, 31048097	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	25773857		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	30058027		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	18509095		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	30611152		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	30340200		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	29727742		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30544390		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	27662293, 28263742, 29514947, 29937097, 30714241, 31019994, 31139684, 31847891		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	27858708, 28592456, 30349851, 30906945, 31616982, 31748840		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	30265190		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	28288328		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29148901		★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	28452990		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20488869	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28115578, 29053069, 30235708, 30564626, 31485019		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28115578, 29053069, 30235708, 30564626, 31485019		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15743799		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31186691		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	30899093		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	29376890		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	27756115, 29110767, 29904402, 29939110, 30544390, 30705347, 30963477, 31382899, 31734909		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	31660990		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30642292		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	30642292	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31003226		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	27730496		★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	40649881	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	15133472	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35893033	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Coproporphyria	Hereditary Coproporphyria	BEFREE	28265819		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	CLINVAR_DG	11231327, 11564184, 11810295, 15373767, 16473856, 17916201, 27696112, 7849725, 8012394, 8983017, 9085255		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	BEFREE	1499575		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	GENOMICS_ENGLAND_DG	16473856, 26956061, 8012394		★☆☆☆☆ Found in Text Mining only
Herlitz Disease	Junctional epidermolysis bullosa gravis of Herlitz	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29074982, 29848382, 30616867, 30687961, 30721650		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	27773546, 28137972, 28291428, 28314198, 28324680, 28357554, 28686122, 28692063, 29076795, 29350598, 29393809, 29393813, 29435609, 29498604, 29594703, 29624145, 29726777, 29769186, 29957109, 29979129, 29995267, 30032421, 30041005, 30120611, 30259717, 30442699, 30467214, 30611134, 30611152, 30737652, 30947716, 30996058, 31003226, 31025176, 31049668, 31073783, 31134339, 31203396, 31209176, 31227858, 31264489, 31320464, 31359250, 31470398, 31574466, 31783365, 31834371, 31834503		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	28473344, 28744590, 29103634, 29148901, 29408782, 29520439, 30353860, 30611143, 30937451, 31059212, 31585427		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28821686		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	29371243		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26994043, 28081975, 28137972, 30611134, 30611152, 31209176, 31370029		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	31589043		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	24170107, 30468733		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20592257, 27330118, 27716663, 27794030, 28124618, 28137972, 28213293, 28554411, 28702344, 28826189, 28942688, 29046879, 29054536, 29096697, 29245058, 29261520, 29415470, 29523644, 29527163, 29859129, 30317034, 30372684, 30614807, 30735665, 30792413, 30820739, 30862889, 30881301, 31075283, 31156534, 31182505, 31278861, 31350262, 31488095, 31508810, 31511058, 31530118, 31628278, 31802039		★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	BEFREE	31616366		★☆☆☆☆ Found in Text Mining only
Intermediate generalized junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disk Displacement	Intervertebral Disk Displacement	BEFREE	28338452		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	27529842		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28916907		★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	10469327, 11564184, 1499575, 15373767, 21198797, 21357940, 21801158, 24387836, 24533970, 25950805, 27827380, 28561256, 7633458, 7861013, 8012393, 8012394, 8786121, 9085255, 9205497, 9759651		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	LHGDN	15373767		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	16473856, 8012394		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Junctional epidermolysis bullosa inversa	Junctional Epidermolysis Bullosa Inversa	Orphanet			★☆☆☆☆ Found in Text Mining only
Junctional split	Junctional split	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngostenosis	Laryngostenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	BEFREE	29331073		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	27529842		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	27794030, 29672930, 30083957, 30149288, 30440090, 30471248, 31051162, 31189032, 31293044, 31422676		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16285938		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28418226, 30626121		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	28452990, 29178525		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37542131	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	21408207		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	21408207		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23026198	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28653882	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	29208342		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30619796, 31088767		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	29498604		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29063349, 29895893, 30041075		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30642292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29230663, 29906422		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10964684, 16790082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31301414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30814617		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14695140		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21345334, 24048760, 28252644, 29325230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19147813		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21617852, 24976367, 27529842, 27693460, 28320147, 28653882, 29075565, 29325230, 29596541		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	30239270		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29124441		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30771762		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26678934, 30450100, 31620131		★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	BEFREE	29948137		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	29188303, 30717035		★☆☆☆☆ Found in Text Mining only
Meningoencephalocele	Meningoencephalocele	BEFREE	30968177		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	29521607, 30497223, 31574465		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29527163, 30400098, 30459657, 31108306, 31760473		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28337476, 30682327		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	18577287, 20592257, 28179036, 28189924, 28213293, 28216393, 28223932, 28236166, 28239639, 28344552, 28346578, 28441967, 28527210, 28861336, 28899429, 28979205, 29017593, 29061429, 29081416, 29128987, 29179578, 29245058, 29415470, 29458036, 29499171, 29558986, 29562515, 29914031, 30055655, 30149454, 30207231, 30297997, 30337152, 30447377, 30509028, 30524269, 30611311, 30614806, 30614807, 30775992, 30794315, 30847669, 30881301, 30903419, 30906244, 30958366, 30987684, 31010420, 31026486, 31104027, 31121601, 31152032, 31156534, 31166546, 31252287, 31350262, 31353852, 31371645, 31388720, 31424398, 31463927, 31491594, 31511058, 31526625, 31634898, 31795039, 31801648, 31805990, 31849573		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27271921		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	28543098, 29132035, 29392518, 30167879, 31802039		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	30116031		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	18559558, 32461624	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	19228736, 33880581	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29764386		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	31500523		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	31104888		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27699930, 27911122, 28082233, 28207850, 28495137, 28522366, 28543098, 28578025, 28627962, 28695148, 28755681, 29059494, 29068494, 29079686, 29090607, 29132035, 29174194, 29392518, 29408796, 29457657, 29511863, 29687026, 29873030, 29957390, 30142535, 30167879, 30196829, 30367882, 30386877, 30610965, 30619038, 30697184, 31024547, 31043476, 31170500, 31305892, 31383928, 31471502, 31501228, 31558148, 31645473, 31715425, 31802039		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	27787906, 28802830, 31305892, 31675639		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	31432428		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	28453487, 30372684, 30903419, 31424398		★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	30387527, 31405906, 31756639		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	12746479	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18559558, 19147813, 24048760, 25773857, 26387539, 26637872, 28409732, 28497184, 28598276, 28623761, 28653882, 29177676, 29315846, 29604293, 29882703, 30004280, 30235708, 30265190, 30611134, 31064334, 31148369, 31186691, 31297382, 31345467, 31376705, 31620131, 8958807		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28082233, 28991699, 29059494, 29212830, 31464088		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28695418		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30285664		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	28265819		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28137972, 28486988, 29353355, 29508283, 29704639, 29937097, 29948175, 30174644, 30248592, 30283455, 30348495, 30353860, 30635782, 30758811, 30858094, 31068645, 31093802, 31167811, 31414383, 31432418, 31432428, 31721540		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	30142535, 30248527, 30426010, 31471502, 31645473		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29222126		★☆☆☆☆ Found in Text Mining only
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	29846157, 30418114		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10964684		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	30381462		★☆☆☆☆ Found in Text Mining only
Obstructive Hydrocephalus	Obstructive Hydrocephalus	BEFREE	28799879, 29708982		★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Opsoclonus-Myoclonus Syndrome	Opsoclonus-myoclonus syndrome	BEFREE	29685330, 29727049		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	29305439, 31061727, 31715425		★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	29979129		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31301414		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32626953, 32878513, 34512203	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30814617		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23798558, 28611293, 32005189, 33624791, 34007003, 34606473, 36311789, 38267509	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28081975, 31148369		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	BEFREE	28934871, 30045288, 30074451, 30653369, 31176474		★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic Syndromes	BEFREE	29103425		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28179466, 28179471, 28244186, 28330963, 28554411, 28604235, 28750675, 28800113, 28821274, 29046879, 29141588, 29170290, 29331073, 29501577, 29626177, 30089615, 30248592, 30381367, 30390673, 30450079, 30504429, 30532185, 30814322, 30981640, 30983487, 31054380, 31278861, 31293044, 31484712, 31703585, 31721001		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29436735, 29843235, 30383831, 30423201, 31737952		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28179466, 29111028, 29843235, 31070772		★☆☆☆☆ Found in Text Mining only
Paronychia Inflammation	Paronychia Inflammation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	36430582	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28601860, 29846157		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28601860, 29846157		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30083957		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	29937097, 30714241, 31019994, 31139684, 31847891		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28778803		★☆☆☆☆ Found in Text Mining only
Pleocytosis	CSF pleocytosis	BEFREE	28101825, 28281443, 28716286, 29306858, 29312139, 29364387, 29408878, 29423617, 29443773, 29483006, 29540199, 29770929, 29856136, 29932377, 30300850, 30430892, 30482402, 30669985, 30708338, 30951880, 31022232, 31062226		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	29282336		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	16870608		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35551681	Inhibit	★☆☆☆☆ Found in Text Mining only
Posterior cortical atrophy syndrome	Posterior cortical atrophy	BEFREE	30340200, 31319885		★☆☆☆☆ Found in Text Mining only
Posterior reversible encephalopathy syndrome	Leukoencephalopathy	BEFREE	27848124		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28535084		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27662296, 27911328, 27989773, 28216393, 28317649, 28346578, 28726050, 28752420, 28826189, 28859081, 29017593, 29318973, 29321235, 29324921, 29387532, 29498578, 29614653, 29898969, 30037601, 30055655, 30083957, 30149454, 30172624, 30351346, 30365556, 30423201, 30509028, 30611311, 30614807, 30770953, 30775992, 30881301, 30987684, 31026486, 31104015, 31104469, 31105644, 31345148, 31508810, 31802055, 31805990, 31810489, 31836810, 31849573		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	28521029, 29151949, 29327175, 29986691, 30564626, 31064334		★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	27858708, 28179468, 29444966, 29514947, 30282352, 30640253		★☆☆☆☆ Found in Text Mining only
Progressive bulbar palsy	Bulbar palsy	BEFREE	29124441		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29282336, 29514947, 29948175, 30390673		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20729552	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	28212403		★☆☆☆☆ Found in Text Mining only
Pseudotumor Cerebri	intracranial hypertension	BEFREE	28137972, 28960170, 29078127, 29305439, 29519787, 29724759, 31122204, 31325030, 31352494, 31832847		★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	BEFREE	31023664		★☆☆☆☆ Found in Text Mining only
Pyloric Atresia	Pyloric Atresia	BEFREE	1499575		★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	31511058		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28826916		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27734750, 30935700		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29540199		★☆☆☆☆ Found in Text Mining only
Severe generalized junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus Thrombosis, Intracranial	Sinus Thrombosis, Intracranial	BEFREE	29363350, 30497227		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29149388		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28329084, 30597615, 30794315		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30037601		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10964684		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	31574475		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	28566180, 29196574, 31439491		★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	31297382		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	30721650		★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	BEFREE	31445043		★☆☆☆☆ Found in Text Mining only
Sporadic Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	27903811, 29386280		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15363037, 17390227, 17786338, 18559558		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18559558, 22546478, 24205356, 28327550, 30226546, 31345467		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18559558, 29511340		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18254958, 18669583, 19228736, 23026198, 26214683, 30226546, 30431092, 30642292, 31562292, 32597160, 33420101, 35506252	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32860673, 34612783	Stimulate	★☆☆☆☆ 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	30642292		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29315846		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21345334, 24048760, 28252644, 29325230		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28252644	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	27128592, 27759738, 27931120, 29110771, 29594703, 30306357, 30361489, 30482403, 31073783, 31415399, 31738583, 31811640, 31812149		★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	BEFREE	28338452, 28729294, 29027876, 29316818, 30074451, 30497207, 31675698		★☆☆☆☆ Found in Text Mining only
Tay-Sachs Disease	Tay-Sachs Disease	BEFREE	31432418		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36709879	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	31834371		★☆☆☆☆ Found in Text Mining only
Tumor Lysis Syndrome	Tumor Lysis Syndrome	BEFREE	28378140		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25358065, 27333824, 31504528		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	29063349		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26800519	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	29208342, 31421586		★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	32461624	Stimulate	★☆☆☆☆ Found in Text Mining only