MARK4 (microtubule affinity regulating kinase 4)

Gene

• Entrez ID: 57787
• Gene name: Microtubule affinity regulating kinase 4
• Gene symbol: MARK4
• Synonyms: MARK4L, MARK4S, MARKL1, MARKL1L, PAR-1D
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated wit

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018631	hsa-miR-335-5p	Microarray	18185580
MIRT047961	hsa-miR-30c-5p	CLASH	23622248
MIRT723892	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT723891	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723890	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT723889	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT723888	hsa-miR-3685	HITS-CLIP	19536157
MIRT723892	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT723891	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723890	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT723889	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT723888	hsa-miR-3685	HITS-CLIP	19536157
MIRT1132697	hsa-miR-1207-5p	CLIP-seq
MIRT1132698	hsa-miR-1237	CLIP-seq
MIRT1132699	hsa-miR-1252	CLIP-seq
MIRT1132700	hsa-miR-1255a	CLIP-seq
MIRT1132701	hsa-miR-1255b	CLIP-seq
MIRT1132702	hsa-miR-125a-3p	CLIP-seq
MIRT1132703	hsa-miR-136	CLIP-seq
MIRT1132704	hsa-miR-2467-3p	CLIP-seq
MIRT1132705	hsa-miR-298	CLIP-seq
MIRT1132706	hsa-miR-3120-3p	CLIP-seq
MIRT1132707	hsa-miR-3121-5p	CLIP-seq
MIRT1132708	hsa-miR-3127-3p	CLIP-seq
MIRT1132709	hsa-miR-3135b	CLIP-seq
MIRT1132710	hsa-miR-3144-5p	CLIP-seq
MIRT1132711	hsa-miR-3151	CLIP-seq
MIRT1132712	hsa-miR-3158-5p	CLIP-seq
MIRT1132713	hsa-miR-3191	CLIP-seq
MIRT1132714	hsa-miR-3194-5p	CLIP-seq
MIRT1132715	hsa-miR-320a	CLIP-seq
MIRT1132716	hsa-miR-320b	CLIP-seq
MIRT1132717	hsa-miR-320c	CLIP-seq
MIRT1132718	hsa-miR-320d	CLIP-seq
MIRT1132719	hsa-miR-320e	CLIP-seq
MIRT1132720	hsa-miR-3616-3p	CLIP-seq
MIRT1132721	hsa-miR-3649	CLIP-seq
MIRT1132722	hsa-miR-3665	CLIP-seq
MIRT1132723	hsa-miR-3678-3p	CLIP-seq
MIRT1132724	hsa-miR-3681	CLIP-seq
MIRT1132725	hsa-miR-3691-5p	CLIP-seq
MIRT1132726	hsa-miR-3919	CLIP-seq
MIRT1132727	hsa-miR-3925-5p	CLIP-seq
MIRT1132728	hsa-miR-4303	CLIP-seq
MIRT1132729	hsa-miR-4310	CLIP-seq
MIRT1132730	hsa-miR-4313	CLIP-seq
MIRT1132731	hsa-miR-4429	CLIP-seq
MIRT1132732	hsa-miR-4436b-3p	CLIP-seq
MIRT1132733	hsa-miR-4438	CLIP-seq
MIRT1132734	hsa-miR-4447	CLIP-seq
MIRT1132735	hsa-miR-4455	CLIP-seq
MIRT1132736	hsa-miR-4472	CLIP-seq
MIRT1132737	hsa-miR-4481	CLIP-seq
MIRT1132738	hsa-miR-4533	CLIP-seq
MIRT1132739	hsa-miR-4652-5p	CLIP-seq
MIRT1132740	hsa-miR-4663	CLIP-seq
MIRT1132741	hsa-miR-4667-3p	CLIP-seq
MIRT1132742	hsa-miR-4668-3p	CLIP-seq
MIRT1132743	hsa-miR-4699-3p	CLIP-seq
MIRT1132744	hsa-miR-4710	CLIP-seq
MIRT1132745	hsa-miR-4721	CLIP-seq
MIRT1132746	hsa-miR-4728-5p	CLIP-seq
MIRT1132747	hsa-miR-4745-5p	CLIP-seq
MIRT1132748	hsa-miR-4747-5p	CLIP-seq
MIRT1132749	hsa-miR-4753-3p	CLIP-seq
MIRT1132750	hsa-miR-4758-5p	CLIP-seq
MIRT1132751	hsa-miR-4763-3p	CLIP-seq
MIRT1132752	hsa-miR-4768-5p	CLIP-seq
MIRT1132753	hsa-miR-4773	CLIP-seq
MIRT1132754	hsa-miR-4790-3p	CLIP-seq
MIRT1132755	hsa-miR-486-5p	CLIP-seq
MIRT1132756	hsa-miR-491-5p	CLIP-seq
MIRT1132757	hsa-miR-513a-3p	CLIP-seq
MIRT1132758	hsa-miR-515-5p	CLIP-seq
MIRT1132759	hsa-miR-544	CLIP-seq
MIRT1132760	hsa-miR-624	CLIP-seq
MIRT1132761	hsa-miR-628-5p	CLIP-seq
MIRT1132762	hsa-miR-657	CLIP-seq
MIRT1132763	hsa-miR-922	CLIP-seq
MIRT2037819	hsa-miR-122	CLIP-seq
MIRT1132699	hsa-miR-1252	CLIP-seq
MIRT1132700	hsa-miR-1255a	CLIP-seq
MIRT1132701	hsa-miR-1255b	CLIP-seq
MIRT2037820	hsa-miR-1470	CLIP-seq
MIRT2037821	hsa-miR-1913	CLIP-seq
MIRT2037822	hsa-miR-198	CLIP-seq
MIRT2037823	hsa-miR-214	CLIP-seq
MIRT1132704	hsa-miR-2467-3p	CLIP-seq
MIRT2037824	hsa-miR-3064-5p	CLIP-seq
MIRT1132707	hsa-miR-3121-5p	CLIP-seq
MIRT1132711	hsa-miR-3151	CLIP-seq
MIRT2037825	hsa-miR-3192	CLIP-seq
MIRT2037826	hsa-miR-324-3p	CLIP-seq
MIRT2037827	hsa-miR-361-3p	CLIP-seq
MIRT1132720	hsa-miR-3616-3p	CLIP-seq
MIRT2037828	hsa-miR-3619-5p	CLIP-seq
MIRT2037829	hsa-miR-3652	CLIP-seq
MIRT2037830	hsa-miR-3657	CLIP-seq
MIRT1132723	hsa-miR-3678-3p	CLIP-seq
MIRT2037831	hsa-miR-3922-5p	CLIP-seq
MIRT2037832	hsa-miR-4279	CLIP-seq
MIRT2037833	hsa-miR-4287	CLIP-seq
MIRT2037834	hsa-miR-4291	CLIP-seq
MIRT2037835	hsa-miR-4430	CLIP-seq
MIRT1132734	hsa-miR-4447	CLIP-seq
MIRT1132735	hsa-miR-4455	CLIP-seq
MIRT2037836	hsa-miR-4469	CLIP-seq
MIRT1132736	hsa-miR-4472	CLIP-seq
MIRT1132737	hsa-miR-4481	CLIP-seq
MIRT2037837	hsa-miR-4505	CLIP-seq
MIRT1132738	hsa-miR-4533	CLIP-seq
MIRT2037838	hsa-miR-4660	CLIP-seq
MIRT1132741	hsa-miR-4667-3p	CLIP-seq
MIRT2037839	hsa-miR-4669	CLIP-seq
MIRT2037840	hsa-miR-4685-3p	CLIP-seq
MIRT1132743	hsa-miR-4699-3p	CLIP-seq
MIRT2037841	hsa-miR-4700-3p	CLIP-seq
MIRT1132745	hsa-miR-4721	CLIP-seq
MIRT1132746	hsa-miR-4728-5p	CLIP-seq
MIRT2037842	hsa-miR-4735-5p	CLIP-seq
MIRT1132747	hsa-miR-4745-5p	CLIP-seq
MIRT2037843	hsa-miR-4749-3p	CLIP-seq
MIRT1132750	hsa-miR-4758-5p	CLIP-seq
MIRT2037844	hsa-miR-4775	CLIP-seq
MIRT2037845	hsa-miR-4795-5p	CLIP-seq
MIRT1132756	hsa-miR-491-5p	CLIP-seq
MIRT2037846	hsa-miR-513a-5p	CLIP-seq
MIRT2037847	hsa-miR-574-5p	CLIP-seq
MIRT2037848	hsa-miR-590-3p	CLIP-seq
MIRT2037849	hsa-miR-642a	CLIP-seq
MIRT2037850	hsa-miR-646	CLIP-seq
MIRT2037851	hsa-miR-7	CLIP-seq
MIRT2037852	hsa-miR-761	CLIP-seq
MIRT1132763	hsa-miR-922	CLIP-seq
MIRT2267851	hsa-miR-128	CLIP-seq
MIRT2267852	hsa-miR-18a	CLIP-seq
MIRT2267853	hsa-miR-18b	CLIP-seq
MIRT2267854	hsa-miR-2110	CLIP-seq
MIRT2267855	hsa-miR-27a	CLIP-seq
MIRT2267856	hsa-miR-27b	CLIP-seq
MIRT1132709	hsa-miR-3135b	CLIP-seq
MIRT2267857	hsa-miR-3147	CLIP-seq
MIRT2267858	hsa-miR-3150a-3p	CLIP-seq
MIRT2267859	hsa-miR-3160-3p	CLIP-seq
MIRT2267860	hsa-miR-3175	CLIP-seq
MIRT2267861	hsa-miR-3176	CLIP-seq
MIRT1132714	hsa-miR-3194-5p	CLIP-seq
MIRT2267862	hsa-miR-3689a-3p	CLIP-seq
MIRT2267863	hsa-miR-3689c	CLIP-seq
MIRT2267864	hsa-miR-3921	CLIP-seq
MIRT2267865	hsa-miR-3922-3p	CLIP-seq
MIRT2037831	hsa-miR-3922-5p	CLIP-seq
MIRT2037833	hsa-miR-4287	CLIP-seq
MIRT1132729	hsa-miR-4310	CLIP-seq
MIRT2267866	hsa-miR-4425	CLIP-seq
MIRT2267867	hsa-miR-4487	CLIP-seq
MIRT1132739	hsa-miR-4652-5p	CLIP-seq
MIRT2267868	hsa-miR-4653-5p	CLIP-seq
MIRT2037838	hsa-miR-4660	CLIP-seq
MIRT2037840	hsa-miR-4685-3p	CLIP-seq
MIRT2267869	hsa-miR-4699-5p	CLIP-seq
MIRT2267870	hsa-miR-4701-5p	CLIP-seq
MIRT1132746	hsa-miR-4728-5p	CLIP-seq
MIRT2267871	hsa-miR-4735-3p	CLIP-seq
MIRT2037845	hsa-miR-4795-5p	CLIP-seq
MIRT2267872	hsa-miR-486-3p	CLIP-seq
MIRT2267873	hsa-miR-518d-5p	CLIP-seq
MIRT2267874	hsa-miR-519b-5p	CLIP-seq
MIRT2267875	hsa-miR-519c-5p	CLIP-seq
MIRT2267876	hsa-miR-520c-5p	CLIP-seq
MIRT2267877	hsa-miR-526a	CLIP-seq
MIRT2267878	hsa-miR-558	CLIP-seq
MIRT2267879	hsa-miR-588	CLIP-seq
MIRT2267880	hsa-miR-661	CLIP-seq
MIRT2267881	hsa-miR-665	CLIP-seq
MIRT2037851	hsa-miR-7	CLIP-seq
MIRT2267882	hsa-miR-939	CLIP-seq
MIRT2453747	hsa-miR-1224-3p	CLIP-seq
MIRT2453748	hsa-miR-1260	CLIP-seq
MIRT2453749	hsa-miR-1260b	CLIP-seq
MIRT2453750	hsa-miR-1280	CLIP-seq
MIRT2453751	hsa-miR-188-3p	CLIP-seq
MIRT2453752	hsa-miR-3156-3p	CLIP-seq
MIRT2037827	hsa-miR-361-3p	CLIP-seq
MIRT2567531	hsa-miR-3925-3p	CLIP-seq
MIRT2567532	hsa-miR-4286	CLIP-seq
MIRT1132758	hsa-miR-515-5p	CLIP-seq
MIRT2567533	hsa-miR-766	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	14594945
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	23400999
GO:0000930	Component	Gamma-tubulin complex	IDA	25123532
GO:0001578	Process	Microtubule bundle formation	IEP	14594945
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	28386764
GO:0005515	Function	Protein binding	IPI	14594945, 14676191, 16959763, 23666762, 25416956, 32814053
GO:0005524	Function	ATP binding	NAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	23666762
GO:0005813	Component	Centrosome	IDA	14594945, 25123532
GO:0005815	Component	Microtubule organizing center	IDA	14594945
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IMP	23666762
GO:0006468	Process	Protein phosphorylation	TAS	14594945
GO:0007049	Process	Cell cycle	IEA
GO:0007399	Process	Nervous system development	IDA	14594945
GO:0008017	Function	Microtubule binding	IDA	14594945
GO:0015630	Component	Microtubule cytoskeleton	IDA	14594945
GO:0030425	Component	Dendrite	IDA	23666762
GO:0030496	Component	Midbody	IDA	25123532
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0036064	Component	Ciliary basal body	IMP	23400999
GO:0043005	Component	Neuron projection	IDA	14594945
GO:0043015	Function	Gamma-tubulin binding	IDA	14594945
GO:0043068	Process	Positive regulation of programmed cell death	NAS
GO:0043130	Function	Ubiquitin binding	NAS	14594945
GO:0044782	Process	Cilium organization	IGI	23400999
GO:0045724	Process	Positive regulation of cilium assembly	IMP	23400999
GO:0046605	Process	Regulation of centrosome cycle	IMP	25123532
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0050321	Function	Tau-protein kinase activity	IBA	21873635
GO:0050321	Function	Tau-protein kinase activity	IDA	14594945
GO:0050321	Function	Tau-protein kinase activity	IMP	23666762, 27708431
GO:0050321	Function	Tau-protein kinase activity	NAS	28386764
GO:0051301	Process	Cell division	IEA
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1904781	Process	Positive regulation of protein localization to centrosome	IMP	23400999

Other IDs

• MIM: 606495
• HGNC: 13538
• e!Ensembl: ENSG00000007047

Protein

• UniProt ID: Q96L34
• Protein name: MAP/microtubule affinity-regulating kinase 4 (EC 2.7.11.1) (MAP/microtubule affinity-regulating kinase-like 1)
• Protein function: Serine/threonine-protein kinase (PubMed:14594945, PubMed:15009667, PubMed:23184942, PubMed:23666762). Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:14594945, PubMed:23666762). Also phosphorylates the microtubule-associated p
• PDB: 5ES1, 8XFL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	59 → 310	Protein kinase domain	Domain
  PF00627	UBA	331 → 366	UBA/TS-N domain	Domain
  PF02149	KA1	710 → 752	Kinase associated domain 1	Domain

• Sequence:

  MSSRTVLAPGNDRNSDTHGTLGSGRSSDKGPSWSSRSLGARCRNSIASCPEEQPHVGNYR
  LLRTIGKGNFAKVKLARHILTGREVAIKIIDKTQLNPSSLQKLFREVRIMKGLNHPNIVK
  LFEVIETEKTLYLVMEYASAGEVFDYLVSHGRMKEKEARAKFRQIVSAVHYCHQKNIVHR
  DLKAENLLLDAEANIKIADFGFSNEFTLGSKLDTFCGSPPYAAPELFQGKKYDGPEVDIW
  SLGVILYTLVSGSLPFDGHNLKELRERVLRGKYRVPFYMSTDCESILRRFLVLNPAKRCT
  LEQIMKDKWINIGYEGEELKPYTEPEEDFGDTKRIEVMVGMGYTREEIKESLTSQKYNEV
  TATYLLLGRKTEEGGDRGAPGLALARVRAPSDTTNGTSSSKGTSHSKGQRSSSSTYHRQR
  RHSDFCGPSPAPLHPKRSPTSTGEAELKEERLPGRKASCSTAGSGSRGLPPSSPMVSSAH
  NPNKAEIPERRKDSTSTPNNLPPSMMTRRNTYVCTERPGAERPSLLPNGKENSSGTPRVP
  PASPSSHSLAPPSGERSRLARGSTIRSTFHGGQVRDRRAGGGGGGGVQNGPPASPTLAHE
  AAPLPAGRPRPTTNLFTKLTSKLTRRVADEPERIGGPEVTSCHLPWDQTETAPRLLRFPW
  SVKLTSSRPPEALMAALRQATAAARCRCRQPQPFLLACLHGGAGGPEPLSHFEVEVCQLP
  RPGLRGVLFRRVAGTALAFRTLVTRISNDLEL

• Sequence length: 752

Pathways

Reactome:

Anchoring of the basal body to the plasma membrane

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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, rs145518263, 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	23565137, 22832961, 24755620, 29777097, 30617256, 21460841, 21379329
Colorectal cancer	Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Hermansky-pudlak syndrome	Hermanski-Pudlak Syndrome, HERMANSKY-PUDLAK SYNDROME 8	rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095, rs121908316, rs281865163, rs281865082, rs121908385, rs121908386, rs281865081, rs281865077, rs121908904, rs1000881595, rs121908905, rs121908906, rs121908907, rs281865084, rs281865086, rs281865088, rs281865090, rs281865075, rs281865076, rs281865080, rs281865104, rs281865105, rs397507169, rs281865101, rs201348482, rs1564899492, rs281865114, rs281865110, rs281865107, rs281865112, rs727502866, rs786205464, rs869312835, rs869312836, rs869312837, rs869312838, rs369053765, rs879255646, rs886041723, rs1591055649, rs753928208, rs113304476, rs1131692151, rs1131692149, rs1131692146, rs1131692148, rs1131692147, rs764296457, rs1131692150, rs1131692332, rs1131692333, rs766602179, rs281865115, rs1554903728, rs1220869113, rs773323079, rs1554948134, rs1486224265, rs1277509410, rs1553750083, rs372020804, rs1564899012, rs1590262288, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708, rs1590262450, rs756471925, rs1478574193, rs1590263807, rs1590263820, rs779921624, rs755827664, rs374689398, rs886077189, rs1591120765, rs1260083432, rs748883997, rs750685598, rs778152054, rs755083879, rs1488175163, rs1591092841, rs1576687466, rs756325364, rs1591002808, rs1591045080, rs1602079277, rs1591109881, rs1591031929, rs200079039, rs1595560288, rs772475341, rs1330496818, rs1745947620, rs552340796, rs1453977337, rs754841982, rs1568469902, rs1763106978
Age-related macular degeneration	Age related macular degeneration	rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475	26691988
Meckel-gruber syndrome	Meckel-Gruber syndrome	rs121918203, rs137852832, rs386833760, rs386834180, rs397514753, rs62640570, rs587777145, rs377177061, rs587779733, rs587779736, rs730882231, rs730882233, rs786205508, rs201787275, rs886039792, rs886039791, rs886039804, rs886039805, rs886039806, rs886039803, rs886039793, rs765468645, rs1598057395, rs768237094
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358

Unknown
Disease name	Disease term	dbSNP ID	References
Anhydramnios	Anhydramnios
Dandy-walker syndrome	Dandy-Walker Syndrome
Exudative macular degeneration	Exudative age-related macular degeneration, exudative macular degeneration		26691988
Geographic atrophy	Geographic Atrophy		26691988