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	23499
Gene name	Microtubule actin crosslinking factor 1
Gene symbol	MACF1
Synonyms (NCBI Gene)	ABP620ACF7KIAA0754LIS9Lnc-PMIFMACFOFC4
Chromosome	1
Chromosome location	1p34.3
Summary	This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtu

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SNP ID	Visualize variation	Clinical significance	Consequence
rs559634261	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs755081350	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1488808726	G>C	Pathogenic	Coding sequence variant, missense variant
rs1557668270	G>T	Pathogenic	Coding sequence variant, missense variant
rs1557670503	G>T	Pathogenic	Coding sequence variant, missense variant
rs1557670515	T>G	Pathogenic	Coding sequence variant, missense variant
rs1557670520	G>T	Pathogenic	Coding sequence variant, missense variant

229

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018609	hsa-miR-335-5p	Microarray	18185580
MIRT024354	hsa-miR-215-5p	Microarray	19074876
MIRT024354	hsa-miR-215-5p	Microarray	19074876
MIRT026727	hsa-miR-192-5p	Microarray	19074876
MIRT031887	hsa-miR-16-5p	Proteomics	18668040
MIRT051446	hsa-let-7e-5p	CLASH	23622248
MIRT049242	hsa-miR-92a-3p	CLASH	23622248
MIRT049242	hsa-miR-92a-3p	CLASH	23622248
MIRT047816	hsa-miR-30d-5p	CLASH	23622248
MIRT046675	hsa-miR-222-3p	CLASH	23622248
MIRT045723	hsa-miR-125a-5p	CLASH	23622248
MIRT040282	hsa-miR-615-3p	CLASH	23622248
MIRT038342	hsa-miR-296-3p	CLASH	23622248
MIRT137383	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT137384	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1124911	hsa-miR-124	CLIP-seq
MIRT1124912	hsa-miR-1275	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124914	hsa-miR-15a	CLIP-seq
MIRT1124915	hsa-miR-15b	CLIP-seq
MIRT1124916	hsa-miR-16	CLIP-seq
MIRT1124917	hsa-miR-195	CLIP-seq
MIRT1124918	hsa-miR-19a	CLIP-seq
MIRT1124919	hsa-miR-19b	CLIP-seq
MIRT1124920	hsa-miR-2355-3p	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT1124923	hsa-miR-3120-3p	CLIP-seq
MIRT1124924	hsa-miR-3140-5p	CLIP-seq
MIRT1124925	hsa-miR-3160-3p	CLIP-seq
MIRT1124926	hsa-miR-3185	CLIP-seq
MIRT1124927	hsa-miR-3189-5p	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124929	hsa-miR-342-5p	CLIP-seq
MIRT1124930	hsa-miR-34b	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124934	hsa-miR-3677-5p	CLIP-seq
MIRT1124935	hsa-miR-3681	CLIP-seq
MIRT1124936	hsa-miR-3714	CLIP-seq
MIRT1124937	hsa-miR-377	CLIP-seq
MIRT1124938	hsa-miR-3910	CLIP-seq
MIRT1124939	hsa-miR-3973	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT1124941	hsa-miR-424	CLIP-seq
MIRT1124942	hsa-miR-4452	CLIP-seq
MIRT1124943	hsa-miR-4461	CLIP-seq
MIRT1124944	hsa-miR-451b	CLIP-seq
MIRT1124945	hsa-miR-4524	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124947	hsa-miR-4646-3p	CLIP-seq
MIRT1124948	hsa-miR-4663	CLIP-seq
MIRT1124949	hsa-miR-4664-5p	CLIP-seq
MIRT1124950	hsa-miR-4665-5p	CLIP-seq
MIRT1124951	hsa-miR-4680-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT1124954	hsa-miR-4719	CLIP-seq
MIRT1124955	hsa-miR-4773	CLIP-seq
MIRT1124956	hsa-miR-4789-5p	CLIP-seq
MIRT1124957	hsa-miR-4796-3p	CLIP-seq
MIRT1124958	hsa-miR-4802-5p	CLIP-seq
MIRT1124959	hsa-miR-497	CLIP-seq
MIRT1124960	hsa-miR-503	CLIP-seq
MIRT1124961	hsa-miR-506	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124963	hsa-miR-520g	CLIP-seq
MIRT1124964	hsa-miR-520h	CLIP-seq
MIRT1124965	hsa-miR-628-5p	CLIP-seq
MIRT1124966	hsa-miR-646	CLIP-seq
MIRT1124967	hsa-miR-676	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124971	hsa-miR-1285	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124972	hsa-miR-217	CLIP-seq
MIRT1124973	hsa-miR-2276	CLIP-seq
MIRT1124974	hsa-miR-23a	CLIP-seq
MIRT1124975	hsa-miR-23b	CLIP-seq
MIRT1124976	hsa-miR-23c	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124977	hsa-miR-296-5p	CLIP-seq
MIRT1124978	hsa-miR-3187-5p	CLIP-seq
MIRT1124927	hsa-miR-3189-5p	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124980	hsa-miR-3612	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124981	hsa-miR-3671	CLIP-seq
MIRT1124982	hsa-miR-371-5p	CLIP-seq
MIRT1124983	hsa-miR-371b-5p	CLIP-seq
MIRT1124984	hsa-miR-378g	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT1124985	hsa-miR-4314	CLIP-seq
MIRT1124986	hsa-miR-4418	CLIP-seq
MIRT1124987	hsa-miR-4459	CLIP-seq
MIRT1124988	hsa-miR-4486	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124989	hsa-miR-4695-5p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT1124991	hsa-miR-509-3-5p	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124992	hsa-miR-509-5p	CLIP-seq
MIRT1124993	hsa-miR-579	CLIP-seq
MIRT1124994	hsa-miR-590-3p	CLIP-seq
MIRT1124995	hsa-miR-612	CLIP-seq
MIRT1124996	hsa-miR-650	CLIP-seq
MIRT1124997	hsa-miR-665	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124911	hsa-miR-124	CLIP-seq
MIRT1124977	hsa-miR-296-5p	CLIP-seq
MIRT1124927	hsa-miR-3189-5p	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124936	hsa-miR-3714	CLIP-seq
MIRT1124938	hsa-miR-3910	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT2035274	hsa-miR-410	CLIP-seq
MIRT1124961	hsa-miR-506	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT2035275	hsa-miR-944	CLIP-seq
MIRT2265776	hsa-miR-142-5p	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT2265777	hsa-miR-186	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT2265778	hsa-miR-299-5p	CLIP-seq
MIRT1124923	hsa-miR-3120-3p	CLIP-seq
MIRT2265779	hsa-miR-3133	CLIP-seq
MIRT1124924	hsa-miR-3140-5p	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT2265780	hsa-miR-340	CLIP-seq
MIRT1124930	hsa-miR-34b	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124980	hsa-miR-3612	CLIP-seq
MIRT2265781	hsa-miR-3614-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT2265782	hsa-miR-3647-3p	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124937	hsa-miR-377	CLIP-seq
MIRT1124939	hsa-miR-3973	CLIP-seq
MIRT1124940	hsa-miR-409-5p	CLIP-seq
MIRT2265783	hsa-miR-4275	CLIP-seq
MIRT2265784	hsa-miR-4328	CLIP-seq
MIRT1124942	hsa-miR-4452	CLIP-seq
MIRT1124987	hsa-miR-4459	CLIP-seq
MIRT1124943	hsa-miR-4461	CLIP-seq
MIRT1124944	hsa-miR-451b	CLIP-seq
MIRT2265785	hsa-miR-4539	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124951	hsa-miR-4680-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124989	hsa-miR-4695-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT2265786	hsa-miR-4762-3p	CLIP-seq
MIRT1124956	hsa-miR-4789-5p	CLIP-seq
MIRT1124957	hsa-miR-4796-3p	CLIP-seq
MIRT1124958	hsa-miR-4802-5p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT1124962	hsa-miR-5095	CLIP-seq
MIRT1124963	hsa-miR-520g	CLIP-seq
MIRT1124964	hsa-miR-520h	CLIP-seq
MIRT2265787	hsa-miR-548aa	CLIP-seq
MIRT2265788	hsa-miR-586	CLIP-seq
MIRT1124994	hsa-miR-590-3p	CLIP-seq
MIRT1124966	hsa-miR-646	CLIP-seq
MIRT1124996	hsa-miR-650	CLIP-seq
MIRT1124997	hsa-miR-665	CLIP-seq
MIRT1124968	hsa-miR-885-5p	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124911	hsa-miR-124	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124918	hsa-miR-19a	CLIP-seq
MIRT1124919	hsa-miR-19b	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT2565082	hsa-miR-3183	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124936	hsa-miR-3714	CLIP-seq
MIRT1124938	hsa-miR-3910	CLIP-seq
MIRT2035274	hsa-miR-410	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT2565083	hsa-miR-4713-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT2565084	hsa-miR-4723-3p	CLIP-seq
MIRT2565085	hsa-miR-4753-3p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT1124961	hsa-miR-506	CLIP-seq
MIRT2565086	hsa-miR-520d-5p	CLIP-seq
MIRT2565087	hsa-miR-524-5p	CLIP-seq
MIRT2565088	hsa-miR-548c-3p	CLIP-seq
MIRT2565089	hsa-miR-642a	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT2035275	hsa-miR-944	CLIP-seq
MIRT1124913	hsa-miR-144	CLIP-seq
MIRT1124918	hsa-miR-19a	CLIP-seq
MIRT1124919	hsa-miR-19b	CLIP-seq
MIRT1124921	hsa-miR-25	CLIP-seq
MIRT1124922	hsa-miR-2681	CLIP-seq
MIRT2565082	hsa-miR-3183	CLIP-seq
MIRT1124928	hsa-miR-32	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq
MIRT1124931	hsa-miR-3607-5p	CLIP-seq
MIRT1124932	hsa-miR-363	CLIP-seq
MIRT1124933	hsa-miR-367	CLIP-seq
MIRT1124946	hsa-miR-4645-3p	CLIP-seq
MIRT1124952	hsa-miR-4680-5p	CLIP-seq
MIRT1124953	hsa-miR-4718	CLIP-seq
MIRT2565084	hsa-miR-4723-3p	CLIP-seq
MIRT2565085	hsa-miR-4753-3p	CLIP-seq
MIRT1124990	hsa-miR-494	CLIP-seq
MIRT2565089	hsa-miR-642a	CLIP-seq
MIRT1124969	hsa-miR-92a	CLIP-seq
MIRT1124970	hsa-miR-92b	CLIP-seq
MIRT1124979	hsa-miR-338-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003779	Function	Actin binding	IDA	10559237
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15265687, 17043677, 27693509, 27802168, 31413325
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10559237, 15265687, 16076900
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	15265687, 16076900
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	NAS	10529403
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	16076900
GO:0005874	Component	Microtubule	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005886	Component	Plasma membrane	IDA	20937854
GO:0005886	Component	Plasma membrane	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0010632	Process	Regulation of epithelial cell migration	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0022603	Process	Regulation of anatomical structure morphogenesis	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	ISS
GO:0030334	Process	Regulation of cell migration	IDA	27693509
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031252	Component	Cell leading edge	IEA
GO:0031344	Process	Regulation of cell projection organization	IEA
GO:0032587	Component	Ruffle membrane	IDA	20937854
GO:0032587	Component	Ruffle membrane	IEA
GO:0032886	Process	Regulation of microtubule-based process	IBA
GO:0032886	Process	Regulation of microtubule-based process	IEA
GO:0032886	Process	Regulation of microtubule-based process	IMP	20937854
GO:0042060	Process	Wound healing	IBA
GO:0042060	Process	Wound healing	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IDA	15265687
GO:0045104	Process	Intermediate filament cytoskeleton organization	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045773	Process	Positive regulation of axon extension	IDA	22705394
GO:0046872	Function	Metal ion binding	IEA
GO:0051011	Function	Microtubule minus-end binding	IDA	27693509
GO:0051015	Function	Actin filament binding	IDA	27693509
GO:0051015	Function	Actin filament binding	NAS	10529403, 10559237
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:0051893	Process	Regulation of focal adhesion assembly	IBA
GO:0051893	Process	Regulation of focal adhesion assembly	IDA	27693509
GO:0051893	Process	Regulation of focal adhesion assembly	IEA
GO:0051893	Process	Regulation of focal adhesion assembly	ISS
GO:0090150	Process	Establishment of protein localization to membrane	IEA
GO:0150011	Process	Regulation of neuron projection arborization	ISS

MIM	HGNC	e!Ensembl
608271	13664	ENSG00000127603

Q9UPN3

Protein name

Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (620 kDa actin-binding protein) (ABP620) (Actin cross-linking family protein 7) (Macrophin-1) (Trabeculin-alpha)

Protein function

[Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtub

PDB

4Z6G , 5VE9 , 5X57

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	78 → 182	Calponin homology (CH) domain	Domain
PF00307	CH	194 → 299	Calponin homology (CH) domain	Domain
PF17902	SH3_10	857 → 923	SH3 domain	Domain
PF18373	Spectrin_like	958 → 1035	Spectrin like domain	Domain
PF00681	Plectin	1578 → 1618	Plectin repeat	Repeat
PF00681	Plectin	1655 → 1695	Plectin repeat	Repeat
PF00681	Plectin	1769 → 1809	Plectin repeat	Repeat
PF00681	Plectin	1807 → 1847	Plectin repeat	Repeat
PF00681	Plectin	2291 → 2331	Plectin repeat	Repeat
PF00681	Plectin	2367 → 2407	Plectin repeat	Repeat
PF00681	Plectin	2405 → 2439	Plectin repeat	Repeat
PF00681	Plectin	2501 → 2541	Plectin repeat	Repeat
PF00681	Plectin	2687 → 2727	Plectin repeat	Repeat
PF00435	Spectrin	3882 → 3994	Spectrin repeat	Domain
PF00435	Spectrin	3999 → 4109	Spectrin repeat	Domain
PF00435	Spectrin	4465 → 4574	Spectrin repeat	Domain
PF00435	Spectrin	4798 → 4905	Spectrin repeat	Domain
PF00435	Spectrin	4908 → 5012	Spectrin repeat	Domain
PF00435	Spectrin	5234 → 5341	Spectrin repeat	Domain
PF00435	Spectrin	5344 → 5450	Spectrin repeat	Domain
PF00435	Spectrin	5453 → 5559	Spectrin repeat	Domain
PF00435	Spectrin	5780 → 5885	Spectrin repeat	Domain
PF00435	Spectrin	6004 → 6110	Spectrin repeat	Domain
PF00435	Spectrin	6113 → 6220	Spectrin repeat	Domain
PF00435	Spectrin	6223 → 6329	Spectrin repeat	Domain
PF00435	Spectrin	6332 → 6439	Spectrin repeat	Domain
PF00435	Spectrin	6442 → 6548	Spectrin repeat	Domain
PF00435	Spectrin	6551 → 6658	Spectrin repeat	Domain
PF00435	Spectrin	6663 → 6766	Spectrin repeat	Domain
PF00435	Spectrin	6769 → 6875	Spectrin repeat	Domain
PF13499	EF-hand_7	7043 → 7107	EF-hand domain pair	Domain
PF02187	GAS2	7122 → 7190	Growth-Arrest-Specific Protein 2 Domain	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 2: Ubiquitously expressed. Isoform 1: Expressed in cell lines NCI-H460, A-549 and HaCaT. Isoform 4: Expressed in heart, lung, pituitary and placenta, not found in brain, kidney, liver, pancreas or skeletal muscle. {ECO:0000269|

Sequence

MSSSDEETLSERSCRSERSCRSERSYRSERSGSLSPCPPGDTLPWNLPLHEQKKRKSQDS
VLDPAERAVVRVADERDRVQKKTFTKWVNKHLMKVRKHINDLYEDLRDGHNLISLLEVLS
GIKLPREKGRMRFHRLQNVQIALDFLKQRQVKLVNIRNDDITDGNPKLTLGLIWTIILHF
QISDIYISGESGDMSAKEKLLLWTQKVTAGYTGIKCTNFSSCWSDGKMFNALIHRYRPDL
VDMERVQIQSNRENLEQAFEVAERLGVTRLLDAEDVDVPSPDEKSVITYVSSIYDAFPKV
PEGGEGISATEVDSRWQEYQSRVDSLIPWIKQHTILMSDKTFPQNPVELKALYNQYIHFK
ETEILAKEREKGRIEELYKLLEVWIEFGRIKLPQGYHPNDVEEEWGKLIIEMLEREKSLR
PAVERLELLLQIANKIQNGALNCEEKLTLAKNTLQADAAHLESGQPVQCESDVIMYIQEC
EGLIRQLQVDLQILRDENYYQLEELAFRVMRLQDELVTLRLECTNLYRKGHFTSLELVPP
STLTTTHLKAEPLTKATHSSSTSWFRKPMTRAELVAISSSEDEGNLRFVYELLSWVEEMQ
MKLERAEWGNDLPSVELQLETQQHIHTSVEELGSSVKEARLYEGKMSQNFHTSYAETLGK
LETQYCKLKETSSFRMRHLQSLHKFVSRATAELIWLNEKEEEELAYDWSDNNSNISAKRN
YFSELTMELEEKQDVFRSLQDTAELLSLENHPAKQTVEAYSAAVQSQLQWMKQLCLCVEQ
HVKENTAYFQFFSDARELESFLRNLQDSIKRKYSCDHNTSLSRLEDLLQDSMDEKEQLIQ
SKSSVASLVGRSKTIVQLKPRSPDHVLKNTISVKAVCDYRQIEITICKNDECVLEDNSQR
TKWKVISPTGNEAMVPSVCFLIPPPNKDAIEMASRVEQSYQKVMALWHQLHVNTKSLISW
NYLRKDLDLVQTWNLEKLRSSAPGECHQIMKNLQAHYEDFLQDSRDSVLFSVADRLRLEE
EVEACKARFQHLMKSMENEDKEETVAKMYISELKNIRLRLEEYEQRVVKRIQSLASSRTD
RDAWQDNALRIAEQEHTQEDLQQLRSDLDAVSMKCDSFLHQSPSSSSVPTLRSELNLLVE
KMDHVYGLSTVYLNKLKTVDVIVRSIQDAELLVKGYEIKLSQEEVVLADLSALEAHWSTL
RHWLSDVKDKNSVFSVLDEEIAKAKVVAEQMSRLTPERNLDLERYQEKGSQLQERWHRVI
AQLEIRQSELESIQEVLGDYRACHGTLIKWIEETTAQQEMMKPGQAEDSRVLSEQLSQQT
ALFAEIERNQTKLDQCQKFSQQYSTIVKDYELQLMTYKAFVESQQKSPGKRRRMLSSSDA
ITQEFMDLRTRYTALVTLTTQHVKYISDALRRLEEEEKVVEEEKQEHVEKVKELLGWVST
LARNTQGKATSSETKESTDIEKAILEQQVLSEELTTKKEQVSEAIKTSQIFLAKHGHKLS
EKEKKQISEQLNALNKAYHDLCDGSANQLQQLQSQLAHQTEQKECRAVAGVIDLGTVEIF
PIFKAMQKGLLDQDTGLVLLESQVIMSGLIAPETGENLSLEEGIARNLINPQMYQQLREL
QDALALISRLTESRGPLSVVEAIEKRIISETVGLKILEAHLATGGFSLSPSENCINLEEA
FHQGLISAWLHSVLESYLRTSKNLIDPNTAEKIGLLDLMQRCIVHQESGFKLLPVKQLAG
GMVSLKSGRKVSIFRAVQEGLIDRQVTVRLLEAQLFAGGIVDPRTGHRLTVEEAVRHNLI
DQDMACAILIRQLQTGGIIDTVTGQRLTIDEAVSNDLVAAKIALVILESLWSFMGLLWPE
SGEILPITDALEQGIVSTELAHKILSNRQHIKALFLPATTEILSWKKAIESGILDRDLAN
NLKSICIPDVMPHMQLADSAEQNINPGAAVLPCSKSHPKATASQSENLLFQLMTHSYINV
QNGQRLLLLDKELMETLTSRDEYQTSPPKVVEIGHQRQKTPEGLQESANVKISGTFSSGW
TVRLPEFQFSSQNKEYPDREDCTTEKGKKTTVETEDSSVENPEQDLFVEQKERNPNIDAL
KVINKVKLEVQRQLIGTQREDQTAVSVRENASRGHLLTIPPAEAEGVPLVVDKDVFSVET
PKKEHQPLRNTSFTCQNEQAHTLETEYIHDETGGSHIKPQSKKLQVQVKKTLGIKLELKS
ETDGNVHPLDKKEMLKKTFLAKDDHKESQEAQNIAGGSMMMSEKTDEEDSGREIFLSCSH
PLELLEEATLNVLSAQLLDGGIFHEQTGQKLLLNEAISRGIVPSHTAVKLMEKLNMFQGF
FDSQTCESLTTEEVINEGLMDEKLLHNVLMADKAISGVLDPRTQTLCSVKDAVTVGLLDK
ETATRILERQVVTGGIIDLKRGKKVSVTLASTLGLVDVADQPELINLEKASKGRDAEKTV
RERLISLQMETTGLIDPDSKAPLTVVQSIDRGLLEREEAVRLLTKQVVDGGIIHHISGMR
LSVDNAFRHGLIGEDLAEKLKRVENLNIHQIFNPETKENISLPKAIKLDLITSDLKREIQ
EVQAFTGNFVDLISGQRLTLAEAKKEGLLTNEAVLSPGMMHGIVDPENCRIVPYSELVKK
CKIDIESGQRYLEVIPFSDIKDGVSDKVLTLSQAIQLGKVDFASTLKVLEAQANTGGIID
TATGKRLTLASALEEKLVDENMVRIIASHQVLNGGIVDIFSDQRVTLVEAIEKRLISPEL
ANMIQIDSSEFSDHRAQIEKQEGIEVCALQNEFLGKDMLIACNQTAEMSCNKVEESERLF
QVENQSAQEKVKVRVSDGEQAKKSREISLKEFGCKDQRKPRMSSDAKEFISIINPHNLKG
KSLGQVSLTHPYSECDFKLKEVARNNMGNDTNEEQEKAVTKIEIISHMKQSTSCLDSEEI
RENQGEVILEVQETYCETSGKLPSEQVLQQPMNARVKSKREKREVIVEESIRTCKPAFLS
EEKLYQETAIRDEHDSHIKSQPREMTSSEKGKEADTEMGFSITFKIEESSSQVVPQGISV
KHLDALTLFSSKQANEGKVNNLSLCLTLKPEENLSREIACGAQSEPFPCMTPRPEGLHYQ
ESDGKAQVTGPSQISKTDKSFQGTTRQETNYQDSWVTSKTKETKHQISSSNECKEKSYQE
VSFDPARGLKLEEITVSRPDSKEVRYLEFSDRKDLHHQGSKSDDKLCGTLKSEIATQELT
GEKFLEMANPNVAGLEAGSIEDIVTQRGSRVLGSFLPEKLFKGVSQKENTGQQNAIISPT
VLETSEEKTVSLTVCSAVKTEKTPQEKLRESPGSEQTPFMTAPEGKGNGGVNPEPFRATQ
NVFTRQLCLEHDEKLVSYLSLLRNIEMRTKQIQPLELNLAELQDLLCQAKVLERELKDLT
TLVSQELECVNQIIISQPQEVPAQLLKALEKDAKNLQKSLSSVSDTWNSRLLHFQNAVEI
EKTKVLNQHTQLEGRLQDLRAWVGNKNLILNSKGSNSEIDVDSLNLCLQQYEDLKQPMAE
RKAQLDALAFDIQFFISEHAQDLSPQQNRQMLRLLNELQRSFQDILEQTAAQVDALQGHL
QQMEQEALVKTLQKQQNTCHQQLEDLCSWVGQAERALAGHQGRTTQQDLSALQKNQSDLK
DLQDDIQNRATSFATVVKDIEGFMEENQTKLSPRELTALREKLHQAKEQYEALQEETRVA
QKELEEAVTSALQQETEKSKAAKELAENKKKIDALLDWVTSVGSSGGQLLTNLPGMEQLS
GASLEKGALDTTDGYMGVNQAPEKLDKQCEMMKARHQELLSQQQNFILATQSAQAFLDQH
GHNLTPEEQQMLQQKLGELKEQYSTSLAQSEAELKQVQTLQDELQKFLQDHKEFESWLER
SEKELENMHKGGSSPETLPSLLKRQGSFSEDVISHKGDLRFVTISGQKVLDMENSFKEGK
EPSEIGNLVKDKLKDATERYTALHSKCTRLGSHLNMLLGQYHQFQNSADSLQAWMQACEA
NVEKLLSDTVASDPGVLQEQLATTKQLQEELAEHQVPVEKLQKVARDIMEIEGEPAPDHR
HVQETTDSILSHFQSLSYSLAERSSLLQKAIAQSQSVQESLESLLQSIGEVEQNLEGKQV
SSLSSGVIQEALATNMKLKQDIARQKSSLEATREMVTRFMETADSTTAAVLQGKLAEVSQ
RFEQLCLQQQEKESSLKKLLPQAEMFEHLSGKLQQFMENKSRMLASGNQPDQDITHFFQQ
IQELNLEMEDQQENLDTLEHLVTELSSCGFALDLCQHQDRVQNLRKDFTELQKTVKEREK
DASSCQEQLDEFRKLVRTFQKWLKETEGSIPPTETSMSAKELEKQIEHLKSLLDDWASKG
TLVEEINCKGTSLENLIMEITAPDSQGKTGSILPSVGSSVGSVNGYHTCKDLTEIQCDMS
DVNLKYEKLGGVLHERQESLQAILNRMEEVHKEANSVLQWLESKEEVLKSMDAMSSPTKT
ETVKAQAESNKAFLAELEQNSPKIQKVKEALAGLLVTYPNSQEAENWKKIQEELNSRWER
ATEVTVARQRQLEESASHLACFQAAESQLRPWLMEKELMMGVLGPLSIDPNMLNAQKQQV
QFMLKEFEARRQQHEQLNEAAQGILTGPGDVSLSTSQVQKELQSINQKWVELTDKLNSRS
SQIDQAIVKSTQYQELLQDLSEKVRAVGQRLSVQSAISTQPEAVKQQLEETSEIRSDLEQ
LDHEVKEAQTLCDELSVLIGEQYLKDELKKRLETVALPLQGLEDLAADRINRLQAALAST
QQFQQMFDELRTWLDDKQSQQAKNCPISAKLERLQSQLQENEEFQKSLNQHSGSYEVIVA
EGESLLLSVPPGEEKRTLQNQLVELKNHWEELSKKTADRQSRLKDCMQKAQKYQWHVEDL
VPWIEDCKAKMSELRVTLDPVQLESSLLRSKAMLNEVEKRRSLLEILNSAADILINSSEA
DEDGIRDEKAGINQNMDAVTEELQAKTGSLEEMTQRLREFQESFKNIEKKVEGAKHQLEI
FDALGSQACSNKNLEKLRAQQEVLQALEPQVDYLRNFTQGLVEDAPDGSDASQLLHQAEV
AQQEFLEVKQRVNSGCVMMENKLEGIGQFHCRVREMFSQLADLDDELDGMGAIGRDTDSL
QSQIEDVRLFLNKIHVLKLDIEASEAECRHMLEEEGTLDLLGLKRELEALNKQCGKLTER
GKARQEQLELTLGRVEDFYRKLKGLNDATTAAEEAEALQWVVGTEVEIINQQLADFKMFQ
KEQVDPLQMKLQQVNGLGQGLIQSAGKDCDVQGLEHDMEEINARWNTLNKKVAQRIAQLQ
EALLHCGKFQDALEPLLSWLADTEELIANQKPPSAEYKVVKAQIQEQKLLQRLLDDRKAT
VDMLQAEGGRIAQSAELADREKITGQLESLESRWTELLSKAAARQKQLEDILVLAKQFHE
TAEPISDFLSVTEKKLANSEPVGTQTAKIQQQIIRHKALNEEIVNRKKNVDQAIKNGQAL
LKQTTGEEVLLIQEKLDGIKTRYADITVTSSKALRTLEQARQLATKFQSTYEELTGWLRE
VEEELATSGGQSPTGEQIPQFQQRQKELKKEVMEHRLVLDTVNEVSRALLELVPWRAREG
LDKLVSDANEQYKLVSDTIGQRVDEIDAAIQRSQQYEQAADAELAWVAETKRKLMALGPI
RLEQDQTTAQLQVQKAFSIDIIRHKDSMDELFSHRSEIFGTCGEEQKTVLQEKTESLIQQ
YEAISLLNSERYARLERAQVLVNQFWETYEELSPWIEETRALIAQLPSPAIDHEQLRQQQ
EEMRQLRESIAEHKPHIDKLLKIGPQLKELNPEEGEMVEEKYQKAENMYAQIKEEVRQRA
LALDEAVSQSTQITEFHDKIEPMLETLENLSSRLRMPPLIPAEVDKIRECISDNKSATVE
LEKLQPSFEALKRRGEELIGRSQGADKDLAAKEIQDKLDQMVFFWEDIKARAEEREIKFL
DVLELAEKFWYDMAALLTTIKDTQDIVHDLESPGIDPSIIKQQVEAAETIKEETDGLHEE
LEFIRILGADLIFACGETEKPEVRKSIDEMNNAWENLNKTWKERLEKLEDAMQAAVQYQD
TLQAMFDWLDNTVIKLCTMPPVGTDLNTVKDQLNEMKEFKVEVYQQQIEMEKLNHQGELM
LKKATDETDRDIIREPLTELKHLWENLGEKIAHRQHKLEGALLALGQFQHALEELMSWLT
HTEELLDAQRPISGDPKVIEVELAKHHVLKNDVLAHQATVETVNKAGNELLESSAGDDAS
SLRSRLEAMNQCWESVLQKTEEREQQLQSTLQQAQGFHSEIEDFLLELTRMESQLSASKP
TGGLPETAREQLDTHMELYSQLKAKEETYNQLLDKGRLMLLSRDDSGSGSKTEQSVALLE
QKWHVVSSKMEERKSKLEEALNLATEFQNSLQEFINWLTLAEQSLNIASPPSLILNTVLS
QIEEHKVFANEVNAHRDQIIELDQTGNQLKFLSQKQDVVLIKNLLVSVQSRWEKVVQRSI
ERGRSLDDARKRAKQFHEAWKKLIDWLEDAESHLDSELEISNDPDKIKLQLSKHKEFQKT
LGGKQPVYDTTIRTGRALKEKTLLPEDSQKLDNFLGEVRDKWDTVCGKSVERQHKLEEAL
LFSGQFMDALQALVDWLYKVEPQLAEDQPVHGDLDLVMNLMDAHKVFQKELGKRTGTVQV
LKRSGRELIENSRDDTTWVKGQLQELSTRWDTVCKLSVSKQSRLEQALKQAEVFRDTVHM
LLEWLSEAEQTLRFRGALPDDTEALQSLIDTHKEFMKKVEEKRVDVNSAVAMGEVILAVC
HPDCITTIKHWITIIRARFEEVLTWAKQHQQRLETALSELVANAELLEELLAWIQWAETT
LIQRDQEPIPQNIDRVKALIAEHQTFMEEMTRKQPDVDRVTKTYKRKNIEPTHAPFIEKS
RSGGRKSLSQPTPPPMPILSQSEAKNPRINQLSARWQQVWLLALERQRKLNDALDRLEEL
KEFANFDFDVWRKKYMRWMNHKKSRVMDFFRRIDKDQDGKITRQEFIDGILASKFPTTKL
EMTAVADIFDRDGDGYIDYYEFVAALHPNKDAYRPTTDADKIEDEVTRQVAQCKCAKRFQ
VEQIGENKYRFGDSQQLRLVRILRSTVMVRVGGGWMALDEFLVKNDPCRARGRTNIELRE
KFILPEGASQGMTPFRSRGRRSKPSSRAASPTRSSSSASQSNHSCTSMPSSPATPASGTK
VIPSSGSKLKRPTPTFHSSRTSLAGDTSNSSSPASTGAKTNRADPKKSASRPGSRAGSRA
GSRASSRRGSDASDFDLLETQSACSDTSESSAAGGQGNSRRGLNKPSKIPTMSKKTTTAS
PRTPGPKR

Sequence length

7388

O94854

Protein name

Microtubule-actin cross-linking factor 1, isoforms 6/7 (Uncharacterized protein KIAA0754)

Family and domains

Sequence

MPPNFPEFAERIEASLSEVSEAGASNPSLQEKKESSSALTESSGHLDHREPQSESVTLEH
VSKSIGIPEVQDFKNLSGDCQDFRFQQHSANPPHEFQPVESEAVATSGNTDVMQESRFSS
ATWPRATKSLAKGGFSEKQHPLGDTACTVEMPPLSPCLSEELLDPELHVLITPSLREKTE
SELKFEEDERWIMMEAEGEWEEEKLSDREKTFLMADEKNSLADIFEEREQANTAVVEDGS
DCLAAVLRTFGHLSLGQICCPDDPQPAKDQLATVPKDIPLDCDCVLTGEDILGEVANRTA
QGLEGLVSDSACTVGTIDAEQLSDTDSVQMFLELEKECLCEEGVTPLVELQNQISSEGLA
ASQDAENLLVISHFSGAALEKEQHLGLLHVRAKDYDTRLDCGYFNTLDSSQVPNAVELIA
HVDIMRDTSTVSKEECEKVPFSPRTAEFKSRQPADLDSLEKLDPGGLLNSDHRVSHEEKL
SGFIASELAKDNGSLSQGDCSQTEGNGEECIERVTFSFAFNHELTDVTSGPEVEVLYESN
LLTDEIHLESGNVTVNQENNSLTSMGNVVTCELSVEKVCDEDGEAKELDYQATLLEDQAP
AHFHRNFPEQVFQDLQRKSPESEILSLHLLVEELRLNPDGVETVNDTKPELNVASSEGGE
MERRDSDSFLNIFPEKQVTKAGNTEPVLEEWIPVLQRPSRTAAVPTVKDALDAALPSPEE
GTSIAAVPAPEGTAVVAALVPFPHEDILVASIVSLEEEDVTAAAVSAPERATVPAVTVSV
PEGTAAVAAVSSPEETAPAVAAAITQEGMSAVAGFSPEWAALAITVPITEEDGTPEGPVT
PATTVHAPEEPDTAAVRVSTPEEPASPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPPP
EEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAAAVPTPEEPTSPAA
AVPTPEEPTSPAAAVPTPEEPASPAAAVPTPEEPASPAAAVPTPEEPAFPAPAVPTPEES
ASAAVAVPTPEESASPAAAVPTPAESASFAAVVATLEEPTSPAASVPTPAAMVATLEEFT
SPAASVPTSEEPASLAAAVSNPEEPTSPAAAVPTLEEPTSSAAAVLTPEELSSPAASVPT
PEEPASPAAAVSNLEEPASPAAAVPTPEVAAIPAASVPTPEVPAIPAAAVPPMEEVSPIG
VPFLGVSAHTDSVPISEEGTPVLEEASSTGMWIKEDLDSLVFGIKEVTSTVLHGKVPLAA
TAGLNSDEVIVHFDSGKGLKSKVRFAGLTWW

Sequence length

1291

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lissencephaly	Likely pathogenic; Pathogenic	rs1488808726, rs1557668270	RCV000714230 RCV002227490	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly 9 with complex brainstem malformation	Likely pathogenic; Pathogenic	rs2148401189, rs2148518682, rs1644602877, rs2124125451, rs766558667, rs2523390651, rs1307065903, rs2523351526, rs2523048155, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520	RCV002221924 RCV002250100 RCV002262168 RCV002273310 RCV003142541 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
lissencephaly with brainstem hypoplasia	Pathogenic; Likely pathogenic	rs1557668270, rs1557670503, rs1557670515, rs1557670520	RCV001291259 RCV001291260 RCV001291261 RCV001291262	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly with decussation defect	Pathogenic; Likely pathogenic	rs1557668270, rs1557670503, rs1557670515, rs1557670520	RCV000714225 RCV000714226 RCV000714227 RCV000714228	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic	rs755081350	RCV000736161	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (43)

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.
Abnormal corpus callosum morphology	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity; 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; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial hemangioma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated unilateral hemispheric cerebellar hypoplasia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SPECTRUM DISORDER WITH COMPLEX BRAINSTEM MALFORMATION	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACF1-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spectraplakinopathy type I	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27207650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36207684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	39781307, 40350249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	39781307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	31709715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	32143362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27959385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	30471716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28782898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35589867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24504440, 39871215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39781307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28541346, 28695897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27207650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27207650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27207650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	30471716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	30471716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30519591	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23160641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23160641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28869590, 29632382, 30054458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	31190668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31190668, 39781307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27959385, 28782898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27959385, 28782898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24899269		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyalinosis, Systemic	Hyalinosis	BEFREE	28715540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	40603987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	40350249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	16815997, 30471716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	30530289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	GENOMICS_ENGLAND_DG	16815997, 30471716		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	BEFREE	30471716		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	CLINVAR_DG	30471716		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	Pubtator	30471716, 40350249	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Neoplasms	Lung neoplasms	Pubtator	21041478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33737492	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28782898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27207650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28577926, 28673583, 28782898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27207650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	37721175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	30842214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28782898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32143362, 39781307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28579452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28579452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28577926, 31260729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32143362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32925750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27021023, 28577926, 28579452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	31570735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	Lissencephaly With Complex Brainstem Malformation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24504440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28577926, 28579452, 30471716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	30471716	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	39781307, 40350249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29351916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36672824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28541346		★★★★★ ★☆☆☆☆ Found in Text Mining only

MACF1 (microtubule actin crosslinking factor 1)