FRMD4A (FERM domain containing 4A)

Gene

• Entrez ID: 55691
• Gene name: FERM domain containing 4A
• Gene symbol: FRMD4A
• Synonyms (NCBI Gene): CCAFCA, FRMD4, bA295P9.4
• Disease Acronyms (UniProt): CCAFCA
• Chromosome: 10
• Chromosome location: 10p13
• Summary: This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation du

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs869025338	->CCTGGGACTCCAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042616	hsa-miR-423-3p	CLASH	23622248
MIRT440612	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440612	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1004470	hsa-miR-106a	CLIP-seq
MIRT1004471	hsa-miR-106b	CLIP-seq
MIRT1004472	hsa-miR-10a	CLIP-seq
MIRT1004473	hsa-miR-10b	CLIP-seq
MIRT1004474	hsa-miR-1193	CLIP-seq
MIRT1004475	hsa-miR-1208	CLIP-seq
MIRT1004476	hsa-miR-1273	CLIP-seq
MIRT1004477	hsa-miR-1321	CLIP-seq
MIRT1004478	hsa-miR-138	CLIP-seq
MIRT1004479	hsa-miR-17	CLIP-seq
MIRT1004480	hsa-miR-1909	CLIP-seq
MIRT1004481	hsa-miR-198	CLIP-seq
MIRT1004482	hsa-miR-20a	CLIP-seq
MIRT1004483	hsa-miR-20b	CLIP-seq
MIRT1004484	hsa-miR-2116	CLIP-seq
MIRT1004485	hsa-miR-2117	CLIP-seq
MIRT1004486	hsa-miR-302a	CLIP-seq
MIRT1004487	hsa-miR-302b	CLIP-seq
MIRT1004488	hsa-miR-302c	CLIP-seq
MIRT1004489	hsa-miR-302d	CLIP-seq
MIRT1004490	hsa-miR-302e	CLIP-seq
MIRT1004491	hsa-miR-3127-3p	CLIP-seq
MIRT1004492	hsa-miR-3134	CLIP-seq
MIRT1004493	hsa-miR-3187-3p	CLIP-seq
MIRT1004494	hsa-miR-320a	CLIP-seq
MIRT1004495	hsa-miR-320b	CLIP-seq
MIRT1004496	hsa-miR-320c	CLIP-seq
MIRT1004497	hsa-miR-320d	CLIP-seq
MIRT1004498	hsa-miR-320e	CLIP-seq
MIRT1004499	hsa-miR-325	CLIP-seq
MIRT1004500	hsa-miR-34b	CLIP-seq
MIRT1004501	hsa-miR-3616-3p	CLIP-seq
MIRT1004502	hsa-miR-3620	CLIP-seq
MIRT1004503	hsa-miR-3657	CLIP-seq
MIRT1004504	hsa-miR-3674	CLIP-seq
MIRT1004505	hsa-miR-372	CLIP-seq
MIRT1004506	hsa-miR-373	CLIP-seq
MIRT1004507	hsa-miR-3925-5p	CLIP-seq
MIRT1004508	hsa-miR-3926	CLIP-seq
MIRT1004509	hsa-miR-411	CLIP-seq
MIRT1004510	hsa-miR-4261	CLIP-seq
MIRT1004511	hsa-miR-4314	CLIP-seq
MIRT1004512	hsa-miR-4419a	CLIP-seq
MIRT1004513	hsa-miR-4429	CLIP-seq
MIRT1004514	hsa-miR-4435	CLIP-seq
MIRT1004515	hsa-miR-4496	CLIP-seq
MIRT1004516	hsa-miR-4510	CLIP-seq
MIRT1004517	hsa-miR-4529-5p	CLIP-seq
MIRT1004518	hsa-miR-4663	CLIP-seq
MIRT1004519	hsa-miR-4669	CLIP-seq
MIRT1004520	hsa-miR-4677-3p	CLIP-seq
MIRT1004521	hsa-miR-4677-5p	CLIP-seq
MIRT1004522	hsa-miR-4701-5p	CLIP-seq
MIRT1004523	hsa-miR-4721	CLIP-seq
MIRT1004524	hsa-miR-4739	CLIP-seq
MIRT1004525	hsa-miR-4753-3p	CLIP-seq
MIRT1004526	hsa-miR-4756-5p	CLIP-seq
MIRT1004527	hsa-miR-4762-5p	CLIP-seq
MIRT1004528	hsa-miR-4768-3p	CLIP-seq
MIRT1004529	hsa-miR-512-3p	CLIP-seq
MIRT1004530	hsa-miR-519d	CLIP-seq
MIRT1004531	hsa-miR-520a-3p	CLIP-seq
MIRT1004532	hsa-miR-520b	CLIP-seq
MIRT1004533	hsa-miR-520c-3p	CLIP-seq
MIRT1004534	hsa-miR-520d-3p	CLIP-seq
MIRT1004535	hsa-miR-520e	CLIP-seq
MIRT1004536	hsa-miR-548q	CLIP-seq
MIRT1004537	hsa-miR-548s	CLIP-seq
MIRT1004538	hsa-miR-548t	CLIP-seq
MIRT1004539	hsa-miR-588	CLIP-seq
MIRT1004540	hsa-miR-589	CLIP-seq
MIRT1004541	hsa-miR-592	CLIP-seq
MIRT1004542	hsa-miR-599	CLIP-seq
MIRT1004543	hsa-miR-658	CLIP-seq
MIRT1004544	hsa-miR-665	CLIP-seq
MIRT1004545	hsa-miR-93	CLIP-seq
MIRT1997766	hsa-miR-103a	CLIP-seq
MIRT1997767	hsa-miR-107	CLIP-seq
MIRT1004472	hsa-miR-10a	CLIP-seq
MIRT1004473	hsa-miR-10b	CLIP-seq
MIRT1997768	hsa-miR-1184	CLIP-seq
MIRT1997769	hsa-miR-1205	CLIP-seq
MIRT1997770	hsa-miR-1252	CLIP-seq
MIRT1004476	hsa-miR-1273	CLIP-seq
MIRT1997771	hsa-miR-128	CLIP-seq
MIRT1004478	hsa-miR-138	CLIP-seq
MIRT1997772	hsa-miR-139-5p	CLIP-seq
MIRT1997773	hsa-miR-141	CLIP-seq
MIRT1004480	hsa-miR-1909	CLIP-seq
MIRT1997774	hsa-miR-200a	CLIP-seq
MIRT1997775	hsa-miR-223	CLIP-seq
MIRT1997776	hsa-miR-296-3p	CLIP-seq
MIRT1997777	hsa-miR-298	CLIP-seq
MIRT1004486	hsa-miR-302a	CLIP-seq
MIRT1004487	hsa-miR-302b	CLIP-seq
MIRT1004488	hsa-miR-302c	CLIP-seq
MIRT1004489	hsa-miR-302d	CLIP-seq
MIRT1004490	hsa-miR-302e	CLIP-seq
MIRT1997778	hsa-miR-3064-5p	CLIP-seq
MIRT1004491	hsa-miR-3127-3p	CLIP-seq
MIRT1997779	hsa-miR-3177-5p	CLIP-seq
MIRT1004494	hsa-miR-320a	CLIP-seq
MIRT1004495	hsa-miR-320b	CLIP-seq
MIRT1004496	hsa-miR-320c	CLIP-seq
MIRT1004497	hsa-miR-320d	CLIP-seq
MIRT1004498	hsa-miR-320e	CLIP-seq
MIRT1997780	hsa-miR-3614-5p	CLIP-seq
MIRT1004501	hsa-miR-3616-3p	CLIP-seq
MIRT1004502	hsa-miR-3620	CLIP-seq
MIRT1997781	hsa-miR-3662	CLIP-seq
MIRT1997782	hsa-miR-3665	CLIP-seq
MIRT1997783	hsa-miR-3673	CLIP-seq
MIRT1004505	hsa-miR-372	CLIP-seq
MIRT1004506	hsa-miR-373	CLIP-seq
MIRT1997784	hsa-miR-376c	CLIP-seq
MIRT1997785	hsa-miR-377	CLIP-seq
MIRT1004508	hsa-miR-3926	CLIP-seq
MIRT1997786	hsa-miR-3934	CLIP-seq
MIRT1997787	hsa-miR-3940-5p	CLIP-seq
MIRT1997788	hsa-miR-4274	CLIP-seq
MIRT1004511	hsa-miR-4314	CLIP-seq
MIRT1997789	hsa-miR-432	CLIP-seq
MIRT1997790	hsa-miR-4328	CLIP-seq
MIRT1004513	hsa-miR-4429	CLIP-seq
MIRT1997791	hsa-miR-4433	CLIP-seq
MIRT1997792	hsa-miR-4459	CLIP-seq
MIRT1997793	hsa-miR-4507	CLIP-seq
MIRT1997794	hsa-miR-4519	CLIP-seq
MIRT1997795	hsa-miR-4645-5p	CLIP-seq
MIRT1997796	hsa-miR-4648	CLIP-seq
MIRT1004518	hsa-miR-4663	CLIP-seq
MIRT1997797	hsa-miR-4673	CLIP-seq
MIRT1004520	hsa-miR-4677-3p	CLIP-seq
MIRT1997798	hsa-miR-4695-3p	CLIP-seq
MIRT1997799	hsa-miR-4712-5p	CLIP-seq
MIRT1997800	hsa-miR-4714-3p	CLIP-seq
MIRT1004523	hsa-miR-4721	CLIP-seq
MIRT1997801	hsa-miR-4731-3p	CLIP-seq
MIRT1004525	hsa-miR-4753-3p	CLIP-seq
MIRT1004528	hsa-miR-4768-3p	CLIP-seq
MIRT1997802	hsa-miR-4789-3p	CLIP-seq
MIRT1997803	hsa-miR-4795-5p	CLIP-seq
MIRT1997804	hsa-miR-4801	CLIP-seq
MIRT1004531	hsa-miR-520a-3p	CLIP-seq
MIRT1004532	hsa-miR-520b	CLIP-seq
MIRT1004533	hsa-miR-520c-3p	CLIP-seq
MIRT1004534	hsa-miR-520d-3p	CLIP-seq
MIRT1004535	hsa-miR-520e	CLIP-seq
MIRT1997805	hsa-miR-520f	CLIP-seq
MIRT1997806	hsa-miR-532-3p	CLIP-seq
MIRT1997807	hsa-miR-545	CLIP-seq
MIRT1004536	hsa-miR-548q	CLIP-seq
MIRT1997808	hsa-miR-563	CLIP-seq
MIRT1997809	hsa-miR-581	CLIP-seq
MIRT1997810	hsa-miR-636	CLIP-seq
MIRT1997811	hsa-miR-642b	CLIP-seq
MIRT1997812	hsa-miR-657	CLIP-seq
MIRT1997813	hsa-miR-770-5p	CLIP-seq
MIRT1997814	hsa-miR-922	CLIP-seq
MIRT1997766	hsa-miR-103a	CLIP-seq
MIRT1997767	hsa-miR-107	CLIP-seq
MIRT2231423	hsa-miR-1224-3p	CLIP-seq
MIRT2231424	hsa-miR-1260	CLIP-seq
MIRT2231425	hsa-miR-1260b	CLIP-seq
MIRT2231426	hsa-miR-127-3p	CLIP-seq
MIRT2231427	hsa-miR-1280	CLIP-seq
MIRT2231428	hsa-miR-1283	CLIP-seq
MIRT2231429	hsa-miR-1294	CLIP-seq
MIRT2231430	hsa-miR-1304	CLIP-seq
MIRT1004477	hsa-miR-1321	CLIP-seq
MIRT2231431	hsa-miR-188-3p	CLIP-seq
MIRT2231432	hsa-miR-216a	CLIP-seq
MIRT2231433	hsa-miR-216b	CLIP-seq
MIRT2231434	hsa-miR-2681	CLIP-seq
MIRT1004486	hsa-miR-302a	CLIP-seq
MIRT1004487	hsa-miR-302b	CLIP-seq
MIRT1004488	hsa-miR-302c	CLIP-seq
MIRT1004489	hsa-miR-302d	CLIP-seq
MIRT1004490	hsa-miR-302e	CLIP-seq
MIRT2231435	hsa-miR-3120-5p	CLIP-seq
MIRT2231436	hsa-miR-3156-3p	CLIP-seq
MIRT2231437	hsa-miR-3197	CLIP-seq
MIRT2231438	hsa-miR-3200-5p	CLIP-seq
MIRT2231439	hsa-miR-34a	CLIP-seq
MIRT2231440	hsa-miR-34c-5p	CLIP-seq
MIRT2231441	hsa-miR-3670	CLIP-seq
MIRT1004505	hsa-miR-372	CLIP-seq
MIRT1004506	hsa-miR-373	CLIP-seq
MIRT1997785	hsa-miR-377	CLIP-seq
MIRT2231442	hsa-miR-431	CLIP-seq
MIRT2231443	hsa-miR-4330	CLIP-seq
MIRT1004512	hsa-miR-4419a	CLIP-seq
MIRT2231444	hsa-miR-4434	CLIP-seq
MIRT2231445	hsa-miR-449a	CLIP-seq
MIRT2231446	hsa-miR-449b	CLIP-seq
MIRT1004516	hsa-miR-4510	CLIP-seq
MIRT2231447	hsa-miR-4516	CLIP-seq
MIRT1997798	hsa-miR-4695-3p	CLIP-seq
MIRT1997800	hsa-miR-4714-3p	CLIP-seq
MIRT1997801	hsa-miR-4731-3p	CLIP-seq
MIRT1004524	hsa-miR-4739	CLIP-seq
MIRT1004526	hsa-miR-4756-5p	CLIP-seq
MIRT1997802	hsa-miR-4789-3p	CLIP-seq
MIRT1997804	hsa-miR-4801	CLIP-seq
MIRT2231448	hsa-miR-499-3p	CLIP-seq
MIRT2231449	hsa-miR-499a-3p	CLIP-seq
MIRT1004531	hsa-miR-520a-3p	CLIP-seq
MIRT1004532	hsa-miR-520b	CLIP-seq
MIRT1004533	hsa-miR-520c-3p	CLIP-seq
MIRT1004534	hsa-miR-520d-3p	CLIP-seq
MIRT1004535	hsa-miR-520e	CLIP-seq
MIRT2231450	hsa-miR-582-3p	CLIP-seq
MIRT1997811	hsa-miR-642b	CLIP-seq
MIRT2231451	hsa-miR-885-3p	CLIP-seq
MIRT2388215	hsa-miR-498	CLIP-seq
MIRT2449910	hsa-miR-149	CLIP-seq
MIRT2535290	hsa-miR-1237	CLIP-seq
MIRT2535291	hsa-miR-147	CLIP-seq
MIRT1997777	hsa-miR-298	CLIP-seq
MIRT2535292	hsa-miR-3119	CLIP-seq
MIRT1997780	hsa-miR-3614-5p	CLIP-seq
MIRT2535293	hsa-miR-3663-5p	CLIP-seq
MIRT2535294	hsa-miR-3678-3p	CLIP-seq
MIRT1997788	hsa-miR-4274	CLIP-seq
MIRT2535295	hsa-miR-4281	CLIP-seq
MIRT2535296	hsa-miR-4449	CLIP-seq
MIRT1997794	hsa-miR-4519	CLIP-seq
MIRT2535297	hsa-miR-4527	CLIP-seq
MIRT2535298	hsa-miR-4532	CLIP-seq
MIRT2535299	hsa-miR-502-5p	CLIP-seq
MIRT2535300	hsa-miR-513a-3p	CLIP-seq
MIRT1997809	hsa-miR-581	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IMP	27044754
GO:0005856	Component	Cytoskeleton	IEA
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005923	Component	Bicellular tight junction	IBA	21873635
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0050709	Process	Negative regulation of protein secretion	IEA
GO:0050714	Process	Positive regulation of protein secretion	IMP	27044754
GO:0090162	Process	Establishment of epithelial cell polarity	IEA

Other IDs

• MIM: 616305
• HGNC: 25491
• e!Ensembl: ENSG00000151474

Protein

• UniProt ID: Q9P2Q2
• Protein name: FERM domain-containing protein 4A
• Protein function: Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activa
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09379	FERM_N	24 → 86	FERM N-terminal domain	Domain
  PF00373	FERM_M	105 → 221	FERM central domain	Domain
  PF09380	FERM_C	225 → 326	FERM C-terminal PH-like domain	Domain
  PF11819	CUPID	356 → 491	Cytohesin Ubiquitin Protein Inducing Domain	Domain

• Sequence:

  MAVQLVPDSALGLLMMTEGRRCQVHLLDDRKLELLVQPKLLAKELLDLVASHFNLKEKEY
  FGIAFTDETGHLNWLQLDRRVLEHDFPKKSGPVVLYFCVRFYIESISYLKDNATIELFFL
  NAKSCIYKELIDVDSEVVFELASYILQEAKGDFSSNEVVRSDLKKLPALPTQALKEHPSL
  AYCEDRVIEHYKKLNGQTRGQAIVNYMSIVESLPTYGVHYYAVKDKQGIPWWLGLSYKGI
  FQYDYHDKVKPRKIFQWRQLENLYFREKKFSVEVHDPRRASVTRRTFGHSGIAVHTWYAC
  PALIKSIWAMAISQHQFYLDRKQSKSKIHAARSLSEIAIDLTETGTLKTSKLANMGSKGK
  IISGSSGSLLSSGSQESDSSQSAKKDMLAALKSRQEALEETLRQRLEELKKLCLREAELT
  GKLPVEYPLDPGEEPPIVRRRIGTAFKLDEQKILPKGEEAELERLEREFAIQSQITEAAR
  RLASDPNVSKKLKKQRKTSYLNALKKLQEIENAINENRIKSGKKPTQRASLIIDDGNIAS
  EDSSLSDALVLEDEDSQVTSTISPLHSPHKGLPPRPPSHNRPPPPQSLEGLRQMHYHRND
  YDKSPIKPKMWSESSLDEPYEKVKKRSSHSHSSSHKRFPSTGSCAEAGGGSNSLQNSPIR
  GLPHWNSQSSMPSTPDLRVRSPHYVHSTRSVDISPTRLHSLALHFRHRSSSLESQGKLLG
  SENDTGSPDFYTPRTRSSNGSDPMDDCSSCTSHSSSEHYYPAQMNANYSTLAEDSPSKAR
  QRQRQRQRAAGALGSASSGSMPNLAARGGAGGAGGAGGGVYLHSQSQPSSQYRIKEYPLY
  IEGGATPVVVRSLESDQEGHYSVKAQFKTSNSYTAGGLFKESWRGGGGDEGDTGRLTPSR
  SQILRTPSLGREGAHDKGAGRAAVSDELRQWYQRSTASHKEHSRLSHTSSTSSDSGSQYS
  TSSQSTFVAHSRVTRMPQMCKATSAALPQSQRSSTPSSEIGATPPSSPHHILTWQTGEAT
  ENSPILDGSESPPHQSTDE

• Sequence length: 1039

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	22430674
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	31174203
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Carcinoma	Basal cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	31174203
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752	17632509
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	rs869025338
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959

Unknown
Disease term	Disease name	Evidence	References	Source
Takayasu Arteritis	Takayasu Arteritis			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Restless Legs Syndrome	Restless Legs Syndrome			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	22430674, 25388005
Arrhythmogenic Right Ventricular Dysplasia	Associate	16569242
Arrhythmogenic Right Ventricular Dysplasia Familial 6	Associate	16569242
Autoimmune Pancreatitis	Associate	25985088
Body Dysmorphic Disorders	Associate	25388005
Carcinoma Pancreatic Ductal	Associate	37794108
Carcinoma Squamous Cell	Stimulate	22564525
Intellectual Disability	Associate	25388005
Lymphatic Metastasis	Associate	27666346
Microcephaly	Associate	25388005, 30214071
Neoplasm Metastasis	Associate	22564525
Neoplasms	Associate	22564525, 27666346
Neurologic Manifestations	Associate	25388005
Salivary Gland Diseases	Associate	25985088
Squamous Cell Carcinoma of Head and Neck	Associate	22564525
Squamous Cell Carcinoma of Head and Neck	Stimulate	27666346
Wilms Tumor	Associate	37019617