Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	10319
Gene name	Laminin subunit gamma 3
Gene symbol	LAMC3
Synonyms (NCBI Gene)	OCCM
Chromosome	9
Chromosome location	9q34.12
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

23 Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113443891	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140540789	G>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs140955110	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs141497885	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs141724499	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs144242690	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs144662546	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs146221263	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147092908	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs149004188	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs192031352	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs199535979	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201785610	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs387906887	C>T	Pathogenic	Stop gained, coding sequence variant
rs571785750	G>A	Pathogenic	Missense variant, coding sequence variant
rs761516738	TG>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs769118642	C>A	Pathogenic	Coding sequence variant, stop gained
rs1057520165	->ACCGCGGGC	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion
rs1426926688	AGCACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554789398	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554789671	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564365706	G>A	Pathogenic	Stop gained, coding sequence variant
rs1588171883	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant

22 Show/Hide all (22)

miRTarBase ID	miRNA	Experiments
MIRT1103462	hsa-miR-1	CLIP-seq
MIRT1103463	hsa-miR-1269	CLIP-seq
MIRT1103464	hsa-miR-1269b	CLIP-seq
MIRT1103465	hsa-miR-1288	CLIP-seq
MIRT1103466	hsa-miR-206	CLIP-seq
MIRT1103467	hsa-miR-3138	CLIP-seq
MIRT1103468	hsa-miR-342-3p	CLIP-seq
MIRT1103469	hsa-miR-4515	CLIP-seq
MIRT1103470	hsa-miR-4740-5p	CLIP-seq
MIRT1103471	hsa-miR-4742-3p	CLIP-seq
MIRT1103472	hsa-miR-4800-5p	CLIP-seq
MIRT1103473	hsa-miR-613	CLIP-seq
MIRT1103474	hsa-miR-654-3p	CLIP-seq
MIRT2259415	hsa-miR-3126-3p	CLIP-seq
MIRT2259416	hsa-miR-3162-3p	CLIP-seq
MIRT2259417	hsa-miR-339-5p	CLIP-seq
MIRT2259418	hsa-miR-4663	CLIP-seq
MIRT2259419	hsa-miR-4786-5p	CLIP-seq
MIRT2259420	hsa-miR-769-5p	CLIP-seq
MIRT2390065	hsa-miR-326	CLIP-seq
MIRT2390066	hsa-miR-330-5p	CLIP-seq
MIRT2390067	hsa-miR-4330	CLIP-seq

12 Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005198	Function	Structural molecule activity	TAS	10225960
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	IEA
GO:0014002	Process	Astrocyte development	IEA
GO:0016020	Component	Membrane	TAS	10225960
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	TAS	10225960
GO:0060041	Process	Retina development in camera-type eye	IEA

MIM	HGNC	e!Ensembl
604349	6494	ENSG00000050555

Q9Y6N6

Protein name

Laminin subunit gamma-3 (Laminin-12 subunit gamma) (Laminin-14 subunit gamma) (Laminin-15 subunit gamma)

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
PF00052	Laminin_B	539 → 671	Laminin B (Domain IV)	Family
PF00053	Laminin_EGF	917 → 962	Laminin EGF domain	Domain
PF00053	Laminin_EGF	430 → 477	Laminin EGF domain	Domain
PF00053	Laminin_EGF	866 → 914	Laminin EGF domain	Domain
PF00053	Laminin_EGF	810 → 863	Laminin EGF domain	Domain
PF00053	Laminin_EGF	707 → 752	Laminin EGF domain	Domain
PF00053	Laminin_EGF	383 → 427	Laminin EGF domain	Domain
PF00053	Laminin_EGF	965 → 1013	Laminin EGF domain	Domain
PF00053	Laminin_EGF	271 → 324	Laminin EGF domain	Domain
PF00053	Laminin_EGF	327 → 380	Laminin EGF domain	Domain
PF00053	Laminin_EGF	755 → 807	Laminin EGF domain	Domain
PF00053	Laminin_EGF	669 → 704	Laminin EGF domain	Domain
PF00055	Laminin_N	35 → 269	Laminin N-terminal (Domain VI)	Family

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed in: skin, heart, lung, and the reproductive tracts.

Sequence

MAAAALLLGLALLAPRAAGAGMGACYDGAGRPQRCLPVFENAAFGRLAQASHTCGSPPED
FCPHVGAAGAGAHCQRCDAADPQRHHNASYLTDFHSQDESTWWQSPSMAFGVQYPTSVNI
TLRLGKAYEITYVRLKFHTSRPESFAIYKRSRADGPWEPYQFYSASCQKTYGRPEGQYLR
PGEDERVAFCTSEFSDISPLSGGNVAFSTLEGRPSAYNFEESPGLQEWVTSTELLISLDR
LNTFGDDIFKDPKVLQSYYYAVSDFSVGGRCKCNGHASECGPDVAGQLACRCQHNTTGTD
CERCLPFFQDRPWARGTAEAAHECLPCNCSGRSEECTFDRELFRSTGHGGRCHHCRDHTA
GPHCERCQENFYHWDPRMPCQPCDCQSAGSLHLQCDDTGTCACKPTVTGWKCDRCLPGFH
SLSEGGCRPCTCNPAGSLDTCDPRSGRCPCKENVEGNLCDRCRPGTFNLQPHNPAGCSSC
FCYGHSKVCASTAQFQVHHILSDFHQGAEGWWARSVGGSEHPPQWSPNGVLLSPEDEEEL
TAPEKFLGDQRFSYGQPLILTFRVPPGDSPLPVQLRLEGTGLALSLRHSSLSGPQDAGHP
REVELRFHLQETSEDVAPPLPPFHFQRLLANLTSLRLRVSPGPSPAGPVFLTEVRLTSAR
PGLSPPASWVEICSCPTGYTGQFCESCAPGYKREMPQGGPYASCVPCTCNQHGTCDPNTG
ICVCSHHTEGPSCERCLPGFYGNPFAGQADDCQPCPCPGQSACTTIPESREVVCTHCPPG
QRGRRCEVCDDGFFGDPLGLFGHPQPCHQCQCSGNVDPNAVGNCDPLSGHCLRCLHNTTG
DHCEHCQEGFYGSALAPRPADKCMPCSCHPQGSVSEQMPCDPVTGQCSCLPHVTARDCSR
CYPGFFDLQPGRGCRSCKCHPLGSQEDQCHPKTGQCTCRPGVTGQACDRCQLGFFGFSIK
GCRACRCSPLGAASAQCHENGTCVCRPGFEGYKCDRCHDNFFLTADGTHCQQCPSCYALV
KEEAAKLKARLTLTEGWLQGSDCGSPWGPLDILLGEAPRGDVYQGHHLLPGAREAFLEQM
MSLEGAVKAAREQLQRLNKGARCAQAGSQKTCTQLADLEAVLESSEEEILHAAAILASLE
IPQEGPSQPTKWSHLATEARALARSHRDTATKIAATAWRALLASNTSYALLWNLLEGRVA
LETQRDLEDRYQEVQAAQKALRTAVAEVLPEAESVLATVQQVGADTAPYLALLASPGALP
QKSRAEDLGLKAKALEKTVASWQHMATEAARTLQTAAQATLRQTEPLTKLHQEARAALTQ
ASSSVQAATVTVMGARTLLADLEGMKLQFPRPKDQAALQRKADSVSDRLLADTRKKTKQA
ERMLGNAAPLSSSAKKKGREAEVLAKDSAKLAKALLRERKQAHRRASRLTSQTQATLQQA
SQQVLASEARRQELEEAERVGAGLSEMEQQIRESRISLEKDIETLSELLARLGSLDTHQA
PAQALNETQWALERLRLQLGSPGSLQRKLSLLEQESQQQELQIQGFESDLAEIRADKQNL
EAILHSLPENCASWQ

Sequence length

1575

Interactions

View interactions

KEGG Pathway	Reactome Pathway
PI3K-Akt signaling pathway	Laminin interactions
Focal adhesion	MET activates PTK2 signaling
ECM-receptor interaction
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
LAMC3-related disorder	Likely pathogenic	rs1833833523	RCV003402880	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Occipital pachygyria and polymicrogyria	Likely pathogenic; Pathogenic	rs781432366, rs2133193948, rs775851709, rs1170064033, rs2133322852, rs1402701697, rs1439284027, rs2538309608, rs2490715564, rs761516738, rs1564365706, rs387906887	RCV001782373 RCV004526873 RCV002492161 RCV002271833 RCV002275673 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (39)
Acute myeloid leukemia	Uncertain significance; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	30573740	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	21572417, 28191889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	21572413	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	34356046	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL MALFORMATIONS, OCCIPITAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	28333195	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	35181757	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	27749845	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ 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	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	27749845	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal death	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	27749845, 34642315	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	27749845	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	27749845	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (42)
Alzheimer Disease	Alzheimer disease	Pubtator	26394601	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	38307919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21572417, 22495309	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21572417, 28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	34368859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36531485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CORTICAL MALFORMATIONS, OCCIPITAL	Cortical Occipital Malformations	UNIPROT_DG	21572413		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL MALFORMATIONS, OCCIPITAL	Cortical Occipital Malformations	ORPHANET_DG	21572413		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL MALFORMATIONS, OCCIPITAL	Cortical Occipital Malformations	GENOMICS_ENGLAND_DG	21572413		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL MALFORMATIONS, OCCIPITAL	Cortical Occipital Malformations	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL MALFORMATIONS, OCCIPITAL	Cortical Occipital Malformations	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	24255036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24255036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	24255036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	21572413, 25525159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	21572413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28333195		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	36232817	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	26802095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29247375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	33639934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of anterior portion of floor of mouth	Malignant Neoplasm Of Anterior Portion Of Floor Of Mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of floor of mouth	Malignant neoplasm of floor of mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lateral floor of mouth	Malignant tumor of lateral floor of mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of other sites within the lip and oral cavity	Malignant Neoplasm Of Lip And Oral Cavity	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of other specified parts of mouth	Malignant Neoplasm Of Mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30426560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	27749845	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	27749845		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Occipital pachygyria and polymicrogyria	Occipital Pachygyria And Polymicrogyria	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	33639934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pharyngeal Neoplasms	Pharyngeal Neoplasms	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36686480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	29247375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	33639934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26802095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ADH7	4	["Head and neck neoplasms","Mouth neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	4	["GWAS catalog (Head and neck neoplasms)","CTD (Mouth neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
TRIM5	4	["Head and neck neoplasms","Oral cavity carcinoma","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	4	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oral cavity carcinoma)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
HELQ	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
CCDC192	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
RERGL	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]

LAMC3 (laminin subunit gamma 3)

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