CDH2 (cadherin 2)

Gene

• Entrez ID: 1000
• Gene name: Cadherin 2
• Gene symbol: CDH2
• Synonyms: ACOGS, ADHD8, ARVD14, CD325, CDHN, CDw325, NCAD
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell ad

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199984052	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs201775968	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs754880999	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1555630396	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1598982483	->AACA	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1598982488	AG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1599010918	T>C	Pathogenic	Coding sequence variant, missense variant
rs1599011050	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1599017933	C>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005821	hsa-miR-204-5p	Microarray	21282569
MIRT005889	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	20979124
MIRT005889	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	20979124
MIRT007288	hsa-miR-145-5p	Luciferase reporter assay, Western blot	22370644
MIRT021006	hsa-miR-155-5p	Proteomics	19386588
MIRT021684	hsa-miR-138-5p	qRT-PCR	21770894
MIRT023197	hsa-miR-124-3p	Microarray	18668037
MIRT024104	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT028671	hsa-miR-30a-5p	Proteomics	18668040
MIRT040123	hsa-miR-615-3p	CLASH	23622248
MIRT038654	hsa-miR-27b-5p	CLASH	23622248
MIRT005889	hsa-miR-194-5p	qRT-PCR, Western blot	21845495
MIRT007288	hsa-miR-145-5p	Microarray	22942087
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT438531	hsa-miR-199a-5p	Luciferase reporter assay, Western blot	25041364
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT437967	hsa-miR-218-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705471
MIRT659656	hsa-miR-8485	HITS-CLIP	23824327
MIRT659655	hsa-miR-603	HITS-CLIP	23824327
MIRT659654	hsa-miR-1244	HITS-CLIP	23824327
MIRT659653	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT659652	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT440968	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT440968	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT023197	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	27073840
MIRT659654	hsa-miR-1244	HITS-CLIP	27418678
MIRT659653	hsa-miR-216b-3p	HITS-CLIP	27418678
MIRT659652	hsa-miR-411-5p	HITS-CLIP	27418678
MIRT659655	hsa-miR-603	HITS-CLIP	27418678
MIRT659656	hsa-miR-8485	HITS-CLIP	27418678
MIRT732740	hsa-miR-34c-3p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32586280
MIRT659656	hsa-miR-8485	HITS-CLIP	23824327
MIRT659655	hsa-miR-603	HITS-CLIP	23824327
MIRT659654	hsa-miR-1244	HITS-CLIP	23824327
MIRT659653	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT659652	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT879782	hsa-miR-1179	CLIP-seq
MIRT879783	hsa-miR-1224-3p	CLIP-seq
MIRT879784	hsa-miR-1260	CLIP-seq
MIRT879785	hsa-miR-1260b	CLIP-seq
MIRT879786	hsa-miR-1263	CLIP-seq
MIRT879787	hsa-miR-127-5p	CLIP-seq
MIRT879788	hsa-miR-1280	CLIP-seq
MIRT879789	hsa-miR-1283	CLIP-seq
MIRT879790	hsa-miR-129-5p	CLIP-seq
MIRT879791	hsa-miR-2052	CLIP-seq
MIRT879792	hsa-miR-221	CLIP-seq
MIRT879793	hsa-miR-222	CLIP-seq
MIRT879794	hsa-miR-2681	CLIP-seq
MIRT879795	hsa-miR-299-5p	CLIP-seq
MIRT879796	hsa-miR-3124-3p	CLIP-seq
MIRT879797	hsa-miR-3129-3p	CLIP-seq
MIRT879798	hsa-miR-380	CLIP-seq
MIRT879799	hsa-miR-3924	CLIP-seq
MIRT879800	hsa-miR-4495	CLIP-seq
MIRT879801	hsa-miR-452	CLIP-seq
MIRT879802	hsa-miR-4676-3p	CLIP-seq
MIRT879803	hsa-miR-4766-5p	CLIP-seq
MIRT879804	hsa-miR-532-3p	CLIP-seq
MIRT879805	hsa-miR-543	CLIP-seq
MIRT879806	hsa-miR-548m	CLIP-seq
MIRT879807	hsa-miR-548v	CLIP-seq
MIRT879808	hsa-miR-653	CLIP-seq
MIRT879790	hsa-miR-129-5p	CLIP-seq
MIRT879796	hsa-miR-3124-3p	CLIP-seq
MIRT2500645	hsa-miR-1225-3p	CLIP-seq
MIRT2500646	hsa-miR-1233	CLIP-seq
MIRT879789	hsa-miR-1283	CLIP-seq
MIRT2500647	hsa-miR-1301	CLIP-seq
MIRT2500648	hsa-miR-136	CLIP-seq
MIRT2500649	hsa-miR-3122	CLIP-seq
MIRT2500650	hsa-miR-3140-3p	CLIP-seq
MIRT2500651	hsa-miR-3145-3p	CLIP-seq
MIRT2500652	hsa-miR-325	CLIP-seq
MIRT2500653	hsa-miR-3913-5p	CLIP-seq
MIRT2500654	hsa-miR-3921	CLIP-seq
MIRT2500655	hsa-miR-3938	CLIP-seq
MIRT2500656	hsa-miR-411	CLIP-seq
MIRT2500657	hsa-miR-4303	CLIP-seq
MIRT2500658	hsa-miR-4325	CLIP-seq
MIRT2500659	hsa-miR-4427	CLIP-seq
MIRT2500660	hsa-miR-4530	CLIP-seq
MIRT2500661	hsa-miR-4653-5p	CLIP-seq
MIRT2500662	hsa-miR-4680-3p	CLIP-seq
MIRT2500663	hsa-miR-4793-3p	CLIP-seq
MIRT2500664	hsa-miR-5047	CLIP-seq
MIRT2500665	hsa-miR-515-5p	CLIP-seq
MIRT2500666	hsa-miR-520d-5p	CLIP-seq
MIRT2500667	hsa-miR-524-5p	CLIP-seq
MIRT2500668	hsa-miR-642a	CLIP-seq
MIRT2500669	hsa-miR-766	CLIP-seq
MIRT2500645	hsa-miR-1225-3p	CLIP-seq
MIRT2500646	hsa-miR-1233	CLIP-seq
MIRT879789	hsa-miR-1283	CLIP-seq
MIRT2500647	hsa-miR-1301	CLIP-seq
MIRT2500648	hsa-miR-136	CLIP-seq
MIRT2500650	hsa-miR-3140-3p	CLIP-seq
MIRT2500651	hsa-miR-3145-3p	CLIP-seq
MIRT2500652	hsa-miR-325	CLIP-seq
MIRT2500654	hsa-miR-3921	CLIP-seq
MIRT2500655	hsa-miR-3938	CLIP-seq
MIRT2500656	hsa-miR-411	CLIP-seq
MIRT2500657	hsa-miR-4303	CLIP-seq
MIRT2500658	hsa-miR-4325	CLIP-seq
MIRT2500659	hsa-miR-4427	CLIP-seq
MIRT2500660	hsa-miR-4530	CLIP-seq
MIRT2500661	hsa-miR-4653-5p	CLIP-seq
MIRT2500662	hsa-miR-4680-3p	CLIP-seq
MIRT2500664	hsa-miR-5047	CLIP-seq
MIRT2500665	hsa-miR-515-5p	CLIP-seq
MIRT2500666	hsa-miR-520d-5p	CLIP-seq
MIRT2500667	hsa-miR-524-5p	CLIP-seq
MIRT2500668	hsa-miR-642a	CLIP-seq
MIRT2500669	hsa-miR-766	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	17297473;18535113
KLF8	Repression	20728449
MSX2	Repression	21730974
MZF1	Unknown	15541732
SNAI1	Unknown	21796367
SNAI2	Unknown	21796367
SP1	Unknown	15541732
SP3	Unknown	15541732
TWIST1	Unknown	21796367
TWIST2	Repression	19581928
TWIST2	Unknown	21796367

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003323	Process	Type B pancreatic cell development	ISS
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	7650039, 17057644, 17098867, 17510365, 17679699, 18948590, 21357690, 29366904
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	22467863
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IDA	22467863
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0005911	Component	Cell-cell junction	IDA	7650039
GO:0005912	Component	Adherens junction	IDA	19101069, 24046456
GO:0005916	Component	Fascia adherens	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007043	Process	Cell-cell junction assembly	ISS
GO:0007155	Process	Cell adhesion	TAS	2384753
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA	21873635
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007416	Process	Synapse assembly	IBA	21873635
GO:0007420	Process	Brain development	IBA	21873635
GO:0008013	Function	Beta-catenin binding	IPI	19830702
GO:0008013	Function	Beta-catenin binding	TAS	16344550
GO:0009986	Component	Cell surface	ISS
GO:0010001	Process	Glial cell differentiation	ISS
GO:0014032	Process	Neural crest cell development	ISS
GO:0014069	Component	Postsynaptic density	IBA	21873635
GO:0014704	Component	Intercalated disc	IBA	21873635
GO:0014704	Component	Intercalated disc	ISS
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0016342	Component	Catenin complex	IBA	21873635
GO:0016342	Component	Catenin complex	IDA	7650039
GO:0019901	Function	Protein kinase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030027	Component	Lamellipodium	IBA	21873635
GO:0030027	Component	Lamellipodium	IDA	24046456
GO:0030054	Component	Cell junction	IDA	28169360
GO:0030864	Component	Cortical actin cytoskeleton	IDA	24046456
GO:0034332	Process	Adherens junction organization	TAS
GO:0035995	Process	Detection of muscle stretch	TAS	30568254
GO:0042383	Component	Sarcolemma	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	ISS
GO:0044853	Component	Plasma membrane raft	IEA
GO:0045177	Component	Apical part of cell	IBA	21873635
GO:0045294	Function	Alpha-catenin binding	IPI	7650039
GO:0045295	Function	Gamma-catenin binding	IPI	7650039
GO:0045296	Function	Cadherin binding	IBA	21873635
GO:0048514	Process	Blood vessel morphogenesis	IBA	21873635
GO:0048854	Process	Brain morphogenesis	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050770	Process	Regulation of axonogenesis	IBA	21873635
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	TAS
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IBA	21873635
GO:0060019	Process	Radial glial cell differentiation	IEA
GO:0060563	Process	Neuroepithelial cell differentiation	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27559042
GO:0070445	Process	Regulation of oligodendrocyte progenitor proliferation	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090497	Process	Mesenchymal cell migration	IEA
GO:0097118	Process	Neuroligin clustering involved in postsynaptic membrane assembly	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	ISS
GO:0098609	Process	Cell-cell adhesion	ISS
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA	21873635
GO:0099059	Component	Integral component of presynaptic active zone membrane	IBA	21873635
GO:0099060	Component	Integral component of postsynaptic specialization membrane	IBA	21873635
GO:1902897	Process	Regulation of postsynaptic density protein 95 clustering	IEA
GO:2000809	Process	Positive regulation of synaptic vesicle clustering	IEA

Other IDs

• MIM: 114020
• HGNC: 1759
• e!Ensembl: ENSG00000170558

Protein

• UniProt ID: P19022
• Protein name: Cadherin-2 (CDw325) (Neural cadherin) (N-cadherin) (CD antigen CD325)
• Protein function: Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of n
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08758	Cadherin_pro	31 → 121	Cadherin prodomain like	Domain
  PF00028	Cadherin	164 → 258	Cadherin domain	Domain
  PF00028	Cadherin	272 → 373	Cadherin domain	Domain
  PF00028	Cadherin	387 → 489	Cadherin domain	Domain
  PF00028	Cadherin	502 → 596	Cadherin domain	Domain
  PF00028	Cadherin	608 → 701	Cadherin domain	Domain
  PF01049	Cadherin_C	751 → 904	Cadherin cytoplasmic region	Family

• Sequence:

  MCRIAGALRTLLPLLAALLQASVEASGEIALCKTGFPEDVYSAVLSKDVHEGQPLLNVKF
  SNCNGKRKVQYESSEPADFKVDEDGMVYAVRSFPLSSEHAKFLIYAQDKETQEKWQVAVK
  LSLKPTLTEESVKESAEVEEIVFPRQFSKHSGHLQRQKRDWVIPPINLPENSRGPFPQEL
  VRIRSDRDKNLSLRYSVTGPGADQPPTGIFIINPISGQLSVTKPLDREQIARFHLRAHAV
  DINGNQVENPIDIVINVIDMNDNRPEFLHQVWNGTVPEGSKPGTYVMTVTAIDADDPNAL
  NGMLRYRIVSQAPSTPSPNMFTINNETGDIITVAAGLDREKVQQYTLIIQATDMEGNPTY
  GLSNTATAVITVTDVNDNPPEFTAMTFYGEVPENRVDIIVANLTVTDKDQPHTPAWNAVY
  RISGGDPTGRFAIQTDPNSNDGLVTVVKPIDFETNRMFVLTVAAENQVPLAKGIQHPPQS
  TATVSVTVIDVNENPYFAPNPKIIRQEEGLHAGTMLTTFTAQDPDRYMQQNIRYTKLSDP
  ANWLKIDPVNGQITTIAVLDRESPNVKNNIYNATFLASDNGIPPMSGTGTLQIYLLDIND
  NAPQVLPQEAETCETPDPNSINITALDYDIDPNAGPFAFDLPLSPVTIKRNWTITRLNGD
  FAQLNLKIKFLEAGIYEVPIIITDSGNPPKSNISILRVKVCQCDSNGDCTDVDRIVGAGL
  GTGAIIAILLCIIILLILVLMFVVWMKRRDKERQAKQLLIDPEDDVRDNILKYDEEGGGE
  EDQDYDLSQLQQPDTVEPDAIKPVGIRRMDERPIHAEPQYPVRSAAPHPGDIGDFINEGL
  KAADNDPTAPPYDSLLVFDYEGSGSTAGSLSSLNSSSSGGEQDYDYLNDWGPRFKKLADM
  YGGGDD

• Sequence length: 906

Pathways

KEGG:

Cell adhesion molecules
Arrhythmogenic right ventricular cardiomyopathy

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Adherens junctions interactions
Myogenesis
Post-translational protein phosphorylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arrhythmogenic right ventricular cardiomyopathy	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	rs63750743, rs121434420, rs121434421, rs193922674, rs111517471, rs137854613, rs113994177, rs121913006, rs121913008, rs121913011, rs121913003, rs121912992, rs397514041, rs386134243, rs193922672, rs193922673, rs397515925, rs397516712, rs397516784, rs397516913, rs397516915, rs397516919, rs397516923, rs397516929, rs397516932, rs397516933, rs397516940, rs397516943, rs397516946, rs397516955, rs397516986, rs397516987, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516996, rs397516997, rs397517001, rs397517003, rs397517005, rs397517008, rs397517009, rs397517010, rs397517012, rs397517013, rs397517015, rs397517017, rs397517021, rs397517022, rs397517025, rs397517030, rs397517393, rs587777134, rs587777135, rs140474226, rs145476705, rs727504443, rs727505077, rs727505260, rs727505271, rs727504786, rs727504430, rs727504432, rs727502993, rs730880082, rs730880092, rs786204393, rs786204392, rs786204389, rs786204388, rs786205476, rs786205353, rs760576804, rs794728708, rs397516510, rs794728137, rs794728111, rs1554108152, rs767643821, rs770873593, rs794728146, rs777573018, rs794728130, rs794728072, rs794728083, rs794728094, rs794728098, rs794729098, rs794729116, rs794729130, rs764817683, rs751288871, rs201405287, rs794729129, rs794729128, rs78897684, rs794729127, rs794729137, rs794729126, rs794729125, rs762103704, rs794729133, rs766209297, rs794729124, rs754912778, rs772220644, rs767987619, rs794729122, rs769220833, rs794729103, rs794729132, rs774663443, rs763639737, rs794729120, rs794729107, rs869025392, rs869025395, rs869025496, rs876657638, rs876657659, rs878853170, rs878854710, rs886039178, rs1114167345, rs886041322, rs781532110, rs1057517903, rs778178956, rs1060499940, rs1060500618, rs1060500607, rs1060500613, rs1064792927, rs1064792929, rs1064792928, rs1060501184, rs1060501186, rs1060501182, rs1555143134, rs750176752, rs1060502989, rs1064794350, rs1555142963, rs1064793231, rs1064796069, rs1064795963, rs758282201, rs1064793983, rs727505038, rs1554108410, rs1555143143, rs1555148271, rs1555149952, rs762288961, rs958681660, rs1555671201, rs1555627108, rs1554108287, rs1554105911, rs1554107839, rs1554107916, rs1554108610, rs1353074803, rs1555149975, rs1555145509, rs1425855043, rs1555639134, rs1555671441, rs763303290, rs878898365, rs1555142994, rs1555640399, rs1238227166, rs1555148032, rs1555144459, rs1555147210, rs1555148011, rs1555148035, rs1486464304, rs1554108929, rs1555142984, rs1453983744, rs1555145520, rs746173561, rs1555142971, rs1555148259, rs1555637555, rs1373300155, rs1554108477, rs1236464864, rs1555148048, rs1394836623, rs1561703922, rs113726158, rs1565599473, rs1565586921, rs1565586958, rs769022411, rs1568098570, rs1567933176, rs1375081885, rs1568105371, rs1039633976, rs1561703331, rs1565574709, rs766450773, rs1592729525, rs762753884, rs1598572298, rs759944835, rs1598810829, rs1581817513, rs1591828796, rs775256998, rs763907170, rs1187924885, rs1592738654, rs745457570, rs1581799453, rs1581816089, rs1318070848, rs1598592533, rs1435125402, rs1758912749, rs1464886350, rs1956192035, rs1396519956, rs930283260, rs1957127435, rs1987170019, rs752522753, rs2035287906
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	27811057
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, rs10520699, rs11852999, 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	27811057
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	17222817
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	16367923
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	27811057
Mental retardation	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	17222817
Mirror movements	Mirror movements disorder	rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187	17222817

Unknown
Disease name	Disease term	dbSNP ID	References
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		27811057
Duane retraction syndrome	Duane Retraction Syndrome	rs121912838, rs574270883, rs375494218, rs886055152, rs547068631, rs66480716	17222817
Grand mal status epilepticus	Grand Mal Status Epilepticus		12125071
Malformation of cortical development	Malformations of Cortical Development, Group II		17222817
Myocardial ischemia	Myocardial Ischemia		16214533
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		12125071
Petit mal status	Petit mal status		12125071
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		12125071
Stomach neoplasms	Malignant neoplasm of stomach, Stomach Neoplasms		16367923