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	57479
Gene name	Proline rich 12
Gene symbol	PRR12
Synonyms (NCBI Gene)	KIAA1205NOC
Chromosome	19
Chromosome location	19q13.33
Summary	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neurops

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1555740394	->ACCACCC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555740650	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555741826	TGCC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051075	hsa-miR-16-5p	CLASH	23622248
MIRT049155	hsa-miR-92a-3p	CLASH	23622248
MIRT047382	hsa-miR-34a-5p	CLASH	23622248
MIRT044430	hsa-miR-320a	CLASH	23622248
MIRT039614	hsa-miR-615-3p	CLASH	23622248
MIRT037713	hsa-miR-744-5p	CLASH	23622248
MIRT521624	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT521622	hsa-miR-4786-5p	PAR-CLIP	23446348
MIRT453557	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT453556	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453554	hsa-miR-4419a	PAR-CLIP	23592263
MIRT453555	hsa-miR-4510	PAR-CLIP	23592263
MIRT453553	hsa-miR-6127	PAR-CLIP	23592263
MIRT453552	hsa-miR-6129	PAR-CLIP	23592263
MIRT453551	hsa-miR-6130	PAR-CLIP	23592263
MIRT453550	hsa-miR-6133	PAR-CLIP	23592263
MIRT453549	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT453548	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT453546	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT453547	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT453545	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT453544	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT453543	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT453542	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT453541	hsa-miR-3175	PAR-CLIP	23592263
MIRT453540	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT453539	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT453538	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453537	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT453535	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT453536	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT453534	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT453533	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT453532	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT453531	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT453530	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT521622	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT521624	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT521624	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT521622	hsa-miR-4786-5p	PAR-CLIP	23446348
MIRT453557	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT453556	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453554	hsa-miR-4419a	PAR-CLIP	23592263
MIRT453555	hsa-miR-4510	PAR-CLIP	23592263
MIRT453553	hsa-miR-6127	PAR-CLIP	23592263
MIRT453552	hsa-miR-6129	PAR-CLIP	23592263
MIRT453551	hsa-miR-6130	PAR-CLIP	23592263
MIRT453550	hsa-miR-6133	PAR-CLIP	23592263
MIRT453549	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT453548	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT453546	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT453547	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT453545	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT453544	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT453543	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT453542	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT453541	hsa-miR-3175	PAR-CLIP	23592263
MIRT453540	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT453539	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT453538	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453537	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT453535	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT453536	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT453534	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT453533	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT453532	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT453531	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT453530	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT1266470	hsa-miR-1275	CLIP-seq
MIRT1266471	hsa-miR-1276	CLIP-seq
MIRT1266472	hsa-miR-128	CLIP-seq
MIRT1266473	hsa-miR-1284	CLIP-seq
MIRT1266474	hsa-miR-1293	CLIP-seq
MIRT1266475	hsa-miR-147	CLIP-seq
MIRT1266476	hsa-miR-1908	CLIP-seq
MIRT1266477	hsa-miR-219-1-3p	CLIP-seq
MIRT1266478	hsa-miR-300	CLIP-seq
MIRT1266479	hsa-miR-3121-3p	CLIP-seq
MIRT1266480	hsa-miR-3151	CLIP-seq
MIRT1266481	hsa-miR-3153	CLIP-seq
MIRT1266482	hsa-miR-3177-5p	CLIP-seq
MIRT1266483	hsa-miR-3180	CLIP-seq
MIRT1266484	hsa-miR-3180-3p	CLIP-seq
MIRT1266485	hsa-miR-3196	CLIP-seq
MIRT1266486	hsa-miR-323-3p	CLIP-seq
MIRT1266487	hsa-miR-323b-5p	CLIP-seq
MIRT1266488	hsa-miR-337-3p	CLIP-seq
MIRT1266489	hsa-miR-34a	CLIP-seq
MIRT1266490	hsa-miR-34c-5p	CLIP-seq
MIRT1266491	hsa-miR-3613-5p	CLIP-seq
MIRT1266492	hsa-miR-3652	CLIP-seq
MIRT1266493	hsa-miR-3685	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT1266496	hsa-miR-376c	CLIP-seq
MIRT1266497	hsa-miR-381	CLIP-seq
MIRT1266498	hsa-miR-384	CLIP-seq
MIRT1266499	hsa-miR-3924	CLIP-seq
MIRT1266500	hsa-miR-4428	CLIP-seq
MIRT1266501	hsa-miR-4430	CLIP-seq
MIRT1266502	hsa-miR-4483	CLIP-seq
MIRT1266503	hsa-miR-4488	CLIP-seq
MIRT1266504	hsa-miR-449a	CLIP-seq
MIRT1266505	hsa-miR-449b	CLIP-seq
MIRT1266506	hsa-miR-4505	CLIP-seq
MIRT1266507	hsa-miR-451b	CLIP-seq
MIRT1266508	hsa-miR-4525	CLIP-seq
MIRT1266509	hsa-miR-4649-5p	CLIP-seq
MIRT1266510	hsa-miR-4665-5p	CLIP-seq
MIRT1266511	hsa-miR-4666-3p	CLIP-seq
MIRT1266512	hsa-miR-4672	CLIP-seq
MIRT1266513	hsa-miR-4697-5p	CLIP-seq
MIRT1266514	hsa-miR-4723-5p	CLIP-seq
MIRT1266515	hsa-miR-4761-5p	CLIP-seq
MIRT1266516	hsa-miR-4779	CLIP-seq
MIRT1266517	hsa-miR-571	CLIP-seq
MIRT1266518	hsa-miR-624	CLIP-seq
MIRT1266519	hsa-miR-625	CLIP-seq
MIRT1266520	hsa-miR-647	CLIP-seq
MIRT1266521	hsa-miR-663	CLIP-seq
MIRT1266522	hsa-miR-765	CLIP-seq
MIRT1266523	hsa-miR-939	CLIP-seq
MIRT2078277	hsa-miR-1197	CLIP-seq
MIRT2078278	hsa-miR-1200	CLIP-seq
MIRT2078279	hsa-miR-1224-5p	CLIP-seq
MIRT1266470	hsa-miR-1275	CLIP-seq
MIRT1266473	hsa-miR-1284	CLIP-seq
MIRT1266474	hsa-miR-1293	CLIP-seq
MIRT1266479	hsa-miR-3121-3p	CLIP-seq
MIRT2078280	hsa-miR-3144-5p	CLIP-seq
MIRT2078281	hsa-miR-3152-3p	CLIP-seq
MIRT1266483	hsa-miR-3180	CLIP-seq
MIRT1266484	hsa-miR-3180-3p	CLIP-seq
MIRT2078282	hsa-miR-3184	CLIP-seq
MIRT1266485	hsa-miR-3196	CLIP-seq
MIRT1266486	hsa-miR-323-3p	CLIP-seq
MIRT1266488	hsa-miR-337-3p	CLIP-seq
MIRT1266489	hsa-miR-34a	CLIP-seq
MIRT1266490	hsa-miR-34c-5p	CLIP-seq
MIRT2078283	hsa-miR-361-3p	CLIP-seq
MIRT2078284	hsa-miR-3679-3p	CLIP-seq
MIRT1266493	hsa-miR-3685	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT1266496	hsa-miR-376c	CLIP-seq
MIRT1266498	hsa-miR-384	CLIP-seq
MIRT1266499	hsa-miR-3924	CLIP-seq
MIRT2078285	hsa-miR-3934	CLIP-seq
MIRT2078286	hsa-miR-423-5p	CLIP-seq
MIRT2078287	hsa-miR-4324	CLIP-seq
MIRT2078288	hsa-miR-4447	CLIP-seq
MIRT2078289	hsa-miR-4462	CLIP-seq
MIRT2078290	hsa-miR-4472	CLIP-seq
MIRT2078291	hsa-miR-4481	CLIP-seq
MIRT1266502	hsa-miR-4483	CLIP-seq
MIRT1266503	hsa-miR-4488	CLIP-seq
MIRT1266504	hsa-miR-449a	CLIP-seq
MIRT1266505	hsa-miR-449b	CLIP-seq
MIRT1266508	hsa-miR-4525	CLIP-seq
MIRT2078292	hsa-miR-4534	CLIP-seq
MIRT2078293	hsa-miR-4640-5p	CLIP-seq
MIRT1266510	hsa-miR-4665-5p	CLIP-seq
MIRT2078294	hsa-miR-4688	CLIP-seq
MIRT2078295	hsa-miR-4694-5p	CLIP-seq
MIRT1266513	hsa-miR-4697-5p	CLIP-seq
MIRT2078296	hsa-miR-4707-5p	CLIP-seq
MIRT2078297	hsa-miR-4713-5p	CLIP-seq
MIRT1266514	hsa-miR-4723-5p	CLIP-seq
MIRT2078298	hsa-miR-4726-3p	CLIP-seq
MIRT2078299	hsa-miR-4726-5p	CLIP-seq
MIRT2078300	hsa-miR-4745-5p	CLIP-seq
MIRT2078301	hsa-miR-4751	CLIP-seq
MIRT1266515	hsa-miR-4761-5p	CLIP-seq
MIRT2078302	hsa-miR-486-3p	CLIP-seq
MIRT2078303	hsa-miR-544b	CLIP-seq
MIRT1266518	hsa-miR-624	CLIP-seq
MIRT1266519	hsa-miR-625	CLIP-seq
MIRT1266523	hsa-miR-939	CLIP-seq
MIRT1266470	hsa-miR-1275	CLIP-seq
MIRT1266473	hsa-miR-1284	CLIP-seq
MIRT1266474	hsa-miR-1293	CLIP-seq
MIRT1266479	hsa-miR-3121-3p	CLIP-seq
MIRT2078281	hsa-miR-3152-3p	CLIP-seq
MIRT2078282	hsa-miR-3184	CLIP-seq
MIRT1266486	hsa-miR-323-3p	CLIP-seq
MIRT2304704	hsa-miR-329	CLIP-seq
MIRT1266488	hsa-miR-337-3p	CLIP-seq
MIRT1266489	hsa-miR-34a	CLIP-seq
MIRT1266490	hsa-miR-34c-5p	CLIP-seq
MIRT2304705	hsa-miR-362-3p	CLIP-seq
MIRT1266493	hsa-miR-3685	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT1266498	hsa-miR-384	CLIP-seq
MIRT1266499	hsa-miR-3924	CLIP-seq
MIRT2078285	hsa-miR-3934	CLIP-seq
MIRT2078286	hsa-miR-423-5p	CLIP-seq
MIRT2078288	hsa-miR-4447	CLIP-seq
MIRT2078290	hsa-miR-4472	CLIP-seq
MIRT2078291	hsa-miR-4481	CLIP-seq
MIRT1266502	hsa-miR-4483	CLIP-seq
MIRT1266503	hsa-miR-4488	CLIP-seq
MIRT1266504	hsa-miR-449a	CLIP-seq
MIRT1266505	hsa-miR-449b	CLIP-seq
MIRT1266508	hsa-miR-4525	CLIP-seq
MIRT2078292	hsa-miR-4534	CLIP-seq
MIRT2078293	hsa-miR-4640-5p	CLIP-seq
MIRT1266510	hsa-miR-4665-5p	CLIP-seq
MIRT2078294	hsa-miR-4688	CLIP-seq
MIRT2078295	hsa-miR-4694-5p	CLIP-seq
MIRT1266513	hsa-miR-4697-5p	CLIP-seq
MIRT1266514	hsa-miR-4723-5p	CLIP-seq
MIRT2078298	hsa-miR-4726-3p	CLIP-seq
MIRT2078299	hsa-miR-4726-5p	CLIP-seq
MIRT2078300	hsa-miR-4745-5p	CLIP-seq
MIRT1266515	hsa-miR-4761-5p	CLIP-seq
MIRT2078302	hsa-miR-486-3p	CLIP-seq
MIRT1266518	hsa-miR-624	CLIP-seq
MIRT1266519	hsa-miR-625	CLIP-seq
MIRT2601787	hsa-miR-146b-3p	CLIP-seq
MIRT2601788	hsa-miR-3173-5p	CLIP-seq
MIRT2601789	hsa-miR-4254	CLIP-seq
MIRT2601790	hsa-miR-4308	CLIP-seq
MIRT2601791	hsa-miR-874	CLIP-seq
MIRT2601787	hsa-miR-146b-3p	CLIP-seq
MIRT2601788	hsa-miR-3173-5p	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT2601789	hsa-miR-4254	CLIP-seq
MIRT2601790	hsa-miR-4308	CLIP-seq
MIRT2078302	hsa-miR-486-3p	CLIP-seq
MIRT2601791	hsa-miR-874	CLIP-seq

Show/Hide all (4)

GO ID	Ontology	Definition	Evidence
GO:0005634	Component	Nucleus	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA

MIM	HGNC	e!Ensembl
616633	29217	ENSG00000126464

Q9ULL5

Protein name

Proline-rich protein 12

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13926	DUF4211	1818 → 1945	Domain of unknown function (DUF4211)	Family

Sequence

MDRNYPSAGFGDPLGAGAGWSYERSAKASLVYGSSRTSHPETDILHRQAYAAPHPLQSYA
TNHHPAGLSGLFDTGLHHAGSAGPDASVMNLISALESRGPQPGPSASSLLSQFRSPSWQT
AMHTPGPTELFISGALPGSSTFPSSSALSAYQHPASFGSRPFPVPSSLSLQDPPFSPPAN
GLLSPHDVLHLKPSQAPTVPSSLGFERLAGGGVLGPAGLGPAQTPPYRPGPPDPPPPPRH
LPTQFNLLASSSAAAAAAEQSSPQLYNFSGAAPGPPPPERALPRQDTVIKHYQRPASAQP
PPPPPPAHALQHYLSCGGSYPSMGHRANLACSPLGGGEPSPGAGEPSKAGPSGATAGASG
RATGPEAAGGGGAGGGGGGYRPIIQSPGYKTGKGGYGAAAGGATRPPPPRSTATPKCQSL
GGPAAAYATGKASGAGGAGGQAYSPGQPQGLLGPQAYGQGFGGGQAQDLSKAPSYSGGPP
QPPSGPPPPGLATCQSYSPDQLQGQLYGVQGEPYPGPAAHSQGLPTASPSLSYSTGHSPA
LSGHGGGWGPSSLGGGGEASPSHIIRPLQSPPATGRPPGVGSPGAPGKYLSSVLASAPFL
APPGAGSYAAGAGGYKGKGDGSELLAGPGGPPAERTEDEEFLIQHLLQAPSPPRTSGADG
LVGEDGAADASKGLGGSGGAGGPPGTPYELAKEDPQRYHLQSVIRTSASLDEGATAALEL
GLGRLKEKKKGPERGGETPEGLATSVVHYGAGAKELGAFLQKSPPPPPPTAQSTQPTPHG
LLLEAGGPDLPLVLPPPPPQLLPSVLSHAPSPSPSASKVGVHLLEPATRDGAPQPPPPPP
PPPPPMPLQLEAHLRSHGLEPAAPSPRLRPEESLDPPGAMQELLGALEPLPPAPGDTGVG
PPNSEGKDPAGAYRSPSPQGTKAPRFVPLTSICFPDSLLQDEERSFFPTMEEMFGGGAAD
DYGKAGPPEDEGDPKAGAGPPPGPPAYDPYGPYCPGRASGAGPETPGLGLDPNKPPELPS
TVNAEPLGLIQSGPHQAAPPPPPPPPPPPAPASEPKGGLTSPIFCSTKPKKLLKTSSFHL
LRRRDPPFQTPKKLYAQEYEFEADEDKADVPADIRLNPRRLPDLVSSCRSRPALSPLGDI
DFCPPNPGPDGPRRRGRKPTKAKRDGPPRPRGRPRIRPLEVPTTAGPASASTPTDGAKKP
RGRGRGRGRKAEEAGGTRLEPLKPLKIKLSVPKAGEGLGTSSGDAISGTDHNSLDSSLTR
EKIEAKIKEVEEKQPEMKSGFMASFLDFLKSGKRHPPLYQAGLTPPLSPPKSVPPSVPAR
GLQPQPPATPAVPHPPPSGAFGLGGALEAAESEGLGLGCPSPCKRLDEELKRNLETLPSF
SSDEEDSVAKNRDLQESISSAISALDDPPLAGPKDTSTPDGPPLAPAAAVPGPPPLPGLP
SANSNGTPEPPLLEEKPPPTPPPAPTPQPQPPPPPPPPQPALPSPPPLVAPTPSSPPPPP
LPPPPPPAMPSPPPPPPPAAAPLAAPPEEPAAPSPEDPELPDTRPLHLAKKQETAAVCGE
TDEEAGESGGEGIFRERDEFVIRAEDIPSLKLALQTGREPPPIWRVQKALLQKFTPEIKD
GQRQFCATSNYLGYFGDAKNRYQRLYVKFLENVNKKDYVRVCARKPWHRPPVPVRRSGQA
KNPVSAGGSSAPPPKAPAPPPKPETPEKTTSEKPPEQTPETAMPEPPAPEKPSLLRPVEK
EKEKEKVTRGERPLRGERATSGRQTRPERSLATGQPATSRLPKARPTKVKAEPPPKKRKK
WLKEAGGNATAGGGPPGSSSDSESSPGAPSEDERAVPGRLLKTRAMREMYRSYVEMLVST
ALDPDMIQALEDTHDELYLPPMRKIDGLLNEHKKKVLKRLSLSPALQDALHTFPQLQVEQ
SGEGSPEEGAVRLRPAGEPYNRKTLSKLKRSVVRAQEFKVELEKSGYYTLYHSLHHYKYH
TFLRCRDQTLAIEGGAEDLGQEEVVQQCMRNQPWLEQLFDSFSDLLAQAQAHSRCG

Sequence length

2036

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of vision	Pathogenic	rs1555740650, rs1555741826, rs1555740394	RCV000627683 RCV000627684 RCV000627685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism	Pathogenic	rs1555740650, rs1555741826, rs1555740394	RCV000627683 RCV000627684 RCV000627685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
complex microphthalmia	Pathogenic; Likely pathogenic	rs1329160503, rs2122294765, rs2122296521, rs2122376761	RCV001543398 RCV001543397 RCV001543399 RCV001543396	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Pathogenic	rs1555740650, rs1555741826, rs1555740394	RCV000627683 RCV000627684 RCV000627685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs2514270277	RCV002287626	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iris coloboma	Pathogenic	rs1555740650, rs1555741826, rs1555740394	RCV000627683 RCV000627684 RCV000627685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Pathogenic	rs1555740650, rs1555741826, rs1555740394	RCV000627683 RCV000627684 RCV000627685	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuroocular syndrome	Pathogenic; Likely pathogenic	rs2080782866, rs2080776854, rs2080756986, rs1435355373, rs369152968, rs2122299732, rs1348922417, rs1186740723, rs2122309575, rs2122298859, rs2514277571, rs2514269834, rs2514270612, rs1337693743, rs1403667556 View all (7 more)	RCV001707866 RCV002222202 RCV002222203 RCV001707933 RCV001808277 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuroocular syndrome 1	Pathogenic; Likely pathogenic	rs2080782866, rs1329160503, rs2122376761, rs1435355373, rs2122311106, rs1436734029, rs1555740650, rs1555741826	RCV004577547 RCV006249759 RCV004577552 RCV004577553 RCV006257360 RCV005630342 RCV004577524 RCV004577525 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PRR12-related disorder	Likely pathogenic; Pathogenic	rs2514271975, rs2080763536	RCV003408516 RCV003964722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
Abnormality of neuronal migration	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	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	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPR12-associated neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRR12-associated Intellectual Disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRR12-related neuroocular syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	33314030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31884342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	29556724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33314030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26163108, 29556724		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29556724		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33314030	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	30573655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	33314030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	GWASCAT_DG	30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29556724		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PRR12 (proline rich 12)