Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55691
Gene name	FERM domain containing 4A
Gene symbol	FRMD4A
Synonyms (NCBI Gene)	CCAFCAFRMD4bA295P9.4
Chromosome	10
Chromosome location	10p13
Summary	This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation du

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SNP ID	Visualize variation	Clinical significance	Consequence
rs869025338	->CCTGGGACTCCAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

235

Show/Hide all (235)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042616	hsa-miR-423-3p	CLASH	23622248
MIRT440612	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440612	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1004470	hsa-miR-106a	CLIP-seq
MIRT1004471	hsa-miR-106b	CLIP-seq
MIRT1004472	hsa-miR-10a	CLIP-seq
MIRT1004473	hsa-miR-10b	CLIP-seq
MIRT1004474	hsa-miR-1193	CLIP-seq
MIRT1004475	hsa-miR-1208	CLIP-seq
MIRT1004476	hsa-miR-1273	CLIP-seq
MIRT1004477	hsa-miR-1321	CLIP-seq
MIRT1004478	hsa-miR-138	CLIP-seq
MIRT1004479	hsa-miR-17	CLIP-seq
MIRT1004480	hsa-miR-1909	CLIP-seq
MIRT1004481	hsa-miR-198	CLIP-seq
MIRT1004482	hsa-miR-20a	CLIP-seq
MIRT1004483	hsa-miR-20b	CLIP-seq
MIRT1004484	hsa-miR-2116	CLIP-seq
MIRT1004485	hsa-miR-2117	CLIP-seq
MIRT1004486	hsa-miR-302a	CLIP-seq
MIRT1004487	hsa-miR-302b	CLIP-seq
MIRT1004488	hsa-miR-302c	CLIP-seq
MIRT1004489	hsa-miR-302d	CLIP-seq
MIRT1004490	hsa-miR-302e	CLIP-seq
MIRT1004491	hsa-miR-3127-3p	CLIP-seq
MIRT1004492	hsa-miR-3134	CLIP-seq
MIRT1004493	hsa-miR-3187-3p	CLIP-seq
MIRT1004494	hsa-miR-320a	CLIP-seq
MIRT1004495	hsa-miR-320b	CLIP-seq
MIRT1004496	hsa-miR-320c	CLIP-seq
MIRT1004497	hsa-miR-320d	CLIP-seq
MIRT1004498	hsa-miR-320e	CLIP-seq
MIRT1004499	hsa-miR-325	CLIP-seq
MIRT1004500	hsa-miR-34b	CLIP-seq
MIRT1004501	hsa-miR-3616-3p	CLIP-seq
MIRT1004502	hsa-miR-3620	CLIP-seq
MIRT1004503	hsa-miR-3657	CLIP-seq
MIRT1004504	hsa-miR-3674	CLIP-seq
MIRT1004505	hsa-miR-372	CLIP-seq
MIRT1004506	hsa-miR-373	CLIP-seq
MIRT1004507	hsa-miR-3925-5p	CLIP-seq
MIRT1004508	hsa-miR-3926	CLIP-seq
MIRT1004509	hsa-miR-411	CLIP-seq
MIRT1004510	hsa-miR-4261	CLIP-seq
MIRT1004511	hsa-miR-4314	CLIP-seq
MIRT1004512	hsa-miR-4419a	CLIP-seq
MIRT1004513	hsa-miR-4429	CLIP-seq
MIRT1004514	hsa-miR-4435	CLIP-seq
MIRT1004515	hsa-miR-4496	CLIP-seq
MIRT1004516	hsa-miR-4510	CLIP-seq
MIRT1004517	hsa-miR-4529-5p	CLIP-seq
MIRT1004518	hsa-miR-4663	CLIP-seq
MIRT1004519	hsa-miR-4669	CLIP-seq
MIRT1004520	hsa-miR-4677-3p	CLIP-seq
MIRT1004521	hsa-miR-4677-5p	CLIP-seq
MIRT1004522	hsa-miR-4701-5p	CLIP-seq
MIRT1004523	hsa-miR-4721	CLIP-seq
MIRT1004524	hsa-miR-4739	CLIP-seq
MIRT1004525	hsa-miR-4753-3p	CLIP-seq
MIRT1004526	hsa-miR-4756-5p	CLIP-seq
MIRT1004527	hsa-miR-4762-5p	CLIP-seq
MIRT1004528	hsa-miR-4768-3p	CLIP-seq
MIRT1004529	hsa-miR-512-3p	CLIP-seq
MIRT1004530	hsa-miR-519d	CLIP-seq
MIRT1004531	hsa-miR-520a-3p	CLIP-seq
MIRT1004532	hsa-miR-520b	CLIP-seq
MIRT1004533	hsa-miR-520c-3p	CLIP-seq
MIRT1004534	hsa-miR-520d-3p	CLIP-seq
MIRT1004535	hsa-miR-520e	CLIP-seq
MIRT1004536	hsa-miR-548q	CLIP-seq
MIRT1004537	hsa-miR-548s	CLIP-seq
MIRT1004538	hsa-miR-548t	CLIP-seq
MIRT1004539	hsa-miR-588	CLIP-seq
MIRT1004540	hsa-miR-589	CLIP-seq
MIRT1004541	hsa-miR-592	CLIP-seq
MIRT1004542	hsa-miR-599	CLIP-seq
MIRT1004543	hsa-miR-658	CLIP-seq
MIRT1004544	hsa-miR-665	CLIP-seq
MIRT1004545	hsa-miR-93	CLIP-seq
MIRT1997766	hsa-miR-103a	CLIP-seq
MIRT1997767	hsa-miR-107	CLIP-seq
MIRT1004472	hsa-miR-10a	CLIP-seq
MIRT1004473	hsa-miR-10b	CLIP-seq
MIRT1997768	hsa-miR-1184	CLIP-seq
MIRT1997769	hsa-miR-1205	CLIP-seq
MIRT1997770	hsa-miR-1252	CLIP-seq
MIRT1004476	hsa-miR-1273	CLIP-seq
MIRT1997771	hsa-miR-128	CLIP-seq
MIRT1004478	hsa-miR-138	CLIP-seq
MIRT1997772	hsa-miR-139-5p	CLIP-seq
MIRT1997773	hsa-miR-141	CLIP-seq
MIRT1004480	hsa-miR-1909	CLIP-seq
MIRT1997774	hsa-miR-200a	CLIP-seq
MIRT1997775	hsa-miR-223	CLIP-seq
MIRT1997776	hsa-miR-296-3p	CLIP-seq
MIRT1997777	hsa-miR-298	CLIP-seq
MIRT1004486	hsa-miR-302a	CLIP-seq
MIRT1004487	hsa-miR-302b	CLIP-seq
MIRT1004488	hsa-miR-302c	CLIP-seq
MIRT1004489	hsa-miR-302d	CLIP-seq
MIRT1004490	hsa-miR-302e	CLIP-seq
MIRT1997778	hsa-miR-3064-5p	CLIP-seq
MIRT1004491	hsa-miR-3127-3p	CLIP-seq
MIRT1997779	hsa-miR-3177-5p	CLIP-seq
MIRT1004494	hsa-miR-320a	CLIP-seq
MIRT1004495	hsa-miR-320b	CLIP-seq
MIRT1004496	hsa-miR-320c	CLIP-seq
MIRT1004497	hsa-miR-320d	CLIP-seq
MIRT1004498	hsa-miR-320e	CLIP-seq
MIRT1997780	hsa-miR-3614-5p	CLIP-seq
MIRT1004501	hsa-miR-3616-3p	CLIP-seq
MIRT1004502	hsa-miR-3620	CLIP-seq
MIRT1997781	hsa-miR-3662	CLIP-seq
MIRT1997782	hsa-miR-3665	CLIP-seq
MIRT1997783	hsa-miR-3673	CLIP-seq
MIRT1004505	hsa-miR-372	CLIP-seq
MIRT1004506	hsa-miR-373	CLIP-seq
MIRT1997784	hsa-miR-376c	CLIP-seq
MIRT1997785	hsa-miR-377	CLIP-seq
MIRT1004508	hsa-miR-3926	CLIP-seq
MIRT1997786	hsa-miR-3934	CLIP-seq
MIRT1997787	hsa-miR-3940-5p	CLIP-seq
MIRT1997788	hsa-miR-4274	CLIP-seq
MIRT1004511	hsa-miR-4314	CLIP-seq
MIRT1997789	hsa-miR-432	CLIP-seq
MIRT1997790	hsa-miR-4328	CLIP-seq
MIRT1004513	hsa-miR-4429	CLIP-seq
MIRT1997791	hsa-miR-4433	CLIP-seq
MIRT1997792	hsa-miR-4459	CLIP-seq
MIRT1997793	hsa-miR-4507	CLIP-seq
MIRT1997794	hsa-miR-4519	CLIP-seq
MIRT1997795	hsa-miR-4645-5p	CLIP-seq
MIRT1997796	hsa-miR-4648	CLIP-seq
MIRT1004518	hsa-miR-4663	CLIP-seq
MIRT1997797	hsa-miR-4673	CLIP-seq
MIRT1004520	hsa-miR-4677-3p	CLIP-seq
MIRT1997798	hsa-miR-4695-3p	CLIP-seq
MIRT1997799	hsa-miR-4712-5p	CLIP-seq
MIRT1997800	hsa-miR-4714-3p	CLIP-seq
MIRT1004523	hsa-miR-4721	CLIP-seq
MIRT1997801	hsa-miR-4731-3p	CLIP-seq
MIRT1004525	hsa-miR-4753-3p	CLIP-seq
MIRT1004528	hsa-miR-4768-3p	CLIP-seq
MIRT1997802	hsa-miR-4789-3p	CLIP-seq
MIRT1997803	hsa-miR-4795-5p	CLIP-seq
MIRT1997804	hsa-miR-4801	CLIP-seq
MIRT1004531	hsa-miR-520a-3p	CLIP-seq
MIRT1004532	hsa-miR-520b	CLIP-seq
MIRT1004533	hsa-miR-520c-3p	CLIP-seq
MIRT1004534	hsa-miR-520d-3p	CLIP-seq
MIRT1004535	hsa-miR-520e	CLIP-seq
MIRT1997805	hsa-miR-520f	CLIP-seq
MIRT1997806	hsa-miR-532-3p	CLIP-seq
MIRT1997807	hsa-miR-545	CLIP-seq
MIRT1004536	hsa-miR-548q	CLIP-seq
MIRT1997808	hsa-miR-563	CLIP-seq
MIRT1997809	hsa-miR-581	CLIP-seq
MIRT1997810	hsa-miR-636	CLIP-seq
MIRT1997811	hsa-miR-642b	CLIP-seq
MIRT1997812	hsa-miR-657	CLIP-seq
MIRT1997813	hsa-miR-770-5p	CLIP-seq
MIRT1997814	hsa-miR-922	CLIP-seq
MIRT1997766	hsa-miR-103a	CLIP-seq
MIRT1997767	hsa-miR-107	CLIP-seq
MIRT2231423	hsa-miR-1224-3p	CLIP-seq
MIRT2231424	hsa-miR-1260	CLIP-seq
MIRT2231425	hsa-miR-1260b	CLIP-seq
MIRT2231426	hsa-miR-127-3p	CLIP-seq
MIRT2231427	hsa-miR-1280	CLIP-seq
MIRT2231428	hsa-miR-1283	CLIP-seq
MIRT2231429	hsa-miR-1294	CLIP-seq
MIRT2231430	hsa-miR-1304	CLIP-seq
MIRT1004477	hsa-miR-1321	CLIP-seq
MIRT2231431	hsa-miR-188-3p	CLIP-seq
MIRT2231432	hsa-miR-216a	CLIP-seq
MIRT2231433	hsa-miR-216b	CLIP-seq
MIRT2231434	hsa-miR-2681	CLIP-seq
MIRT1004486	hsa-miR-302a	CLIP-seq
MIRT1004487	hsa-miR-302b	CLIP-seq
MIRT1004488	hsa-miR-302c	CLIP-seq
MIRT1004489	hsa-miR-302d	CLIP-seq
MIRT1004490	hsa-miR-302e	CLIP-seq
MIRT2231435	hsa-miR-3120-5p	CLIP-seq
MIRT2231436	hsa-miR-3156-3p	CLIP-seq
MIRT2231437	hsa-miR-3197	CLIP-seq
MIRT2231438	hsa-miR-3200-5p	CLIP-seq
MIRT2231439	hsa-miR-34a	CLIP-seq
MIRT2231440	hsa-miR-34c-5p	CLIP-seq
MIRT2231441	hsa-miR-3670	CLIP-seq
MIRT1004505	hsa-miR-372	CLIP-seq
MIRT1004506	hsa-miR-373	CLIP-seq
MIRT1997785	hsa-miR-377	CLIP-seq
MIRT2231442	hsa-miR-431	CLIP-seq
MIRT2231443	hsa-miR-4330	CLIP-seq
MIRT1004512	hsa-miR-4419a	CLIP-seq
MIRT2231444	hsa-miR-4434	CLIP-seq
MIRT2231445	hsa-miR-449a	CLIP-seq
MIRT2231446	hsa-miR-449b	CLIP-seq
MIRT1004516	hsa-miR-4510	CLIP-seq
MIRT2231447	hsa-miR-4516	CLIP-seq
MIRT1997798	hsa-miR-4695-3p	CLIP-seq
MIRT1997800	hsa-miR-4714-3p	CLIP-seq
MIRT1997801	hsa-miR-4731-3p	CLIP-seq
MIRT1004524	hsa-miR-4739	CLIP-seq
MIRT1004526	hsa-miR-4756-5p	CLIP-seq
MIRT1997802	hsa-miR-4789-3p	CLIP-seq
MIRT1997804	hsa-miR-4801	CLIP-seq
MIRT2231448	hsa-miR-499-3p	CLIP-seq
MIRT2231449	hsa-miR-499a-3p	CLIP-seq
MIRT1004531	hsa-miR-520a-3p	CLIP-seq
MIRT1004532	hsa-miR-520b	CLIP-seq
MIRT1004533	hsa-miR-520c-3p	CLIP-seq
MIRT1004534	hsa-miR-520d-3p	CLIP-seq
MIRT1004535	hsa-miR-520e	CLIP-seq
MIRT2231450	hsa-miR-582-3p	CLIP-seq
MIRT1997811	hsa-miR-642b	CLIP-seq
MIRT2231451	hsa-miR-885-3p	CLIP-seq
MIRT2388215	hsa-miR-498	CLIP-seq
MIRT2449910	hsa-miR-149	CLIP-seq
MIRT2535290	hsa-miR-1237	CLIP-seq
MIRT2535291	hsa-miR-147	CLIP-seq
MIRT1997777	hsa-miR-298	CLIP-seq
MIRT2535292	hsa-miR-3119	CLIP-seq
MIRT1997780	hsa-miR-3614-5p	CLIP-seq
MIRT2535293	hsa-miR-3663-5p	CLIP-seq
MIRT2535294	hsa-miR-3678-3p	CLIP-seq
MIRT1997788	hsa-miR-4274	CLIP-seq
MIRT2535295	hsa-miR-4281	CLIP-seq
MIRT2535296	hsa-miR-4449	CLIP-seq
MIRT1997794	hsa-miR-4519	CLIP-seq
MIRT2535297	hsa-miR-4527	CLIP-seq
MIRT2535298	hsa-miR-4532	CLIP-seq
MIRT2535299	hsa-miR-502-5p	CLIP-seq
MIRT2535300	hsa-miR-513a-3p	CLIP-seq
MIRT1997809	hsa-miR-581	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	27044754
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0050709	Process	Negative regulation of protein secretion	IEA
GO:0050714	Process	Positive regulation of protein secretion	IMP	27044754
GO:0070161	Component	Anchoring junction	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA

MIM	HGNC	e!Ensembl
616305	25491	ENSG00000151474

Q9P2Q2

Protein name

FERM domain-containing protein 4A

Protein function

Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activa

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09379	FERM_N	24 → 86	FERM N-terminal domain	Domain
PF00373	FERM_M	105 → 221	FERM central domain	Domain
PF09380	FERM_C	225 → 326	FERM C-terminal PH-like domain	Domain
PF11819	CUPID	356 → 491	Cytohesin Ubiquitin Protein Inducing Domain	Domain

Sequence

MAVQLVPDSALGLLMMTEGRRCQVHLLDDRKLELLVQPKLLAKELLDLVASHFNLKEKEY
FGIAFTDETGHLNWLQLDRRVLEHDFPKKSGPVVLYFCVRFYIESISYLKDNATIELFFL
NAKSCIYKELIDVDSEVVFELASYILQEAKGDFSSNEVVRSDLKKLPALPTQALKEHPSL
AYCEDRVIEHYKKLNGQTRGQAIVNYMSIVESLPTYGVHYYAVKDKQGIPWWLGLSYKGI
FQYDYHDKVKPRKIFQWRQLENLYFREKKFSVEVHDPRRASVTRRTFGHSGIAVHTWYAC
PALIKSIWAMAISQHQFYLDRKQSKSKIHAARSLSEIAIDLTETGTLKTSKLANMGSKGK
IISGSSGSLLSSGSQESDSSQSAKKDMLAALKSRQEALEETLRQRLEELKKLCLREAELT
GKLPVEYPLDPGEEPPIVRRRIGTAFKLDEQKILPKGEEAELERLEREFAIQSQITEAAR
RLASDPNVSKKLKKQRKTSYLNALKKLQEIENAINENRIKSGKKPTQRASLIIDDGNIAS
EDSSLSDALVLEDEDSQVTSTISPLHSPHKGLPPRPPSHNRPPPPQSLEGLRQMHYHRND
YDKSPIKPKMWSESSLDEPYEKVKKRSSHSHSSSHKRFPSTGSCAEAGGGSNSLQNSPIR
GLPHWNSQSSMPSTPDLRVRSPHYVHSTRSVDISPTRLHSLALHFRHRSSSLESQGKLLG
SENDTGSPDFYTPRTRSSNGSDPMDDCSSCTSHSSSEHYYPAQMNANYSTLAEDSPSKAR
QRQRQRQRAAGALGSASSGSMPNLAARGGAGGAGGAGGGVYLHSQSQPSSQYRIKEYPLY
IEGGATPVVVRSLESDQEGHYSVKAQFKTSNSYTAGGLFKESWRGGGGDEGDTGRLTPSR
SQILRTPSLGREGAHDKGAGRAAVSDELRQWYQRSTASHKEHSRLSHTSSTSSDSGSQYS
TSSQSTFVAHSRVTRMPQMCKATSAALPQSQRSSTPSSEIGATPPSSPHHILTWQTGEAT
ENSPILDGSESPPHQSTDE

Sequence length

1039

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	Pathogenic; Likely pathogenic	rs869025338, rs2542166691, rs2491122657	RCV000207507 RCV004515801 RCV003990794	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	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.
ANTIPHOSPHOLIPID SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL MICROSOMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRMD4A-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY, AGENESIS OF CORPUS CALLOSUM, FACIAL DYSMORPHISM, CEREBELLAR ATAXIA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22430674, 25388005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	27044754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	22430674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	22430674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	GWASCAT_DG	28424481		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	16569242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Pancreatitis	Autoimmune pancreatitis	Pubtator	25985088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	GWASCAT_DG	31174203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	GWASCAT_DG	31174203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm	Basal Cell Neoplasm	GWASCAT_DG	31174203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37794108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22564525	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	GWASDB_DG	17632509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	GWASDB_DG	17632509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA	Corpus Callosum, Agenesis, With Facial Anomalies And Cerebellar Ataxia	GENOMICS_ENGLAND_DG	25388005, 30214071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA	Corpus Callosum, Agenesis, With Facial Anomalies And Cerebellar Ataxia	ORPHANET_DG	25388005		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA	Corpus Callosum, Agenesis, With Facial Anomalies And Cerebellar Ataxia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA	Corpus Callosum, Agenesis, With Facial Anomalies And Cerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphism	Dysmorphism	BEFREE	25388005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Goldenhar Syndrome	Goldenhar Syndrome	GWASCAT_DG	26853712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25388005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27666346	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	27666346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	25388005, 30214071	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	27666346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22564525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27666346	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27666346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	37019617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FRMD4A (FERM domain containing 4A)