| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
Evidence Score |
| Abnormal central motor function |
Likely pathogenic; Pathogenic |
rs878854991 |
RCV001814125 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Abnormal myelination |
Pathogenic |
rs1553315329 |
RCV000626921 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Fatigue |
Pathogenic |
rs1553315329 |
RCV000626921 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Flexion contracture |
Likely pathogenic; Pathogenic |
rs1060502227 |
RCV000626922 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hereditary spastic paraplegia |
Pathogenic; Likely pathogenic |
rs2148759473, rs1553315318, rs2148734593, rs1553315355, rs1573139616, rs1553317029, rs1553317030, rs2148746358, rs2148753724, rs2148753960, rs2148753986, rs2148754032, rs1553319093, rs2148762766, rs2148769396, rs2148685798, rs1553394620, rs2148685848, rs2148685859, rs2148733110, rs1057524526, rs2148734025, rs786204126, rs121908511, rs121908514, rs587777757, rs863224923, rs864622162, rs864622179, rs875989878, rs878854990, rs878854991, rs1060499670, rs1553316816, rs1553315223, rs121908518, rs1553400002, rs1558337180, rs1553314902, rs1573028017, rs1573156283, rs1573186691, rs1679556566, rs1553318241, rs778023258 View all (30 more) |
RCV001376106 RCV001848138 RCV001848139 RCV001848140 RCV001848142 RCV001848143 RCV001848144 RCV001848145 RCV001848148 RCV001848151 RCV001848152 RCV001848153 RCV001848157 RCV001848159 RCV001848161 RCV001848164 RCV001848165 RCV001848166 RCV001848167 RCV001848171 RCV001848174 RCV001848175 RCV001847790 RCV001847585 RCV001847586 RCV001847589 RCV001847904 RCV001847923 RCV001847924 RCV001847944 RCV001847989 RCV001847990 RCV001848797 RCV000516040 RCV001848907 RCV001848905 RCV001848957 RCV001849052 RCV001849079 RCV001849127 RCV001849119 RCV001847122 RCV001847137 RCV001847217 RCV001847219 View all (40 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Hereditary spastic paraplegia 2 |
Likely pathogenic |
rs1064796279 |
RCV002290151 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Hereditary spastic paraplegia 4 |
Likely pathogenic; Pathogenic |
rs1679265391, rs1553318350, rs2148762802, rs2148732927, rs2148734097, rs2148734579, rs2148744935, rs1553317045, rs1553318161, rs2148753972, rs2148754018, rs2148758252, rs2148759370, rs587777754, rs1553319874, rs1553321270, rs1553315355, rs2148685718, rs2148759354, rs1553318304, rs2148734462, rs1064793976, rs1553399476, rs1365753930, rs2148769324, rs2148759471, rs121908513, rs2148754411, rs1573139616, rs1553319093, rs1553394620, rs1057524526, rs2148734025, rs2148685545, rs1553316838, rs1553394608, rs1057521135, rs1553316837, rs1553315350, rs2148685612, rs786204057, rs1553318182, rs2148708949, rs1462628095, rs2148758232, rs2148746390, rs1553315318, rs2148744957, rs2148710617, rs2148762787, rs1553319327, rs2148685676, rs2148744982, rs1679543195, rs1218081251, rs2148732951, rs2148760843, rs2148734474, rs2148734583, rs2148710558, rs1553315316, rs2148754345, rs2148753634, rs2148769272, rs2148762771, rs2148762813, rs1677628649, rs1553315188, rs2465681239, rs2465884147, rs2465835448, rs786204132, rs786204126, rs786204163, rs2148759388, rs1553319532, rs1553319096, rs1421791559, rs2465681048, rs372349942, rs869312949, rs779643000, rs2465835167, rs2465838697, rs875989878, rs2465883152, rs2465884153, rs1553318241, rs1553319095, rs1553319087, rs797044850, rs1553319092, rs2465835379, rs2465883117, rs1553315356, rs121908509, rs121908510, rs587777751, rs121908511, rs587777752, rs587777753, rs121908512, rs587777755, rs587777756, rs121908514, rs121908516, rs121908518, rs587777757, rs121908519, rs1553321261, rs1553319534, rs2465681573, rs2465864806, rs1553316806, rs863224514, rs863224515, rs863224513, rs757130394, rs2465835665, rs863224923, rs2465908146, rs2148744884, rs2465838666, rs2465835399, rs864622268, rs864622162, rs864622179, rs878854990, rs878854991, rs878854992, rs1553317025, rs2465838759, rs2465903176, rs886039695, rs2465835571, rs2465864759, rs2465896658, rs2465762881, rs2465680440, rs2465884929, rs2465860656, rs2465896584, rs2465835765, rs2465903034, rs2465946332, rs2465838597, rs768241184, rs1553318251, rs2465902960, rs1553319526, rs1553319548, rs2465946747, rs765941217, rs2465683100, rs2465861005, rs2465917160, rs863224769, rs2465903125, rs2465682785, rs2465835245, rs2465681362, rs2465903479, rs2465679369, rs2465838551, rs2465681472, rs2465883035, rs1057519181, rs1553321237, rs1268625226, rs2465835384, rs2465860734, rs2465946207, rs2465762836, rs2465903354, rs2465864865, rs1057520127, rs1060499670, rs1060502229, rs1060502230, rs1060502226, rs1060502227, rs1060502228, rs573642949, rs1060499939, rs1064793273, rs1131691971, rs1553317029, rs1553321232, rs1553314896, rs1553314948, rs1553319318, rs1553400002, rs1485703744, rs1553315181, rs1553315321, rs1553399472, rs1553394366, rs1553317032, rs1553318274, rs1553318282, rs1553318313, rs1315245986, rs1131691977, rs1553318347, rs1553317028, rs1553318323, rs1553314978, rs1553315329, rs1553394603, rs1553394497, rs1553394509, rs1553318164, rs1553316799, rs1553318320, rs1553319298, rs1553399493, rs1410418105, rs1471030618, rs1553318223, rs570685843, rs1553319075, rs1553319296, rs1553318238, rs1553321194, rs1558323426, rs1558336551, rs1558336927, rs1558337180, rs1553316819, rs1558606204, rs1036039694, rs1558336906, rs1558337122, rs1558337136, rs1553314902, rs1558323659, rs1558336544, rs1558341948, rs1553317024, rs1573028017, rs1573068995, rs1573118105, rs1573142616, rs1553318230, rs1573156283, rs1573156341, rs1573167562, rs1573174147, rs1573139443, rs1573121594, rs1573121790, rs1553317018, rs1573157108, rs1553321269, rs1573186691, rs1384312757, rs1553318276, rs1553319524, rs1677627829, rs1678805683, rs1678810039, rs1678825469, rs1553315345, rs1679217117, rs1679263902, rs1679556566, rs1553319317, rs1680184249, rs145206063, rs1553319286, rs1678753568, rs1553318215, rs1679553611, rs1676391139, rs1678806430, rs1679732948, rs1553315236, rs1553319280, rs1377020559, rs1553318351, rs746263735, rs1678803263, rs1678809494, rs1678809927, rs1553318336, rs1678756927, rs1553318208, rs1676403099, rs1677533628, rs1678762730, rs1678826642, rs1553318353, rs1679558544, rs1678801811, rs1676388641, rs886800078, rs368951498, rs1553399498, rs1553400013, rs1318536893, rs771388402, rs1553314979, rs1678808584, rs2148734189, rs1553315240, rs1320663265, rs2148734527, rs2148734626, rs2148745001, rs1189374970, rs1553317041, rs1553317048, rs2148746437, rs2148753625, rs1679543364, rs1679543653, rs2148753672, rs2148753700, rs1553318184, rs2148753724, rs2148753725, rs1553318246, rs2148754101, rs1553318329, rs2148754355, rs1553318331, rs2148754376, rs2148758241, rs2148759400, rs2148759407, rs2148759412, rs2148759447, rs2148760797, rs2148760886, rs778023258, rs2148769284, rs1680185365, rs1677532829, rs1678805865, rs1259072587, rs1553318214 View all (326 more) |
RCV002225131 RCV001377877 RCV001376855 RCV001384832 RCV001385508 RCV001390415 RCV001387867 RCV001383109 RCV001390175 RCV001380044 RCV001389860 RCV001388853 RCV001384665 RCV001382866 RCV001382867 RCV001385100 RCV001528133 RCV001530403 RCV001533203 RCV001533204 RCV001533205 RCV001533206 RCV003523096 RCV003633593 RCV001729990 RCV001730021 RCV001754545 RCV001822087 RCV002543369 RCV002478078 RCV002543370 RCV003132544 RCV002034743 RCV001904887 RCV001960564 RCV001960327 RCV001960331 RCV001960346 RCV001911794 RCV001950805 RCV002005404 RCV001905076 RCV001885007 RCV001874649 RCV002035360 RCV002037743 RCV002000098 RCV002024525 RCV002014795 RCV001994483 RCV001962918 RCV002033014 RCV001953427 RCV002050789 RCV001970051 RCV001956162 RCV001918295 RCV001941135 RCV001956531 RCV001951595 RCV002225158 RCV005626611 RCV002246738 RCV002262167 RCV002272878 RCV002272996 RCV002281036 RCV002281671 RCV002283645 RCV002288248 RCV002289345 RCV000168104 RCV000168087 RCV000168164 RCV000167918 RCV002470180 RCV002470498 RCV003235729 RCV003523137 RCV003775539 RCV003633671 RCV004798943 RCV003079023 RCV002625104 RCV002651448 RCV002651449 RCV002664229 RCV002634366 RCV002634367 RCV002651452 RCV002651453 RCV002814347 RCV000206286 RCV002810084 RCV002861254 RCV002839415 RCV002870950 RCV002837782 RCV000006011 RCV000006012 RCV000006013 RCV000006014 RCV000006015 RCV000006017 RCV000006018 RCV000006019 RCV000006020 RCV000006021 RCV000006022 RCV000006023 RCV000006024 RCV000006027 RCV000006029 RCV000006030 RCV002842445 RCV002857449 RCV002871697 RCV002886617 RCV002926582 RCV002913431 RCV000200095 RCV000195823 RCV000200188 RCV000197545 RCV002953734 RCV000195806 RCV003019259 RCV003039381 RCV003051562 RCV003048159 RCV000204013 RCV000204046 RCV000205236 RCV000211536 RCV000234461 RCV000230990 RCV000228683 RCV003131572 RCV003152867 RCV003226069 RCV001038756 RCV003234880 RCV003236631 RCV003482912 RCV003330232 RCV003336688 RCV003388815 RCV005104325 RCV003445445 RCV003523238 RCV003523219 RCV003522168 RCV003522365 RCV003525266 RCV003525269 RCV003525270 RCV003525271 RCV003525273 RCV003525275 RCV003525276 RCV003524667 RCV003524776 RCV003522729 RCV003522885 RCV003634638 RCV003634674 RCV003634760 RCV003634723 RCV003635193 RCV003635376 RCV003633041 RCV003633101 RCV003633031 RCV003633312 RCV003633328 RCV003634187 RCV003874217 RCV003887830 RCV003887845 RCV003994706 RCV004584245 RCV004586287 RCV004595250 RCV001391499 RCV003633502 RCV003522968 RCV003522978 RCV000449607 RCV000477009 RCV000460629 RCV000472388 RCV000459046 RCV000468513 RCV000461473 RCV000468399 RCV002525773 RCV000794493 RCV005415570 RCV001364718 RCV000709816 RCV005091169 RCV003993992 RCV000535751 RCV003522985 RCV000821011 RCV000686298 RCV000644897 RCV002525083 RCV000644889 RCV000528465 RCV000557631 RCV000544533 RCV000537576 RCV000529065 RCV000547623 RCV000545502 RCV000550986 RCV000548239 RCV000536355 RCV000548535 RCV000526604 RCV000539043 RCV000554278 RCV000532382 RCV000544321 RCV000578366 RCV000578417 RCV001232194 RCV003523004 RCV000688305 RCV001391497 RCV001243896 RCV000644885 RCV000644902 RCV000644890 RCV000644886 RCV000644892 RCV000644898 RCV000644891 RCV000644900 RCV000644894 RCV000644887 RCV000644893 RCV000644896 RCV000644884 RCV000644903 RCV000677392 RCV000699506 RCV000700157 RCV000699128 RCV000700328 RCV000688359 RCV000689805 RCV000686755 RCV000696816 RCV000685607 RCV000693187 RCV000690967 RCV000701279 RCV000707183 RCV002532955 RCV001203163 RCV000755019 RCV000761357 RCV000787278 RCV000824386 RCV000796148 RCV000805780 RCV000817235 RCV000823946 RCV000799219 RCV000823324 RCV000819748 RCV000791882 RCV000820480 RCV000806119 RCV000804703 RCV000936378 RCV000986613 RCV000986614 RCV000986615 RCV000986616 RCV000986617 RCV000986618 RCV000986619 RCV001205662 RCV003523053 RCV002471005 RCV001223606 RCV001051295 RCV001066646 RCV001035572 RCV001060706 RCV001043692 RCV001050999 RCV001050492 RCV001052644 RCV001053054 RCV001038074 RCV001063727 RCV005093458 RCV001198064 RCV001219068 RCV001215693 RCV001218540 RCV001211769 RCV001213809 RCV001213726 RCV001209331 RCV001209517 RCV001213274 RCV001203793 RCV001218499 RCV001219396 RCV001233082 RCV001229187 RCV001234110 RCV001236443 RCV001238726 RCV001228446 RCV001253534 RCV001261168 RCV005057195 RCV005057194 RCV002541637 RCV005094282 RCV001377876 RCV002246265 RCV001269481 RCV001391491 RCV001293029 RCV001391342 RCV001381114 RCV001391486 RCV001391487 RCV001391488 RCV001391489 RCV001391490 RCV001391492 RCV001391493 RCV001391495 RCV001391494 RCV001391496 RCV001391498 RCV001391500 RCV001391501 RCV001391502 RCV001391504 RCV001391506 RCV001391507 RCV001391508 RCV001391509 RCV001391510 RCV001391511 RCV001391512 RCV001391513 RCV001391514 RCV001391515 RCV001391516 RCV001391518 RCV001391517 RCV001391579 RCV001391580 RCV001391582 RCV001391583 RCV001391584 RCV001391585 RCV001391586 RCV001391588 RCV001391587 RCV001391589 RCV001391590 RCV001391344 RCV001391345 RCV001391346 RCV001391347 RCV001391349 RCV001391350 RCV001391351 RCV001391352 RCV001391354 RCV001391356 RCV001391357 RCV004556836 RCV001380192 RCV002542997 RCV001290955 RCV001308595 View all (383 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Melanoma |
Likely pathogenic; Pathogenic |
rs786204057, rs1573174147 |
RCV005925431 RCV005901997 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Pes valgus |
Likely pathogenic; Pathogenic |
rs1060502227 |
RCV000626922 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Seizure |
Pathogenic |
rs1553315329 |
RCV000626921 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| SPAST-related disorder |
Likely pathogenic; Pathogenic |
rs786204057, rs1553319092, rs863224923, rs878854991, rs1553318156, rs2465860656, rs2465903447, rs1060502228, rs1131691971 |
RCV004753457 RCV004753582 RCV003401083 RCV003422150 RCV003399928 RCV003402135 RCV003959844 RCV003972759 RCV004730958 View all (4 more) |
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| SPAST-related spastic paraplegia |
Likely pathogenic; Pathogenic |
rs2148753664, rs875989878 |
RCV002260563 RCV001796968 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spastic diplegia |
Likely pathogenic; Pathogenic |
rs1060502227 |
RCV000626922 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spastic paraparesis |
Likely pathogenic; Pathogenic |
rs121908511, rs1057518873, rs1553318331 |
RCV000415256 RCV000415025 RCV005241248 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spastic paraplegia |
Likely pathogenic; Pathogenic |
rs2465883028, rs1057518880, rs1553314978, rs1573072864 |
RCV002306283 RCV000414756 RCV000626923 RCV001003948 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spasticity |
Likely pathogenic; Pathogenic |
rs1064793976, rs1060502227 |
RCV005243585 RCV000626922 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Tics |
Pathogenic |
rs121908512 |
RCV001849258 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Tip-toe gait |
Likely pathogenic; Pathogenic |
rs1060502227, rs1553318276 |
RCV000626922 RCV001823007 |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Alzheimer Disease |
Alzheimer disease |
Pubtator |
21659953, 22817815, 24690193, 32501971 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alzheimer disease, familial, type 3 |
Alzheimer disease |
BEFREE |
24690193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic Lateral Sclerosis |
BEFREE |
16240363, 18608088 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Amyotrophic lateral sclerosis |
Pubtator |
30778698 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnoid Cysts |
Arachnoid cyst |
BEFREE |
15159500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arachnoid Cysts |
Arachnoid cyst |
LHGDN |
15159500 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
BEFREE |
21865889 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astrocytoma |
Astrocytoma |
Pubtator |
21865889 |
Stimulate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ataxia |
Ataxia |
Pubtator |
30778698 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autism Spectrum Disorders |
Autism Spectrum Disorder |
BEFREE |
28778789 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant spastic paraplegia type 4 |
Spastic Paraplegia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Cerebral Palsy |
Cerebral palsy |
Pubtator |
35076175, 36103453 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Cerebral Palsy |
Cerebral palsy |
CLINVAR_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dementia |
Dementia |
BEFREE |
12567407, 12925368, 14872021, 19652142, 21659953, 9507385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
Pubtator |
21659953, 25065914, 9507385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dementia |
Dementia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
BEFREE |
26806216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Depressive disorder |
Mental Depression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Distal amyotrophy |
Distal amyotrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysgenesis of corpus callosum |
Dysplastic corpus callosum |
BEFREE |
16009377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysmorphic features |
Dysmorphic Features |
CLINVAR_DG |
10610178, 10699187, 11309678, 14681884, 15326248, 17100993, 17101632, 18190593, 19453301, 20562464, 22554690, 23122959, 23438842, 24267886, 24478365, 25065914, 25315759, 26094131, 26208798, 26374131, 26671083 View all (6 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Edema |
Edema |
Pubtator |
36103408 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Edema |
Edema |
Pubtator |
36359747 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
11723204, 12567407, 9507385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
Pubtator |
11723204, 36103453, 9507385 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Temporal Lobe |
Epilepsy |
BEFREE |
16828199 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
BEFREE |
21865889, 25976261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma |
Glioblastoma |
Pubtator |
21865889 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioblastoma Multiforme |
Glioblastoma |
BEFREE |
21865889, 25976261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
17957230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Henoch-Schoenlein Purpura |
Henoch-Schonlein Nephritis |
BEFREE |
10677329, 11015453, 11402104, 11843700, 12023066, 12124993, 12134148, 12202986, 12552568, 14681884, 15242610, 15248095, 15269182, 15637712, 15667412, 15891913, 16009377, 16143870, 16276413, 16339213, 16602018, 16788734, 16893913, 17035675, 17539946, 17594340, 17597328, 17895902, 17957230, 18190593, 18644145, 18664244, 18701882, 19039240, 19084842, 19423133, 19438933, 19453301, 19714378, 19875132, 19939411, 20214791, 20461110, 20491894, 20550563, 20562464, 20718791, 21546041, 21888932, 22192498, 22232211, 22266886, 22573551, 22574173, 22773755, 22817815, 22960362, 23252998, 23264559, 23812641, 23968121, 24123785, 24141732, 24381312, 24690193, 24824479, 24969372, 25315759, 25421405, 25454648, 26165777, 26744324, 27229699, 27334366, 27789400, 28398512, 28572275, 28870597, 29246610, 30006150, 30082270, 30467602, 30476002, 30520996, 30777884, 31270336, 31285604, 31594988, 31745725, 31751864, 31787869 View all (76 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary Autosomal Dominant Spastic Paraplegia |
Spastic paraplegia |
BEFREE |
10493830, 10610178, 10699187, 11039577, 11266693, 11809724, 11839840, 12023066, 12124993, 12163196, 12736085, 14607301, 14732620, 14872021, 15164410, 15210521, 15637712, 15841487, 16684598, 17035675, 17098887, 17597328, 17690846, 17895902, 17957230, 19459885, 20154342, 25421405, 30006150 View all (14 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hereditary spastic paralysis, infantile onset ascending |
Spastic paralysis |
BEFREE |
31486053 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperlysinemias |
Hyperlipidemia |
Pubtator |
32493220 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
BEFREE |
16009377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
BEFREE |
10751268, 11134375, 12925368, 14872021, 16828199, 19652142, 29421991 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Impaired cognition |
Impaired Cognition |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
17957230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
LHGDN |
17957230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lateral Sclerosis |
Lateral Sclerosis |
BEFREE |
16240363 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Little`s Disease |
Spastic diplegia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental deficiency |
Mental retardation |
BEFREE |
17957230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Depression |
Mental Depression |
BEFREE |
26806216 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental disorders |
Mental Disorders |
BEFREE |
16828199 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
17957230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Migraine Disorders |
Migraine |
BEFREE |
15667412 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Miscarriage |
Miscarriage |
BEFREE |
24690193 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor Neuron Disease |
BEFREE |
15079007 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Motor Neuron Disease |
Motor neuron disease |
Pubtator |
36103408, 36359747, 37133535 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
10610178, 10699187, 11309678, 14681884, 15326248, 17100993, 17101632, 18190593, 19453301, 20562464, 22554690, 23122959, 23438842, 24267886, 24478365, 25065914, 25315759, 26094131, 26208798, 26374131, 26671083 View all (6 more) |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
BEFREE |
23438842 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple Sclerosis |
BEFREE |
11723204 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Sclerosis |
Multiple sclerosis |
Pubtator |
11723204 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25976261 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nervous System Diseases |
Nervous system disease |
Pubtator |
25658484, 34782662 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
12876245, 15242610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Neurodegenerative disorder |
Pubtator |
23745751, 27229699, 32979422 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
16276409, 20154342, 9736780 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
CTD_human_DG |
28191889 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Nonorganic psychosis |
Nonorganic Psychosis |
BEFREE |
16879299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Papillon-Lefevre Disease |
Papillon-Lefevre Disease |
BEFREE |
19364936 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraparesis Spastic |
Paraparesis |
Pubtator |
16055926 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia |
Paraplegia |
LHGDN |
12023066, 12552568, 15891913, 17957230 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia |
Paraplegia |
Pubtator |
16055926, 16788734, 20932283, 25065914, 27332075, 29980238, 31837705, 32493220 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia |
Paraplegia |
BEFREE |
22960362 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paraplegia |
Paraplegia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
BEFREE |
22192498 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Neuropathy |
Peripheral Neuropathy |
BEFREE |
22192498 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pervasive Development Disorder |
Autism spectrum disorder |
BEFREE |
28778789 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Presenile dementia |
Senile Dementia |
BEFREE |
12567407, 12925368, 14872021, 19652142, 21659953, 9507385 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Psychotic Disorders |
Psychosis |
BEFREE |
16879299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Russell-Silver syndrome |
Russell-Silver Syndrome |
BEFREE |
18401025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
BEFREE |
15596607 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
32389998 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia |
Spastic Paraplegia |
BEFREE |
12023066, 12736085, 15159500, 15667412, 16055926, 16788734, 17957230, 18664244, 19875132, 28778789, 28870597, 29980238, 30476002, 9507385 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spastic Paraplegia |
Spastic Paraplegia |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spastic Paraplegia |
Spastic Paraplegia |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Spastic paraplegia 10 autosomal dominant |
Spastic paraplegia |
Pubtator |
16055926 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 10, autosomal dominant |
Spondylometaphyseal dysplasia |
BEFREE |
10493830, 10610178, 10699187, 11985387, 15517445, 15596607, 16055926, 8931574 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 15, autosomal recessive |
Spondylometaphyseal dysplasia |
BEFREE |
16879299 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 17 |
Spastic Paraplegia |
BEFREE |
18401025 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 3, autosomal dominant |
Spastic paraplegia |
BEFREE |
19652243 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT |
Spastic Paraplegia |
BEFREE |
26671083 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 4 autosomal dominant |
Spastic paraplegia |
Pubtator |
25065914, 30737580, 9507385, 9847083 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 4, autosomal dominant |
Spastic Paraplegia |
UNIPROT_DG |
10610178, 10699187, 11015453, 11039577, 11087788, 11309678, 11809724, 11843700, 11985387, 12124993, 12161613, 12163196, 12202986, 12460147, 12552568, 12939659, 14732620, 15159500, 15210521, 15248095, 15326248, 15482961, 15667412, 15716377, 15891913, 16339213, 16682546, 16684598, 17389232, 17594340, 19000169, 20214791, 20550563, 20562464, 20718791, 20932283, 21546041, 22960362, 23279441, 24824479, 25045380, 25421405, 28572275 View all (28 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 4, autosomal dominant |
Spastic Paraplegia |
CLINVAR_DG |
10610178, 10699187, 11039577, 11087788, 11309678, 11809724, 11843700, 11985387, 12161613, 12552568, 15248095, 15716377, 15841487, 16009769, 16055926, 16240363, 16682546, 16832076, 17100993, 17594340, 17597328, 17598600, 17957230, 18410514, 18664244, 18701882, 19438933, 19875132, 20214791, 2056246, 20562464, 20665701, 20718791, 20932283, 21546041, 22960362, 23252998, 23833562, 24381312, 24451228, 24824479, 25045380, 25341883, 25658484, 26208798, 26374131, 26671083, 27084228, 27260292, 27334366, 27957547, 28572275, 9695811 View all (38 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 4, autosomal dominant |
Spastic Paraplegia |
BEFREE |
12939659, 15079007, 19423133, 19652243, 20857310, 20932283, 21659953, 24123785, 24381312, 26671083, 27789400, 31751864, 8931574 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 4, autosomal dominant |
Spastic Paraplegia |
GENOMICS_ENGLAND_DG |
15248095, 16240363, 16832076, 28572275 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 4, autosomal dominant |
Spastic Paraplegia |
ORPHANET_DG |
17895902 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic paraplegia 4, autosomal dominant |
Spastic Paraplegia |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) |
Spastic paraplegia |
BEFREE |
19652142 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic paraplegia 8, autosomal dominant |
Spastic paraplegia |
BEFREE |
31814071 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
10677329, 11723204, 16339213, 16788734, 17098887, 18644145, 18701882, 19000169, 19494379, 19652243, 20214791, 20430936, 20461110, 20562464, 20718791, 20932283, 21659953, 22817815, 23264559, 23716148, 23745751, 23969831, 24381312, 25421405, 25658484, 26374131, 26600529, 26875866, 27229699, 27789400, 29481671, 29809239, 29980238, 30737580, 30778698, 31270336, 31594988, 31837705, 32493220, 32501971, 32522921, 33638609, 34404843, 34715294, 34782662, 34927746, 34983064, 35132972, 35248878, 35331153, 36103408, 36103453, 36109173, 36139378, 36515702, 36825575, 37120112, 37133535, 9042923 View all (44 more) |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia Hereditary |
Hereditary spastic paraplegia |
Pubtator |
36359747 |
Inhibit |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
BEFREE |
10980739, 11309678, 11377972, 11843700, 12676568, 14681884, 14732620, 15210521, 15248095, 15637712, 15667412, 15716377, 15891913, 16009377, 16009769, 16476820, 16476945, 16571355, 16602018, 16682546, 16684598, 16832076, 17098887, 17100993, 17539946, 17594340, 17895902, 17916079, 17992088, 18190593, 18202664, 18401025, 18644145, 18701882, 19039240, 19423133, 19453301, 19494379, 19619244, 19652142, 19714378, 19875132, 19939411, 20430936, 20461110, 20491894, 20562464, 20932283, 20935173, 21546041, 21659953, 21834905, 21888932, 22192498, 22491195, 22574173, 22773755, 23252998, 23264559, 23716148, 23812641, 23968121, 24123785, 24478365, 24648003, 25315759, 25454648, 25658484, 26094131, 26165777, 27229699, 27334366, 27789400, 28008689, 28495799, 28870597, 29421991, 29481671, 30006150, 30082270, 30213879, 30489674, 30520996, 30737580, 30777884, 31108029, 31150727, 31285604, 31587092, 31594988, 31698101, 31751864 View all (77 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
LHGDN |
11704932, 12124993, 12161613, 12163196, 12490534, 15159500, 15841487, 15858810, 15939438, 16026783, 16339213, 16788734, 17035675, 17100993, 17420921, 17594340, 18190593, 18202664, 18701882 View all (4 more) |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spastic Paraplegia, Hereditary |
Spastic paraplegia |
CLINVAR_DG |
28832565 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Spinocerebellar Ataxias |
Spinocerebellar ataxia |
Pubtator |
30778698 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Status Epilepticus |
Status Epilepticus |
BEFREE |
16828199 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| TARSAL-CARPAL COALITION SYNDROME |
Tarsal-Carpal Coalition Syndrome |
BEFREE |
29246610 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tremor |
Tremor |
Pubtator |
20562464 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Vision Disorders |
Visual disorder |
Pubtator |
32389998 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
|