Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Anonychia |
ANONYCHIA |
rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150 |
|
Aplasia cutis congenita |
Aplasia Cutis Congenita |
rs587777706 |
|
Arthrogryposis multiplex congenita |
Arthrogryposis |
rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627 View all (138 more) |
|
Epidermolysis bullosa |
Epidermolysis bullosa with pyloric atresia |
rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901, rs1558088792, rs121912466, rs2147483647, rs746056280, rs121912832, rs121912833, rs121912834, rs121912836, rs121912837, rs759990189, rs121912839, rs121912844, rs121912845, rs1575495784, rs121912848, rs121912849, rs121912851, rs121912852, rs121912853, rs121912854, rs121912855, rs121912769, rs1564673127, rs121912770, rs753898533, rs121912771, rs1589562891, rs2134563935, rs2134581672, rs121912772, rs121912773, rs121912774, rs121912856, rs201551805, rs769967565, rs786204774, rs797045084, rs886039330, rs886039412, rs1553277702, rs886041187, rs368007918, rs886041186, rs766902987, rs886041555, rs752657203, rs757415879, rs886058642, rs752317971, rs201307156, rs1057517096, rs774133746, rs772421306, rs758886532, rs144023803, rs1057517723, rs760063197, rs916512411, rs772381373, rs768128088, rs374718902, rs762162799, rs1064793916, rs780623622, rs747522386, rs1064793760, rs775196743, rs1131691385, rs201940939, rs200972872, rs139318843, rs1368134215, rs1203706188, rs772038362, rs1553281335, rs1181742615, rs1553853022, rs1553612928, rs1055680335, rs1057517023, rs760094345, rs1560241522, rs199527325, rs751535193, rs767539005, rs775244527, rs769808745, rs1032335328, rs1478395810, rs777672897, rs1575466699, rs776841521, rs1589572214, rs761388039, rs769294243, rs761927109, rs754621187 View all (97 more) |
9185503, 26817667 |
Junctional epidermolysis bullosa with pyloric atresia |
Junctional epidermolysis bullosa with pyloric atresia |
rs794726676, rs121912461, rs121912462, rs80338755, rs121912463, rs147222357, rs121912464, rs121912465, rs1434530468, rs121912467, rs121912468, rs758551913, rs879255260, rs886041205, rs752657203, rs772142634, rs551348450, rs545619665 View all (3 more) |
|
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs587776843 |
17379860 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Renal dysplasia |
Renal Cell Dysplasia, Renal dysplasia |
|
|
ClinVar |
Epidermolysis Bullosa |
epidermolysis bullosa, junctional 6, with pyloric atresia |
|
|
GenCC |
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 |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
34818353 |
Adenocarcinoma of Lung |
Associate
|
35029906 |
Aicardi Syndrome |
Associate
|
37040084 |
Anemia Sickle Cell |
Associate
|
32987729 |
Arthritis Rheumatoid |
Associate
|
9849316 |
Arthropathy progressive pseudorheumatoid of childhood |
Associate
|
8751975 |
Asthma |
Associate
|
29769273, 32494122 |
Barrett Esophagus |
Associate
|
34818353 |
Blister |
Associate
|
1694890 |
Breast Neoplasms |
Associate
|
22791584, 25269750, 25445919, 25450398, 26695635, 27001172, 27624978, 28084338, 29909039, 30850363, 32494122, 33500458, 34626053, 38250718 |
Cap Myopathy |
Associate
|
21820706 |
Carcinoma |
Associate
|
22331423 |
Carcinoma Hepatocellular |
Associate
|
24304619, 29425759 |
Carcinoma Hepatocellular |
Stimulate
|
35657344 |
Carcinoma Non Small Cell Lung |
Associate
|
35007184, 35447118 |
Carcinoma Squamous Cell |
Associate
|
26499463 |
Carotid Artery Diseases |
Associate
|
36959587 |
Classical Lissencephalies and Subcortical Band Heterotopias |
Associate
|
34347028 |
Colorectal Neoplasms |
Associate
|
26674523, 26895101, 30536996, 34257702 |
COVID 19 |
Associate
|
33413422 |
Dermatitis Atopic |
Associate
|
37540585 |
Developmental Disabilities |
Associate
|
34347028 |
Diabetes Mellitus Type 2 |
Associate
|
35898457 |
Ectodermal Dysplasia |
Associate
|
9185503 |
Epidermolysis Bullosa |
Associate
|
1694890, 9546354 |
Epidermolysis Bullosa Junctional |
Associate
|
8751975, 9158140 |
Epidermolysis bullosa with pyloric atresia |
Associate
|
15654962, 39322060, 9185503 |
Esophageal Squamous Cell Carcinoma |
Associate
|
31345182, 35835740, 36290884 |
Familial duodenal atresia |
Associate
|
9158140 |
Glioblastoma |
Associate
|
26992919, 30467961, 37821547 |
Glioma |
Associate
|
35044082 |
Hemangiosarcoma |
Associate
|
7682756 |
Hirschsprung Disease |
Associate
|
34471485 |
Hodgkin Disease |
Associate
|
21820706 |
Inflammation |
Associate
|
23570247 |
Inflammatory Bowel Disease 25 Autosomal Recessive |
Associate
|
34525210 |
Leiomyosarcoma |
Inhibit
|
7682756 |
Leukemia |
Associate
|
18831072, 23233446, 31894899 |
Leukemia B Cell |
Associate
|
18831072 |
Leukemia Myeloid Acute |
Associate
|
23233446, 26439029 |
Leukemia Myeloid Acute |
Stimulate
|
35289472 |
Leukemia Plasma Cell |
Inhibit
|
33785876 |
Leukoplakia Hairy |
Associate
|
10918561 |
Lung Neoplasms |
Associate
|
8080732 |
Lymphatic Metastasis |
Associate
|
25472585 |
Lymphedema |
Associate
|
33785876 |
Lymphoma Follicular |
Associate
|
20220060 |
Melanoma |
Associate
|
1991990 |
Mental Disorders |
Associate
|
26508570 |
Multiple Myeloma |
Associate
|
21820706, 33785876 |
Multiple Sclerosis |
Inhibit
|
9708801 |
Muscular Dystrophy Duchenne |
Associate
|
20382434, 32157826 |
Mycosis Fungoides |
Associate
|
1384339 |
Myelodysplastic Syndromes |
Stimulate
|
35289472 |
Nasopharyngeal Carcinoma |
Associate
|
12746479, 16306614, 30772768 |
Neoplasm Metastasis |
Associate
|
16306614, 22813880, 24304619, 30536996, 30772768, 30894280, 35168644, 40083708, 9846970 |
Neoplasm Metastasis |
Inhibit
|
33785876 |
Neoplasms |
Associate
|
20220060, 20353996, 22112299, 23450810, 23570247, 23593654, 24008095, 24091622, 25450398, 25472585, 26239765, 26311223, 26499463, 27001172, 28249895, 28328815, 28415821, 28494073, 29573114, 29909039, 31048929, 32934021, 34471485, 37392167, 37410084, 37821547, 38216092 View all (12 more) |
Neoplasms |
Stimulate
|
27624978 |
Neoplasms |
Inhibit
|
30772768 |
Neurilemmoma |
Associate
|
7682756 |
Neuroblastoma |
Associate
|
31406249 |
Neurofibrosarcoma |
Inhibit
|
7682756 |
Neuroma Acoustic |
Associate
|
33176868 |
Osteoporotic Fractures |
Stimulate
|
32602654 |
Osteosarcoma |
Associate
|
40083708 |
Ovarian Neoplasms |
Associate
|
20628624, 28328815, 35168644 |
Pancreatic Neoplasms |
Associate
|
19825166, 29764514, 30894280 |
Paraproteinemias |
Associate
|
33785876 |
Paroxysmal ventricular fibrillation |
Stimulate
|
32602654 |
Pemphigoid Bullous |
Associate
|
1694890 |
Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Stimulate
|
18831072 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
18831072, 31894899 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
20220060 |
Prostatic Neoplasms |
Associate
|
17303120, 20651075, 23071686, 23106339, 23450810, 24497940, 25371445, 27509031, 28494073, 36095024 |
Prostatitis |
Associate
|
19938015, 23071686 |
Pyloric Atresia |
Associate
|
9546354 |
Radiation Injuries |
Associate
|
27624978 |
Schizophrenia Childhood |
Associate
|
26508570 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
28415821, 30431092, 34326893, 35820930, 39376501 |
Squamous Cell Carcinoma of Head and Neck |
Stimulate
|
33099569 |
Squamous Intraepithelial Lesions |
Associate
|
37410084 |
Stomach Neoplasms |
Associate
|
25472585 |
Thymoma |
Associate
|
8456937 |
Triple Negative Breast Neoplasms |
Associate
|
24008095, 24982892, 28084338, 37836626 |
Uterine Cervical Neoplasms |
Associate
|
27132080, 30908730, 37410084 |
Uterine Cervical Neoplasms |
Stimulate
|
30791957 |
|