Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	128866
Gene name	Charged multivesicular body protein 4B
Gene symbol	CHMP4B
Synonyms (NCBI Gene)	C20orf178CHMP4ACTPP3CTRCT31SNF7SNF7-2Shax1VPS32BVps32-2dJ553F4.4
Chromosome	20
Chromosome location	20q11.22
Summary	This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the so

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203965	A>T	Pathogenic	Coding sequence variant, missense variant
rs118203966	G>A	Pathogenic	Coding sequence variant, missense variant

176 Show/Hide all (176)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019610	hsa-miR-340-5p	Sequencing	20371350
MIRT571464	hsa-miR-6502-3p	PAR-CLIP	20371350
MIRT295820	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT295810	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT295813	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT295811	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT295814	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT295815	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT295816	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT295822	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT571463	hsa-miR-591	PAR-CLIP	20371350
MIRT295819	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT571462	hsa-miR-4468	PAR-CLIP	20371350
MIRT571461	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT295812	hsa-miR-31-3p	PAR-CLIP	20371350
MIRT295818	hsa-miR-3678-3p	PAR-CLIP	20371350
MIRT571464	hsa-miR-6502-3p	PAR-CLIP	20371350
MIRT295820	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT295810	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT295813	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT295811	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT295814	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT295815	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT295816	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT295822	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT571463	hsa-miR-591	PAR-CLIP	20371350
MIRT295819	hsa-miR-4693-3p	PAR-CLIP	20371350
MIRT571462	hsa-miR-4468	PAR-CLIP	20371350
MIRT571461	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT295812	hsa-miR-31-3p	PAR-CLIP	20371350
MIRT295818	hsa-miR-3678-3p	PAR-CLIP	20371350
MIRT890727	hsa-miR-1231	CLIP-seq
MIRT890728	hsa-miR-1245b-3p	CLIP-seq
MIRT890729	hsa-miR-1260	CLIP-seq
MIRT890730	hsa-miR-1260b	CLIP-seq
MIRT890731	hsa-miR-1285	CLIP-seq
MIRT890732	hsa-miR-1290	CLIP-seq
MIRT890733	hsa-miR-135a	CLIP-seq
MIRT890734	hsa-miR-135b	CLIP-seq
MIRT890735	hsa-miR-140-3p	CLIP-seq
MIRT890736	hsa-miR-188-3p	CLIP-seq
MIRT890737	hsa-miR-1913	CLIP-seq
MIRT890738	hsa-miR-1972	CLIP-seq
MIRT890739	hsa-miR-214	CLIP-seq
MIRT890740	hsa-miR-296-5p	CLIP-seq
MIRT890741	hsa-miR-3119	CLIP-seq
MIRT890742	hsa-miR-3120-5p	CLIP-seq
MIRT890743	hsa-miR-3140-3p	CLIP-seq
MIRT890744	hsa-miR-3150b-3p	CLIP-seq
MIRT890745	hsa-miR-3156-3p	CLIP-seq
MIRT890746	hsa-miR-3167	CLIP-seq
MIRT890747	hsa-miR-3187-5p	CLIP-seq
MIRT890748	hsa-miR-3189-5p	CLIP-seq
MIRT890749	hsa-miR-324-3p	CLIP-seq
MIRT890750	hsa-miR-340	CLIP-seq
MIRT890751	hsa-miR-3591-3p	CLIP-seq
MIRT890752	hsa-miR-3619-5p	CLIP-seq
MIRT890753	hsa-miR-3671	CLIP-seq
MIRT890754	hsa-miR-378g	CLIP-seq
MIRT890755	hsa-miR-3925-5p	CLIP-seq
MIRT890756	hsa-miR-421	CLIP-seq
MIRT890757	hsa-miR-4269	CLIP-seq
MIRT890758	hsa-miR-4272	CLIP-seq
MIRT890759	hsa-miR-4481	CLIP-seq
MIRT890760	hsa-miR-4486	CLIP-seq
MIRT890761	hsa-miR-450b-5p	CLIP-seq
MIRT890762	hsa-miR-4528	CLIP-seq
MIRT890763	hsa-miR-4640-5p	CLIP-seq
MIRT890764	hsa-miR-4689	CLIP-seq
MIRT890765	hsa-miR-4690-5p	CLIP-seq
MIRT890766	hsa-miR-4698	CLIP-seq
MIRT890767	hsa-miR-4710	CLIP-seq
MIRT890768	hsa-miR-4717-5p	CLIP-seq
MIRT890769	hsa-miR-4719	CLIP-seq
MIRT890770	hsa-miR-4726-5p	CLIP-seq
MIRT890771	hsa-miR-4745-5p	CLIP-seq
MIRT890772	hsa-miR-4758-3p	CLIP-seq
MIRT890773	hsa-miR-4762-5p	CLIP-seq
MIRT890774	hsa-miR-4784	CLIP-seq
MIRT890775	hsa-miR-508-5p	CLIP-seq
MIRT890776	hsa-miR-516b	CLIP-seq
MIRT890777	hsa-miR-518a-5p	CLIP-seq
MIRT890778	hsa-miR-527	CLIP-seq
MIRT890779	hsa-miR-556-3p	CLIP-seq
MIRT890780	hsa-miR-582-5p	CLIP-seq
MIRT890781	hsa-miR-586	CLIP-seq
MIRT890782	hsa-miR-607	CLIP-seq
MIRT890783	hsa-miR-612	CLIP-seq
MIRT890784	hsa-miR-622	CLIP-seq
MIRT890785	hsa-miR-639	CLIP-seq
MIRT890786	hsa-miR-720	CLIP-seq
MIRT890787	hsa-miR-759	CLIP-seq
MIRT890788	hsa-miR-761	CLIP-seq
MIRT890789	hsa-miR-765	CLIP-seq
MIRT890790	hsa-miR-876-5p	CLIP-seq
MIRT890791	hsa-miR-939	CLIP-seq
MIRT1964024	hsa-miR-1289	CLIP-seq
MIRT890732	hsa-miR-1290	CLIP-seq
MIRT1964025	hsa-miR-198	CLIP-seq
MIRT890739	hsa-miR-214	CLIP-seq
MIRT890746	hsa-miR-3167	CLIP-seq
MIRT1964026	hsa-miR-3198	CLIP-seq
MIRT890752	hsa-miR-3619-5p	CLIP-seq
MIRT1964027	hsa-miR-409-3p	CLIP-seq
MIRT1964028	hsa-miR-4291	CLIP-seq
MIRT1964029	hsa-miR-4294	CLIP-seq
MIRT1964030	hsa-miR-4309	CLIP-seq
MIRT890761	hsa-miR-450b-5p	CLIP-seq
MIRT1964031	hsa-miR-4519	CLIP-seq
MIRT1964032	hsa-miR-4781-3p	CLIP-seq
MIRT890777	hsa-miR-518a-5p	CLIP-seq
MIRT890778	hsa-miR-527	CLIP-seq
MIRT890780	hsa-miR-582-5p	CLIP-seq
MIRT890788	hsa-miR-761	CLIP-seq
MIRT890790	hsa-miR-876-5p	CLIP-seq
MIRT1964033	hsa-miR-922	CLIP-seq
MIRT890737	hsa-miR-1913	CLIP-seq
MIRT2200197	hsa-miR-30a	CLIP-seq
MIRT2200198	hsa-miR-30b	CLIP-seq
MIRT2200199	hsa-miR-30c	CLIP-seq
MIRT2200200	hsa-miR-30d	CLIP-seq
MIRT2200201	hsa-miR-30e	CLIP-seq
MIRT2200202	hsa-miR-3120-3p	CLIP-seq
MIRT890744	hsa-miR-3150b-3p	CLIP-seq
MIRT890748	hsa-miR-3189-5p	CLIP-seq
MIRT890749	hsa-miR-324-3p	CLIP-seq
MIRT890759	hsa-miR-4481	CLIP-seq
MIRT890763	hsa-miR-4640-5p	CLIP-seq
MIRT890764	hsa-miR-4689	CLIP-seq
MIRT890767	hsa-miR-4710	CLIP-seq
MIRT890769	hsa-miR-4719	CLIP-seq
MIRT2200203	hsa-miR-4722-3p	CLIP-seq
MIRT890770	hsa-miR-4726-5p	CLIP-seq
MIRT890771	hsa-miR-4745-5p	CLIP-seq
MIRT890772	hsa-miR-4758-3p	CLIP-seq
MIRT2200204	hsa-miR-4763-5p	CLIP-seq
MIRT890774	hsa-miR-4784	CLIP-seq
MIRT890775	hsa-miR-508-5p	CLIP-seq
MIRT890787	hsa-miR-759	CLIP-seq
MIRT2200205	hsa-miR-935	CLIP-seq
MIRT890791	hsa-miR-939	CLIP-seq
MIRT890732	hsa-miR-1290	CLIP-seq
MIRT890739	hsa-miR-214	CLIP-seq
MIRT2200202	hsa-miR-3120-3p	CLIP-seq
MIRT890746	hsa-miR-3167	CLIP-seq
MIRT890752	hsa-miR-3619-5p	CLIP-seq
MIRT1964027	hsa-miR-409-3p	CLIP-seq
MIRT1964028	hsa-miR-4291	CLIP-seq
MIRT890761	hsa-miR-450b-5p	CLIP-seq
MIRT1964031	hsa-miR-4519	CLIP-seq
MIRT890769	hsa-miR-4719	CLIP-seq
MIRT1964032	hsa-miR-4781-3p	CLIP-seq
MIRT890777	hsa-miR-518a-5p	CLIP-seq
MIRT890778	hsa-miR-527	CLIP-seq
MIRT890788	hsa-miR-761	CLIP-seq
MIRT890790	hsa-miR-876-5p	CLIP-seq
MIRT1964033	hsa-miR-922	CLIP-seq
MIRT2200205	hsa-miR-935	CLIP-seq
MIRT890728	hsa-miR-1245b-3p	CLIP-seq
MIRT2503061	hsa-miR-221	CLIP-seq
MIRT2503062	hsa-miR-222	CLIP-seq
MIRT2503063	hsa-miR-3975	CLIP-seq
MIRT890766	hsa-miR-4698	CLIP-seq
MIRT890776	hsa-miR-516b	CLIP-seq
MIRT890779	hsa-miR-556-3p	CLIP-seq
MIRT890781	hsa-miR-586	CLIP-seq
MIRT2503064	hsa-miR-624	CLIP-seq
MIRT890789	hsa-miR-765	CLIP-seq
MIRT890728	hsa-miR-1245b-3p	CLIP-seq
MIRT890733	hsa-miR-135a	CLIP-seq
MIRT890734	hsa-miR-135b	CLIP-seq
MIRT890766	hsa-miR-4698	CLIP-seq
MIRT890776	hsa-miR-516b	CLIP-seq
MIRT890779	hsa-miR-556-3p	CLIP-seq
MIRT890781	hsa-miR-586	CLIP-seq
MIRT890789	hsa-miR-765	CLIP-seq

93 Show/Hide all (93)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	21310966
GO:0000421	Component	Autophagosome membrane	IDA	17984323
GO:0000776	Component	Kinetochore	IDA	26040712
GO:0000776	Component	Kinetochore	IEA
GO:0000815	Component	ESCRT III complex	IBA
GO:0000815	Component	ESCRT III complex	IDA	18209100, 21310966, 21975012, 24878737, 26040712
GO:0000815	Component	ESCRT III complex	NAS	36107470
GO:0000815	Component	ESCRT III complex	TAS	20588296
GO:0001778	Process	Plasma membrane repair	IDA	24482116
GO:0001778	Process	Plasma membrane repair	IEA
GO:0005515	Function	Protein binding	IPI	12860994, 14505570, 14519844, 16189514, 16730941, 16856878, 17174262, 17500595, 17711858, 18434552, 18511562, 18641129, 19523902, 20208530, 21543490, 21889351, 21975012, 22162750, 22484091, 23051622, 26496610, 32296183, 32814053, 33349255, 34818527, 35271311
GO:0005634	Component	Nucleus	IDA	21975012
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	26040712
GO:0005635	Component	Nuclear envelope	IEA
GO:0005643	Component	Nuclear pore	IDA	26040713
GO:0005643	Component	Nuclear pore	IEA
GO:0005737	Component	Cytoplasm	IDA	17701905, 21975012
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	IDA	17984323
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IDA	17701905
GO:0005768	Component	Endosome	IEA
GO:0005771	Component	Multivesicular body	IBA
GO:0005828	Component	Kinetochore microtubule	IDA	26040712
GO:0005828	Component	Kinetochore microtubule	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	24878737
GO:0006620	Process	Post-translational protein targeting to endoplasmic reticulum membrane	IMP	21975012
GO:0006900	Process	Vesicle budding from membrane	IBA
GO:0006914	Process	Autophagy	IMP	17984323, 24095276
GO:0006914	Process	Autophagy	TAS	21118109
GO:0006997	Process	Nucleus organization	IMP	20616062
GO:0007034	Process	Vacuolar transport	IEA
GO:0007080	Process	Mitotic metaphase chromosome alignment	IEA
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	20616062
GO:0009898	Component	Cytoplasmic side of plasma membrane	IBA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	18209100
GO:0010458	Process	Exit from mitosis	IMP	26040712
GO:0010824	Process	Regulation of centrosome duplication	IMP	20616062
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	TAS	20588296
GO:0030117	Component	Membrane coat	IDA	24878737
GO:0030496	Component	Midbody	IDA	21310966, 22724069, 26040712
GO:0030496	Component	Midbody	IEA
GO:0031468	Process	Nuclear membrane reassembly	IEA
GO:0031468	Process	Nuclear membrane reassembly	IMP	26040712, 26040713
GO:0031902	Component	Late endosome membrane	IEA
GO:0031982	Component	Vesicle	IDA	25468996
GO:0032511	Process	Late endosome to vacuole transport via multivesicular body sorting pathway	IBA
GO:0032585	Component	Multivesicular body membrane	IDA	16554368
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0036258	Process	Multivesicular body assembly	IEA
GO:0036258	Process	Multivesicular body assembly	NAS	16505166
GO:0036258	Process	Multivesicular body assembly	TAS	20588296
GO:0036438	Process	Maintenance of lens transparency	IMP	17701905
GO:0039702	Process	Viral budding via host ESCRT complex	IDA	24878737
GO:0039702	Process	Viral budding via host ESCRT complex	IEA
GO:0039702	Process	Viral budding via host ESCRT complex	IGI	24107264
GO:0039702	Process	Viral budding via host ESCRT complex	TAS	20588296
GO:0042802	Function	Identical protein binding	IPI	16730941, 18209100, 19523902
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	14519844
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA	17984323
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046755	Process	Viral budding	IMP	17701905
GO:0046761	Process	Viral budding from plasma membrane	IDA	24878737
GO:0046761	Process	Viral budding from plasma membrane	IEA
GO:0046761	Process	Viral budding from plasma membrane	IMP	14505570
GO:0050877	Process	Nervous system process	IMP	21975012
GO:0051258	Process	Protein polymerization	IDA	18209100
GO:0051469	Process	Vesicle fusion with vacuole	NAS	16505166
GO:0061763	Process	Multivesicular body-lysosome fusion	NAS	16505166
GO:0061952	Process	Midbody abscission	IEA
GO:0061952	Process	Midbody abscission	IMP	20616062
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0071985	Process	Multivesicular body sorting pathway	IDA	16554368
GO:0071985	Process	Multivesicular body sorting pathway	IEA
GO:0071985	Process	Multivesicular body sorting pathway	IMP	21975012
GO:0090148	Process	Membrane fission	IMP	21310966
GO:0090148	Process	Membrane fission	NAS	19234443
GO:0090611	Process	Ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway	IMP	22547407
GO:0097352	Process	Autophagosome maturation	IEA
GO:0097352	Process	Autophagosome maturation	IMP	17984323
GO:1901673	Process	Regulation of mitotic spindle assembly	IEA
GO:1901673	Process	Regulation of mitotic spindle assembly	IMP	20616062
GO:1902774	Process	Late endosome to lysosome transport	IEA
GO:1902774	Process	Late endosome to lysosome transport	IMP	17984323
GO:1904930	Component	Amphisome membrane	IDA	17984323
GO:1904930	Component	Amphisome membrane	IEA

MIM	HGNC	e!Ensembl
610897	16171	ENSG00000101421

Q9H444

Protein name

Charged multivesicular body protein 4b (Chromatin-modifying protein 4b) (CHMP4b) (SNF7 homolog associated with Alix 1) (SNF7-2) (hSnf7-2) (Vacuolar protein sorting-associated protein 32-2) (Vps32-2) (hVps32-2)

Protein function

Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (IL

PDB

3C3Q , 3UM3 , 4ABM , 5MK2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03357	Snf7	24 → 199	Snf7	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in heart and skeletal muscle. Also expressed in brain, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes. {ECO:0000269|PubMed:14678797}.

Sequence

MSVFGKLFGAGGGKAGKGGPTPQEAIQRLRDTEEMLSKKQEFLEKKIEQELTAAKKHGTK
NKRAALQALKRKKRYEKQLAQIDGTLSTIEFQREALENANTNTEVLKNMGYAAKAMKAAH
DNMDIDKVDELMQDIADQQELAEEISTAISKPVGFGEEFDEDELMAELEELEQEELDKNL
LEISGPETVPLPNVPSIALPSKPAKKKEEEDDDMKELENWAGSM

Sequence length

224

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Viral life cycle - HIV-1	Budding and maturation of HIV virion
Virion - Hepatitis viruses	Macroautophagy
Endocytosis	Endosomal Sorting Complex Required For Transport (ESCRT)
Necroptosis	HCMV Late Events
	Sealing of the nuclear envelope (NE) by ESCRT-III

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
Cataract 31 multiple types	Pathogenic; Likely pathogenic	rs118203965, rs118203966, rs2515543578	RCV000001143 RCV000001144 RCV003602264	★★★★★ ★★★★☆ 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 (38)
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES	—	GWAS catalog	35348614	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 31 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	17701905, 17701915	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 31, MULTIPLE TYPE S	—	HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT, POSTERIOR POLAR, 3	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHMP4B-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	34290314, 38411962	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR POLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	17701905, 17701905	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR SUBCAPSULAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	17701905, 17701905	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar GWAS catalog	34290314	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	32887889, 34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR SUBCAPSULAR CATARACT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30595370, 38374256	★★★★★ ★★☆☆☆ 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 (26)
Anterior subcapsular cataract	Subcapsular cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30669148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37168851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36071875, 36474147, 37464443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	17701905, 24741567, 31404815		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37511188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, posterior polar, 3	Cataract	GENOMICS_ENGLAND_DG	17701905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, posterior polar, 3	Cataract	UNIPROT_DG	17701905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, posterior polar, 3	Cataract	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract, posterior polar, 3	Cataract	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early-onset posterior polar cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset posterior subcapsular cataract	Cataract	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	28819289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	33139753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25874485, 31059752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36871659, 37620327	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	29378961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28207535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polar cataract	Cataract	BEFREE	24741567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	ORPHANET_DG	17701905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior subcapsular cataract	Capsular cataract	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28211531	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FAM83C	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	13	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Melanoma)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)"]
CDK5RAP1	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	12	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Ovarian serous carcinoma)"]
CLK1	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	12	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Ovarian serous carcinoma)"]
TRAK2	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	12	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Ovarian serous carcinoma)"]
RNF19A	11	["Biliary tract cancer","Cancer","Cervical cancer","Endometrial cancer","Esophageal cancer","Estrogen-receptor negative breast cancer","Pancreatic cancer","Gastric cancer","Non-hodgkins lymphoma","Non-melanoma skin carcinoma","Ovarian serous carcinoma"]	[]	12	["GWAS catalog (Biliary tract cancer)","GWAS catalog (Cancer)","GWAS catalog (Cervical cancer)","GWAS catalog (Endometrial cancer)","GWAS catalog (Esophageal cancer)","GWAS catalog (Estrogen-receptor negative breast cancer)","GWAS catalog (Pancreatic cancer)","GWAS catalog (Gastric cancer)","GWAS catalog (Hepatocellular carcinoma)","GWAS catalog (Non-hodgkins lymphoma)","GWAS catalog (Non-melanoma skin carcinoma)","GWAS catalog (Ovarian serous carcinoma)"]

CHMP4B (charged multivesicular body protein 4B)

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