LAMA1 (laminin subunit alpha 1)

Gene

• Entrez ID: 284217
• Gene name: Laminin subunit alpha 1
• Gene symbol: LAMA1
• Synonyms (NCBI Gene): LAMA, PTBHS, S-LAM-alpha
• Chromosome: 18
• Chromosome location: 18p11.31
• Summary: This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the ba

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs117433399	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143997842	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144738522	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146148365	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150849018	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200996196	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374851540	G>A	Pathogenic	Coding sequence variant, stop gained
rs376548651	G>A	Pathogenic	Coding sequence variant, stop gained
rs542213899	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs587777677	A>C	Pathogenic	Splice donor variant
rs587777679	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777680	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777681	A>C	Pathogenic	Stop gained, coding sequence variant
rs752872595	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs754361205	TGTGAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs758601967	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs764398676	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs767889331	G>A,C,T	Pathogenic	Missense variant, synonymous variant, stop gained, coding sequence variant
rs797044940	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs797045182	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045184	C>G	Pathogenic	Intron variant
rs898673491	C>T	Likely-pathogenic	Intron variant
rs1057517756	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064793632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795464	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1131691789	G>-	Pathogenic	Stop gained, coding sequence variant
rs1178073729	G>A	Pathogenic	Stop gained, coding sequence variant
rs1178467103	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1236564978	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555640521	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555654766	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555656402	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555658551	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1568019012	G>A	Pathogenic	Stop gained, coding sequence variant
rs1598328279	CT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022954	hsa-miR-124-3p	Microarray	18668037
MIRT1103228	hsa-miR-371b-5p	CLIP-seq
MIRT1103229	hsa-miR-4279	CLIP-seq
MIRT1103230	hsa-miR-4698	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF4	Activation	17141338
KLF6	Activation	17141338
SP1	Unknown	17141338
SP3	Unknown	17141338

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002011	Process	Morphogenesis of an epithelial sheet	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005515	Function	Protein binding	IPI	16677310, 17166913
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	2099832, 10964500
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	1678389
GO:0005606	Component	Laminin-1 complex	IDA	8601594
GO:0005606	Component	Laminin-1 complex	IEA
GO:0005606	Component	Laminin-1 complex	IPI	10964500
GO:0005608	Component	Laminin-3 complex	IPI	10964500
GO:0005615	Component	Extracellular space	IDA	10964500
GO:0005911	Component	Cell-cell junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	ISS
GO:0009888	Process	Tissue development	IEA
GO:0016020	Component	Membrane	IDA	16677310
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	23658023
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0031175	Process	Neuron projection development	IEA
GO:0043208	Function	Glycosphingolipid binding	IEA
GO:0043256	Component	Laminin complex	IEA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IEA
GO:0045785	Process	Positive regulation of cell adhesion	NAS	3794389
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	NAS	26555376
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0061304	Process	Retinal blood vessel morphogenesis	IEA
GO:0098637	Component	Protein complex involved in cell-matrix adhesion	NAS	3109910
GO:0110011	Process	Regulation of basement membrane organization	NAS	2119632
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	NAS	23948589

Other IDs

• MIM: 150320
• HGNC: 6481
• e!Ensembl: ENSG00000101680

Protein

• UniProt ID: P25391
• Protein name: Laminin subunit alpha-1 (Laminin A chain) (Laminin-1 subunit alpha) (Laminin-3 subunit alpha) (S-laminin subunit alpha) (S-LAM alpha)
• 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00055	Laminin_N	22 → 268	Laminin N-terminal (Domain VI)	Family
  PF00053	Laminin_EGF	270 → 324	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	327 → 394	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	397 → 453	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	454 → 500	Laminin EGF domain	Domain
  PF00052	Laminin_B	568 → 707	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	704 → 733	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	742 → 788	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	791 → 846	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	849 → 899	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	902 → 948	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	951 → 996	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	998 → 1041	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1044 → 1089	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1090 → 1147	Laminin EGF domain	Domain
  PF00052	Laminin_B	1218 → 1359	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	1358 → 1390	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1403 → 1449	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1452 → 1506	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1509 → 1560	Laminin EGF domain	Domain
  PF06008	Laminin_I	1575 → 1831	Laminin Domain I	Coiled-coil
  PF06009	Laminin_II	2011 → 2145	Laminin Domain II	Coiled-coil
  PF00054	Laminin_G_1	2146 → 2283	Laminin G domain	Domain
  PF00054	Laminin_G_1	2333 → 2469	Laminin G domain	Domain
  PF00054	Laminin_G_1	2514 → 2658	Laminin G domain	Domain
  PF00054	Laminin_G_1	2743 → 2872	Laminin G domain	Domain
  PF00054	Laminin_G_1	2920 → 3051	Laminin G domain	Domain

• Sequence:

  MRGGVLLVLLLCVAAQCRQRGLFPAILNLASNAHISTNATCGEKGPEMFCKLVEHVPGRP
  VRNPQCRICDGNSANPRERHPISHAIDGTNNWWQSPSIQNGREYHWVTITLDLRQVFQVA
  YVIIKAANAPRPGNWILERSLDGTTFSPWQYYAVSDSECLSRYNITPRRGPPTYRADDEV
  ICTSYYSRLVPLEHGEIHTSLINGRPSADDLSPKLLEFTSARYIRLRLQRIRTLNADLMT
  LSHREPKELDPIVTRRYYYSIKDISVGGMCICYGHASSCPWDETTKKLQCQCEHNTCGES
  CNRCCPGYHQQPWRPGTVSSGNTCEACNCHNKAKDCYYDESVAKQKKSLNTAGQFRGGGV
  CINCLQNTMGINCETCIDGYYRPHKVSPYEDEPCRPCNCDPVGSLSSVCIKDDLHSDLHN
  GKQPGQCPCKEGYTGEKCDRCQLGYKDYPTCVSCGCNPVGSASDEPCTGPCVCKENVEGK
  ACDRCKPGFYNLKEKNPRGCSECFCFGVSDVCSSLSWPVGQVNSMSGWLVTDLISPRKIP
  SQQDALGGRHQVSINNTAVMQRLAPKYYWAAPEAYLGNKLTAFGGFLKYTVSYDIPVETV
  DSNLMSHADVIIKGNGLTLSTQAEGLSLQPYEEYLNVVRLVPENFQDFHSKRQIDRDQLM
  TVLANVTHLLIRANYNSAKMALYRLESVSLDIASSNAIDLVVAADVEHCECPQGYTGTSC
  ESCLSGYYRVDGILFGGICQPCECHGHAAECNVHGVCIACAHNTTGVHCEQCLPGFYGEP
  SRGTPGDCQPCACPLTIASNNFSPTCHLNDGDEVVCDWCAPGYSGAWCERCADGYYGNPT
  VPGESCVPCDCSGNVDPSEAGHCDSVTGECLKCLGNTDGAHCERCADGFYGDAVTAKNCR
  ACECHVKGSHSAVCHLETGLCDCKPNVTGQQCDQCLHGYYGLDSGHGCRPCNCSVAGSVS
  DGCTDEGQCHCVPGVAGKRCDRCAHGFYAYQDGSCTPCDCPHTQNTCDPETGECVCPPHT
  QGVKCEECEDGHWGYDAEVGCQACNCSLVGSTHHRCDVVTGHCQCKSKFGGRACDQCSLG
  YRDFPDCVPCDCDLRGTSGDACNLEQGLCGCVEETGACPCKENVFGPQCNECREGTFALR
  ADNPLGCSPCFCSGLSHLCSELEDYVRTPVTLGSDQPLLRVVSQSNLRGTTEGVYYQAPD
  FLLDAATVRQHIRAEPFYWRLPQQFQGDQLMAYGGKLKYSVAFYSLDGVGTSNFEPQVLI
  KGGRIRKQVIYMDAPAPENGVRQEQEVAMRENFWKYFNSVSEKPVTREDFMSVLSDIEYI
  LIKASYGQGLQQSRISDISMEVGRKAEKLHPEEEVASLLENCVCPPGTVGFSCQDCAPGY
  HRGKLPAGSDRGPRPLVAPCVPCSCNNHSDTCDPNTGKCLNCGDNTAGDHCDVCTSGYYG
  KVTGSASDCALCACPHSPPASFSPTCVLEGDHDFRCDACLLGYEGKHCERCSSSYYGNPQ
  TPGGSCQKCDCNPHGSVHGDCDRTSGQCVCRLGASGLRCDECEPRHILMETDCVSCDDEC
  VGVLLNDLDEIGDAVLSLNLTGIIPVPYGILSNLENTTKYLQESLLKENMQKDLGKIKLE
  GVAEETDNLQKKLTRMLASTQKVNRATERIFKESQDLAIAIERLQMSITEIMEKTTLNQT
  LDEDFLLPNSTLQNMQQNGTSLLEIMQIRDFTQLHQNATLELKAAEDLLSQIQENYQKPL
  EELEVLKEAASHVLSKHNNELKAAEALVREAEAKMQESNHLLLMVNANLREFSDKKLHVQ
  EEQNLTSELIVQGRGLIDAAAAQTDAVQDALEHLEDHQDKLLLWSAKIRHHIDDLVMHMS
  QRNAVDLVYRAEDHAAEFQRLADVLYSGLENIRNVSLNATSAAYVHYNIQSLIEESEELA
  RDAHRTVTETSLLSESLVSNGKAAVQRSSRFLKEGNNLSRKLPGIALELSELRNKTNRFQ
  ENAVEITRQTNESLLILRAIPKGIRDKGAKTKELATSASQSAVSTLRDVAGLSQELLNTS
  ASLSRVNTTLRETHQLLQDSTMATLLAGRKVKDVEIQANLLFDRLKPLKMLEENLSRNLS
  EIKLLISQARKQAASIKVAVSADRDCIRAYQPQISSTNYNTLTLNVKTQEPDNLLFYLGS
  STASDFLAVEMRRGRVAFLWDLGSGSTRLEFPDFPIDDNRWHSIHVARFGNIGSLSVKEM
  SSNQKSPTKTSKSPGTANVLDVNNSTLMFVGGLGGQIKKSPAVKVTHFKGCLGEAFLNGK
  SIGLWNYIEREGKCRGCFGSSQNEDPSFHFDGSGYSVVEKSLPATVTQIIMLFNTFSPNG
  LLLYLGSYGTKDFLSIELFRGRVKVMTDLGSGPITLLTDRRYNNGTWYKIAFQRNRKQGV
  LAVIDAYNTSNKETKQGETPGASSDLNRLDKDPIYVGGLPRSRVVRRGVTTKSFVGCIKN
  LEISRSTFDLLRNSYGVRKGCLLEPIRSVSFLKGGYIELPPKSLSPESEWLVTFATTNSS
  GIILAALGGDVEKRGDREEAHVPFFSVMLIGGNIEVHVNPGDGTGLRKALLHAPTGTCSD
  GQAHSISLVRNRRIITVQLDENNPVEMKLGTLVESRTINVSNLYVGGIPEGEGTSLLTMR
  RSFHGCIKNLIFNLELLDFNSAVGHEQVDLDTCWLSERPKLAPDAEDSKLLPEPRAFPEQ
  CVVDAALEYVPGAHQFGLTQNSHFILPFNQSAVRKKLSVELSIRTFASSGLIYYMAHQNQ
  ADYAVLQLHGGRLHFMFDLGKGRTKVSHPALLSDGKWHTVKTDYVKRKGFITVDGRESPM
  VTVVGDGTMLDVEGLFYLGGLPSQYQARKIGNITHSIPACIGDVTVNSKQLDKDSPVSAF
  TVNRCYAVAQEGTYFDGSGYAALVKEGYKVQSDVNITLEFRTSSQNGVLLGISTAKVDAI
  GLELVDGKVLFHVNNGAGRITAAYEPKTATVLCDGKWHTLQANKSKHRITLIVDGNAVGA
  ESPHTQSTSVDTNNPIYVGGYPAGVKQKCLRSQTSFRGCLRKLALIKSPQVQSFDFSRAF
  ELHGVFLHSCPGTES

• Sequence length: 3075

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

Reactome:

Laminin interactions
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
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	Pathogenic; Likely pathogenic	rs2144180003, rs758223206, rs2143969631, rs776769192, rs2144202430, rs764581574, rs2143782472, rs2144126463, rs1457194859, rs1480105908, rs2144143962, rs2144036802, rs587777677, rs587777678, rs587777679, rs587777680, rs587777681, rs767943611, rs2144018381, rs748576952, rs2057777177, rs2510059044, rs746280012, rs2510073844, rs2057610007, rs997313077, rs797045182, rs797045184, rs2510059095, rs2510846304, rs2510067521, rs2510091792, rs772239586, rs2510843805, rs2510850080, rs1568043236, rs2510814886, rs2510109572, rs1064793632, rs1555643185, rs767889331, rs1555640521, rs376548651, rs374851540, rs1568019012, rs542213899, rs758601967, rs2057789980, rs2057730983, rs2058035458, rs2057544094, rs764745270	RCV001647166 RCV001647167 RCV001376038 RCV004783967 RCV001421030 RCV001421031 RCV001421032 RCV001421035 RCV001421036 RCV003339722 RCV001783521 RCV001783523 RCV000133604 RCV000133605 RCV000133606 RCV000133607 RCV000133608 RCV002211033 RCV002211034 RCV002269815 RCV002289215 RCV002290345 RCV002308633 RCV002468877 RCV002468878 RCV002471465 RCV000191927 RCV000191931 RCV002790026 RCV003154309 RCV003317663 RCV003236549 RCV003236652 RCV003333672 RCV003586430 RCV003988209 RCV003992651 RCV004527228 RCV005632415 RCV000613599 RCV001421033 RCV000626022 RCV001784188 RCV001421034 RCV000708572 RCV001827145 RCV002222193 RCV002290595 RCV001198465 RCV001199257 RCV001263497 RCV001263560	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs376011036	RCV005925428	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LAMA1-related disorder	Pathogenic	rs2510814794, rs2510089206	RCV003388193 RCV003388194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs764745270	RCV005909290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES, TRAUMATIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, OCULOMOTOR APRAXIA, CEREBELLAR CYSTS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy, congenital, merosin deficient or partially deficient	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	10674911		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	7967523		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27941887		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25668194, 33372590, 39284855	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27095636		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	27095636	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27095636		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28140686, 29432960, 30907188, 31422716		★☆☆☆☆ Found in Text Mining only
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	37967346	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24204716	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33500458	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	17591960	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17017982		★☆☆☆☆ Found in Text Mining only
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Poretti-Boltshauser syndrome	GENOMICS_ENGLAND_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Poretti-Boltshauser syndrome	BEFREE	25105227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Poretti-Boltshauser syndrome	ORPHANET_DG	25105227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Poretti-Boltshauser syndrome	CLINVAR_DG	25105227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Diseases	Cerebellar diseases	Pubtator	25105227, 27095636	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35070505	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28228162, 29206657, 29322375, 29858004, 30261979, 30463451, 30746196, 31096854, 31174106, 31349003, 31605923, 31759966		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25257191, 27941887, 29907957		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21298349, 23975090, 35202405	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	3476310		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	25105227		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31088393	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16537450	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22693455, 25951451	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22693455, 25951451		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22693455		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	22693455, 30054458		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	28115839		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	21664615		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	CLINVAR_DG			★☆☆☆☆ 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
Hirschsprung Disease	Hirschsprung disease	Pubtator	29093530	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31631986		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30232270		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	30244536		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31088393	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Keratosis pilaris	Keratosis pilaris	BEFREE	30244536		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23039241	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23039241		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	27095636		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25257191, 27941887		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	31631986		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10607917, 15102706, 19553699, 19854944, 20048158, 21937992, 23161681, 23263632, 24013853, 25105227, 2591971, 27095636, 6795355, 9151674		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	29544677		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	28544784	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17202400, 21795709, 26087013, 30545064		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28325301		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	21541277, 25105227, 27095636, 28544784	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	27095636		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopia 2	Myopia	Pubtator	21541277	Associate	★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	BEFREE	26862816		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	3476310		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	21664615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	21664615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	21664615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22693455, 25951451	Associate	★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29207108		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34512203	Associate	★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	26932191		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29544677		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29544677		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29967796		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36686480	Associate	★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	26932191		★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	26932191		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30232270		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	25105227, 27095636		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	37296184	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21743468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe expressive language delay	Expressive language delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	21541277		★☆☆☆☆ Found in Text Mining only
Severe receptive language delay	Delayed speech and language development	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	15593200	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27045085		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20237901	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21664615		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	8780383	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	30122583	Associate	★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only