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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50628
Gene name	Gem nuclear organelle associated protein 4
Gene symbol	GEMIN4
Synonyms (NCBI Gene)	HC56HCAP1HHRF-1NEDMCRp97
Chromosome	17
Chromosome location	17p13.3
Summary	The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes requi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730882219	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant

167

Show/Hide all (167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005881	hsa-miR-342-3p	Luciferase reporter assayNorthern blotqRT-PCR	21172025
MIRT032030	hsa-miR-16-5p	Proteomics	18668040
MIRT049997	hsa-miR-28-5p	CLASH	23622248
MIRT043366	hsa-miR-331-3p	CLASH	23622248
MIRT041966	hsa-miR-484	CLASH	23622248
MIRT041307	hsa-miR-193b-3p	CLASH	23622248
MIRT723574	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT723573	hsa-miR-6854-5p	HITS-CLIP	19536157
MIRT723572	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT723571	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723570	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT005881	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT723569	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT685076	hsa-miR-512-5p	HITS-CLIP	23313552
MIRT685075	hsa-miR-510-5p	HITS-CLIP	23313552
MIRT685074	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT685073	hsa-miR-3929	HITS-CLIP	23313552
MIRT685072	hsa-miR-4419b	HITS-CLIP	23313552
MIRT685071	hsa-miR-4478	HITS-CLIP	23313552
MIRT685070	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT685069	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT685068	hsa-miR-5690	HITS-CLIP	23313552
MIRT685067	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685066	hsa-miR-4459	HITS-CLIP	23313552
MIRT685065	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT685064	hsa-miR-3664-3p	HITS-CLIP	23313552
MIRT685063	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT685062	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT685061	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT685060	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT685059	hsa-miR-6134	HITS-CLIP	23313552
MIRT685058	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT685057	hsa-miR-6894-5p	HITS-CLIP	23313552
MIRT685056	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT685055	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT685054	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT685053	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT685052	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT685051	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT685050	hsa-miR-4433a-5p	HITS-CLIP	23313552
MIRT685049	hsa-miR-1233-5p	HITS-CLIP	23313552
MIRT685048	hsa-miR-6778-5p	HITS-CLIP	23313552
MIRT685047	hsa-miR-7977	HITS-CLIP	23313552
MIRT685046	hsa-miR-937-5p	HITS-CLIP	23313552
MIRT685045	hsa-miR-627-5p	HITS-CLIP	23313552
MIRT685044	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT685043	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT685042	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT685041	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT685040	hsa-miR-3689c	HITS-CLIP	23313552
MIRT685039	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT685038	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT685037	hsa-miR-4433b-5p	HITS-CLIP	23313552
MIRT685036	hsa-miR-8081	HITS-CLIP	23313552
MIRT685035	hsa-miR-4646-3p	HITS-CLIP	23313552
MIRT685034	hsa-miR-665	HITS-CLIP	23313552
MIRT440578	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT440578	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT723574	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT723573	hsa-miR-6854-5p	HITS-CLIP	19536157
MIRT723572	hsa-miR-6715a-3p	HITS-CLIP	19536157
MIRT723571	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT723570	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT005881	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT723569	hsa-miR-6715b-3p	HITS-CLIP	19536157
MIRT685076	hsa-miR-512-5p	HITS-CLIP	23313552
MIRT685075	hsa-miR-510-5p	HITS-CLIP	23313552
MIRT685074	hsa-miR-4695-5p	HITS-CLIP	23313552
MIRT685073	hsa-miR-3929	HITS-CLIP	23313552
MIRT685072	hsa-miR-4419b	HITS-CLIP	23313552
MIRT685071	hsa-miR-4478	HITS-CLIP	23313552
MIRT685070	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT685069	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT685068	hsa-miR-5690	HITS-CLIP	23313552
MIRT685067	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT685066	hsa-miR-4459	HITS-CLIP	23313552
MIRT685065	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT685064	hsa-miR-3664-3p	HITS-CLIP	23313552
MIRT685063	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT685062	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT685061	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT685060	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT685059	hsa-miR-6134	HITS-CLIP	23313552
MIRT685058	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT685057	hsa-miR-6894-5p	HITS-CLIP	23313552
MIRT685056	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT685055	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT685054	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT685053	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT685052	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT685051	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT685050	hsa-miR-4433a-5p	HITS-CLIP	23313552
MIRT685049	hsa-miR-1233-5p	HITS-CLIP	23313552
MIRT685048	hsa-miR-6778-5p	HITS-CLIP	23313552
MIRT685047	hsa-miR-7977	HITS-CLIP	23313552
MIRT685046	hsa-miR-937-5p	HITS-CLIP	23313552
MIRT685045	hsa-miR-627-5p	HITS-CLIP	23313552
MIRT685044	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT685043	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT685042	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT685041	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT685040	hsa-miR-3689c	HITS-CLIP	23313552
MIRT685039	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT685038	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT685037	hsa-miR-4433b-5p	HITS-CLIP	23313552
MIRT685036	hsa-miR-8081	HITS-CLIP	23313552
MIRT685035	hsa-miR-4646-3p	HITS-CLIP	23313552
MIRT685034	hsa-miR-665	HITS-CLIP	23313552
MIRT1016139	hsa-miR-1265	CLIP-seq
MIRT1016140	hsa-miR-127-5p	CLIP-seq
MIRT1016141	hsa-miR-145	CLIP-seq
MIRT1016142	hsa-miR-2392	CLIP-seq
MIRT1016143	hsa-miR-3148	CLIP-seq
MIRT1016144	hsa-miR-3688-3p	CLIP-seq
MIRT1016145	hsa-miR-3942-3p	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016147	hsa-miR-4256	CLIP-seq
MIRT1016148	hsa-miR-4326	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016150	hsa-miR-4659a-5p	CLIP-seq
MIRT1016151	hsa-miR-4659b-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	CLIP-seq
MIRT1016153	hsa-miR-4716-5p	CLIP-seq
MIRT1016154	hsa-miR-4722-3p	CLIP-seq
MIRT1016155	hsa-miR-4769-3p	CLIP-seq
MIRT1016156	hsa-miR-4776-3p	CLIP-seq
MIRT1016157	hsa-miR-4786-3p	CLIP-seq
MIRT1016158	hsa-miR-653	CLIP-seq
MIRT2000810	hsa-miR-1184	CLIP-seq
MIRT2000811	hsa-miR-1205	CLIP-seq
MIRT2000812	hsa-miR-3158-5p	CLIP-seq
MIRT2000813	hsa-miR-3166	CLIP-seq
MIRT2000814	hsa-miR-3182	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016147	hsa-miR-4256	CLIP-seq
MIRT2000815	hsa-miR-4258	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	CLIP-seq
MIRT1016153	hsa-miR-4716-5p	CLIP-seq
MIRT2000816	hsa-miR-4771	CLIP-seq
MIRT2000817	hsa-miR-544	CLIP-seq
MIRT1016140	hsa-miR-127-5p	CLIP-seq
MIRT2234281	hsa-miR-137	CLIP-seq
MIRT2234282	hsa-miR-2113	CLIP-seq
MIRT2234283	hsa-miR-23a	CLIP-seq
MIRT2234284	hsa-miR-23b	CLIP-seq
MIRT2234285	hsa-miR-23c	CLIP-seq
MIRT2234286	hsa-miR-3138	CLIP-seq
MIRT2234287	hsa-miR-3607-3p	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016147	hsa-miR-4256	CLIP-seq
MIRT2234288	hsa-miR-4520a-3p	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016150	hsa-miR-4659a-5p	CLIP-seq
MIRT1016151	hsa-miR-4659b-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	CLIP-seq
MIRT1016153	hsa-miR-4716-5p	CLIP-seq
MIRT1016154	hsa-miR-4722-3p	CLIP-seq
MIRT2234289	hsa-miR-4752	CLIP-seq
MIRT1016155	hsa-miR-4769-3p	CLIP-seq
MIRT1016156	hsa-miR-4776-3p	CLIP-seq
MIRT1016157	hsa-miR-4786-3p	CLIP-seq
MIRT2234290	hsa-miR-4800-5p	CLIP-seq
MIRT1016158	hsa-miR-653	CLIP-seq
MIRT1016146	hsa-miR-423-3p	CLIP-seq
MIRT1016149	hsa-miR-4645-5p	CLIP-seq
MIRT1016152	hsa-miR-4673	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000387	Process	Spliceosomal snRNP assembly	EXP	12067652
GO:0000387	Process	Spliceosomal snRNP assembly	IBA
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000387	Process	Spliceosomal snRNP assembly	IEA
GO:0005515	Function	Protein binding	IPI	11714716, 12869526, 17178713, 19750007, 21988832, 23752268, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	10725331
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	10725331
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10725331
GO:0005829	Component	Cytosol	IDA	18984161, 20513430
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	TAS	10725331
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IDA	10725331
GO:0016020	Component	Membrane	HDA	19946888
GO:0016604	Component	Nuclear body	IDA
GO:0030532	Component	Small nuclear ribonucleoprotein complex	TAS	10725331
GO:0032797	Component	SMN complex	IBA
GO:0032797	Component	SMN complex	IDA	17178713, 18984161
GO:0032797	Component	SMN complex	IEA
GO:0032797	Component	SMN complex	IPI	17178713
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	10725331
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097504	Component	Gemini of Cajal bodies	IEA

MIM	HGNC	e!Ensembl
606969	15717	ENSG00000179409

P57678

Protein name

Gem-associated protein 4 (Gemin-4) (Component of gems 4) (p97)

Protein function

The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set

Family and domains

Sequence

MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHS
QPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLE
ASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLS
QFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCAL
ANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNAT
LYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHME
VCYIFASEKKWAFSDEWVACLGSNRALFRQPDLVLRLLETVIDVSTADRAIPESQIRQVI
HLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQ
GLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSA
TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFL
RLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRC
LSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEG
HFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDV
GNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAA
GPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNP
SVSSLLQRAHEQRFLKSIAEGIGPEERRQTLLQKMSSF

Sequence length

1058

Interactions

View interactions

	Reactome
			snRNP Assembly

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
Developmental cataract	Likely pathogenic; Pathogenic	rs730882219	RCV000162129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs730882219	RCV000162129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs730882219	RCV000162129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	Likely pathogenic; Pathogenic	rs730882219, rs878940028	RCV000590998 RCV002481174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe dystonia	Likely pathogenic; Pathogenic	rs730882219	RCV000162129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GEMIN4-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (91)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25830243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10845931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	10529437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21781992, 24885147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30786668	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27515058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18381463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23629745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22639842, 37507701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10563779, 9258449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24676133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18381463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27669275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19047128	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19047128, 20732906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27878435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	35052432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16905170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	26655237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16905170, 25830243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27107574, 35384865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19047128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20116073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	22694265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35052432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19138993, 24916311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19138993, 24916311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19138993	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	18260132, 20512113, 21781992, 22579784, 24878061, 28303975, 29804830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	BEFREE	28939772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35052432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14603441, 24676133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27669275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26112410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	20414249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30664664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23629745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19138993, 24916311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	14603441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27669275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22506892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18381463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14603441, 1651587, 21383145, 24878061, 25685910, 26555175, 27086594, 28451587, 28819009, 28847819, 29211715, 30830772, 31316150, 7927871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23763827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16905170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30664664		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10563779, 2419904, 28380302, 3754536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22694265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35052432	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28843399, 28878026, 30954557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	16301532, 18675250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	27221928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	21781992, 22579784, 24196964, 26112410, 27753622, 28303975, 28512218, 28819009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25830243, 28380302, 28819009, 6326658, 7927871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35052432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30584095, 31701538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24878061, 31316150, 31550150		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	GENOMICS_ENGLAND_DG	25558065, 27878435		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	UNIPROT_DG	25558065, 30237576		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES	Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteitis Deformans	Paget disease	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009, 30335548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21118967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	28843399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28843399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	28451587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20116073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22506892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22506892, 32343676, 34445492, 36443337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19047128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23015298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	16301532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	LHGDN	16301532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26655237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24770678, 24916311, 29226993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31705877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38401326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	26471729		★★★★★ ★☆☆☆☆ Found in Text Mining only

GEMIN4 (gem nuclear organelle associated protein 4)