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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8842
Gene name	Prominin 1
Gene symbol	PROM1
Synonyms (NCBI Gene)	AC133CD133CORD12MCDR2MSTP061PROML1RP41STGD4
Chromosome	4
Chromosome location	4p15.32
Summary	This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutatio

Show/Hide all (36)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853005	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs137853006	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137853907	G>T	Pathogenic	Stop gained, coding sequence variant
rs185335345	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201644238	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs372513650	C>G	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs373331232	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs373680665	C>A	Pathogenic	Splice acceptor variant
rs374017889	G>A	Pathogenic	Coding sequence variant, stop gained
rs375986111	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs530749007	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs543698823	->A	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs745495162	C>A,G,T	Likely-pathogenic	Splice donor variant
rs745704627	C>T	Pathogenic	Splice donor variant
rs746174328	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs747512450	G>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs752619497	C>T	Likely-pathogenic	Splice acceptor variant
rs762078182	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766246531	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766357803	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs775957498	A>G	Likely-pathogenic	Splice donor variant
rs780697796	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs796051882	T>C	Pathogenic	Intron variant
rs878853400	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886037612	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037880	A>T	Pathogenic	Coding sequence variant, stop gained
rs886037881	ACAGGGAAAC>-	Pathogenic	Intron variant
rs1196489060	C>T	Likely-pathogenic	Intron variant
rs1210104601	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1300041533	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1355802816	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1460604134	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553901823	C>T	Likely-pathogenic	Splice donor variant
rs1560449207	C>A	Pathogenic	Stop gained, coding sequence variant
rs1578054973	GTTGCTA>CTCTAAGCCAG	Pathogenic	Coding sequence variant, frameshift variant
rs1578097528	A>T	Likely-pathogenic	Splice donor variant

Show/Hide all (91)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021645	hsa-miR-142-3p	Reporter assay	21394831
MIRT021645	hsa-miR-142-3p	Luciferase reporter assayWestern blot	23619912
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT731955	hsa-miR-200b-5p	Luciferase reporter assay	28362995
MIRT731955	hsa-miR-200b-5p	Luciferase reporter assay	28362995
MIRT735967	hsa-miR-30a-5p	Immunohistochemistry (IHC)qRT-PCR	32791518
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT1265068	hsa-miR-200b	CLIP-seq
MIRT1265069	hsa-miR-200c	CLIP-seq
MIRT1265070	hsa-miR-2909	CLIP-seq
MIRT1265071	hsa-miR-3162-5p	CLIP-seq
MIRT1265072	hsa-miR-337-3p	CLIP-seq
MIRT1265073	hsa-miR-369-3p	CLIP-seq
MIRT1265074	hsa-miR-374a	CLIP-seq
MIRT1265075	hsa-miR-374b	CLIP-seq
MIRT1265076	hsa-miR-429	CLIP-seq
MIRT1265077	hsa-miR-579	CLIP-seq
MIRT1265078	hsa-miR-888	CLIP-seq
MIRT2077918	hsa-miR-1305	CLIP-seq
MIRT2077919	hsa-miR-29a	CLIP-seq
MIRT2077920	hsa-miR-29b	CLIP-seq
MIRT2077921	hsa-miR-29c	CLIP-seq
MIRT2077922	hsa-miR-3065-3p	CLIP-seq
MIRT2077923	hsa-miR-421	CLIP-seq
MIRT2077924	hsa-miR-4709-5p	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
DNMT1	Unknown	20196115
HOXB4	Unknown	15735039
MYC	Unknown	22945648
SP1	Unknown	22945648
SRY	Unknown	21947321

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0005515	Function	Protein binding	IPI	18654668, 23084749, 24556617
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005783	Component	Endoplasmic reticulum	IDA	24556617
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	24556617
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005886	Component	Plasma membrane	IDA	12042327, 24556617
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9389720
GO:0005902	Component	Microvillus	IBA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	16809613, 19384922
GO:0010842	Process	Retina layer formation	ISS
GO:0015485	Function	Cholesterol binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0031528	Component	Microvillus membrane	IEA
GO:0031982	Component	Vesicle	HDA	19190083
GO:0042622	Component	Photoreceptor outer segment membrane	IDA	18654668
GO:0042805	Function	Actinin binding	IDA	18654668
GO:0042995	Component	Cell projection	IEA
GO:0045296	Function	Cadherin binding	IPI	18654668
GO:0045494	Process	Photoreceptor cell maintenance	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	18654668
GO:0060042	Process	Retina morphogenesis in camera-type eye	IMP	18654668
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	IBA
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	IMP	18654668
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0071914	Component	Prominosome	IBA
GO:0072112	Process	Podocyte differentiation	IMP	19092120
GO:0072139	Process	Glomerular parietal epithelial cell differentiation	IMP	19092120
GO:2000768	Process	Positive regulation of nephron tubule epithelial cell differentiation	IMP	16885410

MIM	HGNC	e!Ensembl
604365	9454	ENSG00000007062

O43490

Protein name

Prominin-1 (Antigen AC133) (Prominin-like protein 1) (CD antigen CD133)

Protein function

May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05478	Prominin	18 → 820	Prominin	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also ex

Sequence

MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVH
IFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFI
ILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVAN
HQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGG
ILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRS
SLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQG
YQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYI
HRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGG
VFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEY
YLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELES
LKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANS
LPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASL
DFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVD
VFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNME
NGNNGYHKDHVYGIHNPVMTSPSQH

Sequence length

865

Interactions

View interactions

	KEGG
	Transcriptional misregulation in cancer

852

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs543698823, rs768303070, rs137853907	RCV001257789 RCV001257790 RCV001257888
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs886037880, rs886037881, rs1296826479, rs1553901823, rs775957498, rs373680665, rs1355802816, rs1719285721, rs368213921	RCV002267733 RCV002267734 RCV003324707 RCV001199726 RCV001199727 RCV003324540 RCV003324542 RCV001199725 RCV003324549
Cone-rod dystrophy 12	Likely pathogenic; Pathogenic	rs1333833629, rs1733212554, rs1324631413, rs137853907, rs2475275702, rs137853006, rs878853400, rs886037880, rs886037881, rs2475104632, rs373680665, rs543698823, rs766246531, rs373331232, rs1210104601 View all (7 more)	RCV001352997 RCV001353023 RCV005253830 RCV002288584 RCV002289076 RCV000005962 RCV001542528 RCV000240342 RCV000239774 RCV003226085 RCV004586423 RCV000761312 RCV005355783 RCV003236584 RCV000678603 RCV000761332 RCV004796310 RCV003225955 RCV005235496 RCV001198630 RCV001352977 RCV003883533
Cone-rod dystrophy 2	Likely pathogenic; Pathogenic	rs543698823, rs1726238223	RCV001255712 RCV001255713
Isolated macular dystrophy	Pathogenic	rs1304065271	RCV001199728
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs373680665, rs745704627	RCV003324541 RCV003324543
Leber congenital amaurosis 1	Pathogenic; Likely pathogenic	rs1300041533, rs747512450	RCV000855429 RCV000855430
Macular dystrophy	Likely pathogenic; Pathogenic	rs137853006	RCV000787649
PROM1-related disorder	Pathogenic; Likely pathogenic	rs2149068027, rs137853907, rs543698823, rs1460604134, rs1300041533, rs373680665, rs1577845276	RCV004699365 RCV004734647 RCV000779436 RCV004530703 RCV005870936 RCV004536013 RCV005866798
Retinal disorder	Likely pathogenic; Pathogenic	rs137853006, rs543698823	RCV006253451 RCV006436773
Retinal dystrophy	Pathogenic; Likely pathogenic	rs137853907, rs1722855407, rs1459317703, rs1328001825, rs746174328, rs137853005, rs137853006, rs878853400, rs762078182, rs372513650, rs1721714409, rs2475231042, rs200907523, rs543698823, rs766246531 View all (21 more)	RCV000504778 RCV004816833 RCV004816793 RCV002466816 RCV000504956 RCV000210292 RCV000504765 RCV000225433 RCV000225407 RCV000225654 RCV004818411 RCV003890886 RCV003890895 RCV000505153 RCV001073994 RCV000504621 RCV000504986 RCV003889918 RCV001074705 RCV004817970 RCV003889979 RCV004818009 RCV001075335 RCV001075504 RCV001075553 RCV001075075 RCV001075595 RCV001073433 RCV001075023 RCV001075408 RCV001075098 RCV001075126 RCV001075128 RCV001075727 RCV001073944 RCV004813760 RCV004813864
Retinal macular dystrophy type 2	Pathogenic; Likely pathogenic	rs2149078995, rs137853006, rs1721714409, rs373680665, rs766246531, rs752619497, rs1718768311, rs1326022839	RCV003989690 RCV000005961 RCV004691622 RCV004586423 RCV005355783 RCV002497313 RCV003483805 RCV003483804
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs137853005, rs137853006, rs543698823, rs201644238, rs766357803, rs1578097528, rs1302809734, rs1717541693	RCV000504792 RCV001723543 RCV001003127 RCV000504677 RCV000787650 RCV000787651 RCV000787917 RCV001199724
Retinitis pigmentosa 41	Pathogenic; Likely pathogenic	rs1324631413, rs2149113303, rs2149080351, rs2149407830, rs746174328, rs886037612, rs137853005, rs137853006, rs1560532624, rs543698823, rs766246531, rs780697796, rs775957498, rs530749007, rs747512450 View all (8 more)	RCV005253830 RCV001591824 RCV001808087 RCV001808139 RCV000190617 RCV000005958 RCV000005959 RCV002496275 RCV003991387 RCV000987422 RCV000454283 RCV000987427 RCV001592948 RCV000784975 RCV002051900 RCV000987420 RCV000987423 RCV000987424 RCV000987425 RCV002497313 RCV001587222 RCV003483805 RCV003483804
Stargardt disease	Pathogenic; Likely pathogenic	rs1324631413, rs2149234796, rs137853006, rs543698823, rs373680665, rs745704627	RCV002466268 RCV002466272 RCV000787648 RCV002467446 RCV002467454 RCV002466264
Stargardt disease 4	Likely pathogenic; Pathogenic	rs137853006, rs886037880, rs373680665, rs766246531, rs752619497, rs1730403199	RCV000005960 RCV002247690 RCV004586423 RCV005355783 RCV002497313 RCV001199380
Usher syndrome	Pathogenic	rs1560449207	RCV000678600

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance; Benign	rs749377148, rs115060954	RCV005911023 RCV005909455
Colon adenocarcinoma	Benign	rs749014145	RCV005867127
Cone-Rod Dystrophy, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs34269395, rs776360269, rs112952685, rs370477050, rs886059204	RCV000304729 RCV000324335 RCV000302181 RCV000325557 RCV000287210
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs3815344, rs143470288	RCV005886504 RCV005897779
Gastric cancer	Benign	rs115060954	RCV005909456
Macular dystrophy, retinal	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs34269395, rs776360269, rs112952685, rs370477050, rs886059204	RCV000310545 RCV000264638 RCV000266972 RCV000365045 RCV000339818
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs148242593	RCV005892080
Optic atrophy	Conflicting classifications of pathogenicity	rs199727800	RCV004813801
Retinitis Pigmentosa, Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs34269395, rs776360269, rs112952685, rs370477050, rs886059204	RCV000264787 RCV000378966 RCV000359246 RCV000389475 RCV000309550
Stargardt Disease, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs34269395, rs776360269, rs112952685, rs370477050, rs886059204	RCV000359498 RCV000377929 RCV000305762 RCV000270462 RCV000401786

Show/Hide Text Mining Associations (260)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Stimulate	21362081
Abortion Spontaneous	Associate	20859302
Adenocarcinoma	Associate	18754869, 22072879, 23071857, 25256670, 26191258, 27069317, 27285762
Adenocarcinoma of Lung	Associate	21228926, 22529186, 24528019, 26471868, 35087112
Adenoma	Associate	28190751
Adjustment Disorders	Associate	35186145
Albuminuria	Inhibit	31869243
Amyotrophic Lateral Sclerosis	Associate	23341441
Aneuploidy	Associate	19875502
Antiphospholipid Syndrome	Stimulate	32414170
Ascites	Associate	22080056, 31336813, 31899997
Astrocytoma	Associate	24900981, 28137267, 30248046, 31677196
Ataxia Telangiectasia	Associate	31127889
Atherosclerosis	Associate	22855739
Atrophy	Associate	20042663
Barrett Esophagus	Associate	24714516, 27069317
Biliary Tract Neoplasms	Associate	31879968
Bone Diseases	Associate	34008001
Brain Neoplasms	Associate	18292095, 18985161, 19018263, 20480407, 21411810, 22265735, 22435486, 26086074, 26163602, 26757925, 28137267, 30717708
Breast Diseases	Associate	32390595
Breast Neoplasms	Associate	21220328, 21914172, 22791584, 23049880, 24330829, 24962344, 28216417, 28399903, 28870198, 29747452, 30091683, 31436297, 31450925, 31947762, 32085795 View all (5 more)
Calcinosis Cutis	Associate	18802032, 25772244, 32759397
Carcinogenesis	Associate	19528487, 20593500, 21412503, 21829201, 22945648, 26029999, 28190751, 30105829, 35798319, 37997289, 38117655
Carcinoid Tumor	Associate	31804333
Carcinoma	Associate	18261235
Carcinoma Adenoid Cystic	Associate	24804195, 28216417, 34791507
Carcinoma Ductal	Associate	25889325
Carcinoma Ductal Breast	Associate	26625750, 32390595, 33112567
Carcinoma Embryonal	Associate	17594720
Carcinoma Endometrioid	Associate	28794448, 28990139
Carcinoma Hepatocellular	Associate	19686584, 19744348, 19842219, 20196115, 20511115, 20596644, 21491582, 21737452, 21909686, 23593389, 24616575, 25311946, 25425463, 25772244, 25973027 View all (30 more)
Carcinoma Hepatocellular	Stimulate	35713728
Carcinoma Intraductal Noninfiltrating	Associate	30497437
Carcinoma Intraductal Noninfiltrating	Stimulate	32390595
Carcinoma Lobular	Associate	27078887
Carcinoma Mucoepidermoid	Associate	28262804
Carcinoma Neuroendocrine	Associate	23615455
Carcinoma Non Small Cell Lung	Associate	15333659, 23170850, 23285214, 23878161, 25256670, 25678473, 25691807, 25783528, 26191258, 26782458, 28827262, 28949784, 29758924, 35087112, 35563313, 36588094 View all (1 more)
Carcinoma Non Small Cell Lung	Stimulate	26261540
Carcinoma Ovarian Epithelial	Associate	25399490, 31899997
Carcinoma Pancreatic Ductal	Associate	12824920, 18261235, 21411814, 21922151, 23071857, 24839953, 26530530, 26597727, 27414409, 28659655, 38471128
Carcinoma Renal Cell	Associate	21281815, 22614155, 26992212, 27812180, 31545459, 33878963, 40650074
Carcinoma Squamous Cell	Associate	24102054
Cardiomyopathies	Associate	30217223
Cardiomyopathy Dilated	Associate	17719840
Cell Transformation Neoplastic	Stimulate	18371181
Cell Transformation Neoplastic	Associate	22945648, 33994850, 35798319, 37439412
Cerebrovascular Disorders	Associate	30321232
Cholangiocarcinoma	Associate	19842219, 21448425, 21798073, 25755719, 29510695, 35312724, 38117655
Choroidal Neovascularization	Associate	40725401
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	39963032
Colonic Neoplasms	Associate	19437567, 19528487, 19583834, 22870594, 23358684, 23709346, 25015560, 28347289, 28358339
Colonic Polyps	Associate	27930579, 35485315
Colorectal Neoplasms	Associate	17594720, 18754869, 18781171, 19030762, 19528487, 20081809, 20219069, 20307308, 20353562, 20433742, 20502714, 20593500, 20606680, 20630067, 20800023 View all (59 more)
Colorectal Neoplasms	Stimulate	27764803, 28261953, 28990068
Colorectal Neoplasms	Inhibit	27983919, 28619275, 33720534
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	25625843
Cone Dystrophy	Associate	20042663
Cone Rod Dystrophies	Associate	19718270, 20393116, 20554613, 20859302, 21496248, 24763286, 26153215, 26702251, 29769798, 31136651, 31199449, 34008001, 35947379
Cone Rod Dystrophy 12	Associate	31836589
Cone Rod Dystrophy 7	Associate	35947379
Corneal Endothelial Cell Loss	Associate	17488657
Coronary Artery Disease	Associate	18929243, 21235297, 22855739
Coronary Disease	Associate	18578002
Cushing's symphalangism	Associate	21228926
Death	Stimulate	22964035
Death	Associate	27461622, 33759958, 34669880
Depressive Disorder	Associate	40170649
Diabetes Gestational	Stimulate	35547007
Diabetes Mellitus	Inhibit	19019194, 31869243
Diabetes Mellitus	Associate	30321232
Diabetes Mellitus Type 2	Inhibit	31869243
Diabetic Nephropathies	Inhibit	31869243
Disease	Associate	31576780
DNA Virus Infections	Associate	27069317
Drug Hypersensitivity	Inhibit	20308310
Drug Related Side Effects and Adverse Reactions	Associate	26992212
Drug Resistant Epilepsy	Associate	30217223
Dyslexia	Associate	20393116
Dysplastic Nevus Syndrome	Associate	20511115
Eccrine Porocarcinoma	Associate	24102054
Endometrial Neoplasms	Associate	23962788, 26868332, 27626172, 28618953, 28794448, 31122521, 31864232, 35186145, 36720532, 39888143
Ependymoma	Associate	23076205
Epilepsy Idiopathic Generalized	Associate	29760280
Epstein Barr Virus Infections	Stimulate	37762374
Esophageal Neoplasms	Associate	25374189
Esophageal Squamous Cell Carcinoma	Associate	23448401, 25374189, 30741466, 36042592
Fetal Macrosomia	Associate	35547007
Fibrosis	Associate	25425463
Focal Cortical Dysplasia	Associate	16302851
Fragile X Syndrome	Associate	15649335
Frontotemporal Dementia	Associate	31619711
Fuchs' Endothelial Dystrophy	Associate	21757643
Gallbladder Neoplasms	Associate	26318430, 26910892
Gastrointestinal Stromal Tumors	Associate	22076958, 23408993
Glioblastoma	Associate	17140455, 18230189, 19288188, 19372578, 19671863, 20145155, 20308310, 20385361, 20668194, 20735813, 20806346, 21220328, 21411810, 22203689, 22805276 View all (33 more)
Glioblastoma	Stimulate	34066147
Glioma	Associate	17140455, 18398462, 18985161, 19108713, 19823589, 20150367, 20526804, 20735813, 20887676, 20957337, 21712410, 22435486, 22945648, 23340741, 23652300 View all (20 more)
Glomerulonephritis	Inhibit	31869243
Glutaric Acidemia I	Associate	36930890
Glycogen Storage Disease IIIB	Associate	19583834
Glycosuria Renal	Associate	32767964
Graft vs Host Disease	Associate	15911096
HAIR AN syndrome	Associate	32197467
Head and Neck Neoplasms	Associate	23396254
Heart Failure	Associate	19380281
Helicobacter Infections	Associate	37378943
Hemangioblastoma	Associate	16163267
Hemangioma	Associate	16861344, 22717583, 33670362
Hemangioma capillary infantile	Associate	39337249
Hemihyperplasia Isolated	Associate	25120757
Hemostatic Disorders	Associate	30321232
Hepatitis Alcoholic	Associate	40649881
Hepatitis B	Associate	19744348
Hepatitis B Chronic	Associate	25425463
Hepatitis C	Associate	28258914, 29534065
Hypertension	Associate	21757643, 27367286
Hypertensive Retinopathy	Associate	20393116, 35947379
Hypoxia	Stimulate	18985161, 20671264, 22614155, 23340741, 29708435, 30497437
Hypoxia	Associate	27367674, 29492900
Hypoxia Brain	Stimulate	22642602, 29492900
Hypoxia Brain	Associate	31035344
Idiopathic Pulmonary Fibrosis	Stimulate	33925174
Infections	Associate	20859302
Inflammation	Associate	20308310, 27069317, 38287344
Intracranial Arteriovenous Malformations	Associate	20881566
Intracranial Embolism	Associate	27528226
Ischemia	Associate	30217223
Kidney Diseases	Inhibit	31869243
Kidney Tubular Necrosis Acute	Associate	21281815
Kimura Disease	Stimulate	35186145
Laryngeal Neoplasms	Associate	27816053, 29949786
Leber Congenital Amaurosis	Associate	31836589, 37975849
Leukemia	Associate	17140455, 32242051, 33924032, 37536029
Leukemia Lymphocytic Chronic B Cell	Associate	34837909
Leukemia Myeloid Acute	Associate	15345284, 15659725, 16000576, 18061946, 32219447, 36508705, 37536029
Liposarcoma	Associate	34321458
Liver Cirrhosis	Associate	25425463, 29534065
Liver Neoplasms	Associate	26878908
Lung Diseases	Associate	24671051, 33123122
Lung Neoplasms	Associate	18612434, 18728788, 20080668, 23683495, 23959111, 24440048, 24484648, 25256670, 26572130, 26782458, 29758924, 38536434
Lung Neoplasms	Inhibit	23239514
Lupus Erythematosus Systemic	Associate	17764548
Lymphatic Metastasis	Associate	18349830, 20062010, 21054902, 21276138, 22529186, 23170850, 24758564, 25735334, 25889325, 26028069, 26261540, 26625750, 33112567, 33207860
Lymphatic Metastasis	Stimulate	23396254
Lymphoma Non Hodgkin	Associate	30393962, 31677196, 34452555, 34837909
Macular Degeneration	Associate	20393116, 20859302, 34008001, 35947379, 37975849, 39596324
Macular Degeneration	Stimulate	36899935
Macular dystrophy concentric annular	Associate	20393116, 36930890
Macular Dystrophy Retinal 2	Associate	31836589
Malaria Cerebral	Inhibit	19346372
Malignant mesenchymal tumor	Associate	33670362
Marfan Syndrome	Associate	32961817
Medulloblastoma	Associate	18773455, 20480407, 21486962, 23135025, 26261540, 27537345, 39963032
Melanoma	Associate	17143262, 18802032, 19221743, 20062010, 20882037, 22072879, 23318676, 23525090, 25339000, 28125999, 28216417, 35216449, 35282769, 37796710, 38243233, 39459448 View all (1 more)
Meningioma	Associate	22754374, 29131275, 29368320, 32705667
Mesenchymoma	Associate	30272331
Microvascular Angina	Associate	17194713
Mitochondrial Diseases	Stimulate	18985161
Mitral Valve Insufficiency	Associate	23408993
Mouth Neoplasms	Inhibit	35296132
Mouth Neoplasms	Associate	39849873
Multiple Myeloma	Associate	15618473
Muscular Disorders Atrophic	Associate	37322672
Muscular Dystrophy Duchenne	Associate	18493616, 21574524
Myelodysplastic Syndromes	Associate	20662087, 30334347
Myocardial Infarction	Associate	19019194, 28781130
Myocardial Ischemia	Associate	20167338
Myopathy with Giant Abnormal Mitochondria	Associate	18985161
Myopia	Associate	19718270
Negative rheumatoid factor polyarthritis	Associate	22855739
Neoplasm Invasiveness	Stimulate	22246526, 35186145
Neoplasm Invasiveness	Associate	29609538, 32390595, 35295009
Neoplasm Metastasis	Associate	18802032, 20062010, 21914172, 23283439, 23558457, 23593389, 24864242, 25015560, 25399490, 27505247, 27764803, 28125999, 28261953, 29105339, 29970672 View all (10 more)
Neoplasm Metastasis	Stimulate	21448425, 21486962, 25339000, 27226554, 29510695, 31983166
Neoplasms	Associate	12878859, 15333659, 16000576, 17140455, 17298169, 17582641, 18061946, 18230189, 18349830, 18371181, 18612434, 18754869, 18773455, 18802032, 18925963 View all (250 more)
Neoplasms	Stimulate	20487522, 22529186, 23170850, 23201134, 25339000, 30587522, 31393377
Neoplasms	Inhibit	37098074
Neoplasms Basal Cell	Associate	26597727, 27461622
Neoplasms Cystic Mucinous and Serous	Associate	22080056
Nerve Degeneration	Associate	20042663, 31199449
Neurilemmoma	Associate	33222917
Neuroblastoma	Associate	19927294, 20007324, 22886526, 24069378, 27627801, 29322842, 35821262
Neuroectodermal Tumors Primitive	Associate	20480407
Neuroectodermal Tumors Primitive Peripheral	Associate	23319191
Neurologic Manifestations	Associate	20735813
Nonsyndromic Holoprosencephaly	Associate	28781130
Osteosarcoma	Associate	18925963, 18941626, 22870217, 25434862, 28606135, 29970672, 30966832, 36071872
Ovarian Diseases	Associate	22643117, 23874550, 28868628, 34837909
Ovarian Neoplasms	Associate	22080056, 22643117, 23055022, 24793306, 25625843, 26621735, 27837619, 28525846, 30126854, 30401718, 31336813, 32096174, 32242101, 34837909, 35867729, 36768723, 37628927 View all (2 more)
Pancreatic Neoplasms	Associate	18261235, 18349830, 20564084, 25240521, 26458814, 26530530, 26597727, 27367674, 27505247, 33878963
Pancreatitis	Associate	20564084, 36142575
Pancreatitis Chronic	Associate	28659655
Papillary Thyroid Microcarcinoma	Associate	31498560
Parkinson Disease	Stimulate	22382585
Peripheral Arterial Disease	Associate	16456866, 26324152
Peripheral Nervous System Diseases	Associate	20042663, 34008001
Peritonitis	Associate	29328371
Perivascular Epithelioid Cell Neoplasms	Associate	26722497
Pituitary Neoplasms	Associate	36750863
Pleural Effusion Malignant	Associate	23285214
Polycystic Kidney Autosomal Dominant	Stimulate	31018934
Precancerous Conditions	Stimulate	21363915
Precancerous Conditions	Associate	26227219
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24556617
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10583262, 21040219
Prodromal Symptoms	Associate	26191258
Prostate cancer familial	Associate	30328254
Prostatic Neoplasms	Associate	18492237, 19116269, 20531279, 22719071, 23138940, 23450810, 23609451, 24659666, 25450039, 25661993, 26485709, 26636522, 28083789, 30587522, 33910833, 35102615, 36593027, 37378942 View all (3 more)
Prostatic Neoplasms Castration Resistant	Stimulate	21365123
Prostatitis	Associate	23071686, 28083789
Pulmonary Arterial Hypertension	Associate	21258008, 23509326
Pulmonary Disease Chronic Obstructive	Stimulate	37838700
Pyruvate Carboxylase Deficiency Disease	Associate	22384099
Rectal Neoplasms	Associate	20219069, 22246526, 23537343, 32026629, 32891131, 33402494
Recurrence	Associate	26462839
Retinal Cone Dystrophy 1	Associate	31199449
Retinal Degeneration	Associate	28840994, 31199449, 38072963
Retinal Detachment	Associate	37761846
Retinal Diseases	Associate	31576780, 32423767, 37975849, 40724865
Retinal Dysplasia	Associate	35186145, 35485315
Retinal Dystrophies	Associate	19718270, 20393116, 25133751, 27874104, 36191543, 39596324
Retinitis	Associate	40724865
Retinitis Pigmentosa	Associate	20042663, 20393116, 20859302, 27082927, 28076437, 28840994, 29912909, 34008001, 37322672
Retinitis Pigmentosa 41	Associate	31836589
Retinoblastoma	Associate	29162051, 31836589, 39519212
Rhabdomyosarcoma	Associate	22156015, 22408058, 27314299
Salivary Gland Diseases	Associate	24911657
Sarcoma	Associate	27314299
Sarcoma Alveolar Soft Part	Associate	28766250
Schopf Schulz Passarge Syndrome	Associate	24102054
Sialadenitis	Associate	24911657
Skin Neoplasms	Associate	25339000
Small Cell Lung Carcinoma	Stimulate	22825470
Small Cell Lung Carcinoma	Associate	31446534
Spinal Cord Injuries	Associate	24968203
Squamous Cell Carcinoma of Head and Neck	Associate	22119814, 23396254, 24758564, 26537085, 28159935, 29949786, 32176088, 36498950, 38096163, 39849873
Stargardt Disease	Associate	10205271, 24763286, 28050124, 31576780, 33846575, 33988224, 34008001
Stargardt disease 3	Associate	28840994, 36930890
Stargardt disease 4	Associate	31836589
Stomach Diseases	Associate	21054902
Stomach Neoplasms	Associate	20487522, 21054902, 21829201, 23558457, 25339008, 25727099, 26028069, 27489358, 27557490, 29422082, 30061208, 30717708, 31005794, 31217618, 31438772, 34160355, 37378943 View all (2 more)
Supraglottitis	Associate	20407935
Systemic Vasculitis	Associate	26475131
Tachycardia Atrioventricular Nodal Reentry	Associate	32390595
Tarlov Cysts	Associate	31393377
Tertiary Lymphoid Structures	Stimulate	28261953
Thyroid cancer medullary	Associate	19897677, 23201134, 24073856
Thyroid Cancer Papillary	Associate	21151388, 33207860
Thyroid Cancer Papillary	Stimulate	26678979
Thyroid Carcinoma Anaplastic	Associate	18958156, 25755746, 34184083
Thyroid Neoplasms	Associate	24654752, 28817605
Thyroiditis	Associate	39595993
Triple Negative Breast Neoplasms	Associate	21276138, 22626806, 24008095, 24330829, 28870198, 32571264
Tuberculosis Multidrug Resistant	Associate	32203206
Tuberous Sclerosis 1	Associate	22870217, 28030635
Urethral Neoplasms	Associate	32424373
Uterine Cervical Neoplasms	Associate	21804471, 29609538, 32107047, 35295009
Uveal melanoma	Associate	27476775
von Hippel Lindau Disease	Associate	16163267

PROM1 (prominin 1)