SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT02725567 (10) NCT01614470 (10) NCT01423812 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NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT04625647 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT03058094 (3) NCT01282151 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00969137 (2) NCT00834665 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT04657289 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT04645225 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) 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Report for Clinical Trial NCT02512627

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

Evolving Methods to Combine Cognitive and Physical Training for Individuals With Mild Cognitive Impairment: An Efficacy Study

This study aims to investigate and compare the intervention effects of combining exercise and cognitive training (either sequentially or simultaneously in a dual-task paradigm) in elderly with mild cognitive impairment. The investigators hypothesize that (1) both sequential and dual-task training can induce greater improvements in the outcome measures than single mode of training; (2) the improvement in cognitive functions and other outcomes may differ between the groups.

NCT02512627 Mild Cognitive Impairment
MeSH:Cognitive Dysfunction
HPO:Cognitive impairment Mental deterioration

2 Interventions

Name: Cognitive training

Description: visuospatial, attention, memory, and executive abilities
Type: Behavioral
Group Labels: 3

Cognitive training group (Cog) Dual-task training group (Dual) Sequential training group (Seq)

Name: Physical exercise

Description: endurance, balance, and mobility
Type: Behavioral
Group Labels: 3

Dual-task training group (Dual) Physical exercise group (PE) Sequential training group (Seq)


Primary Outcomes

Description: The MoCA will be used to assess general cognitive functions. It examines several cognitive domains with a total score of 30.

Measure: Change scores of Montreal Cognitive Assessment (MoCA)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Stroop test will be used to assess the processing speed, inhibition, set-shifting, and selective attention abilities. The participants will be tested under 2 conditions: congruent and incongruent conditions. In the congruent condition, the color ink of a word is consistent with the written color name; while the color ink differs from the written color name under the incongruent condition.

Measure: Change scores of Stroop test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The dual-task tests will be assessed to determine the ability for an individual to perform 2 tasks simultaneously. The investigators will assess the dual-task performance during walking and performing box and block test. The results of the dual-task tests will provide information regarding to whether the 2 tasks compete for the same class of neural resources or one of the tasks can be carried out automatically.

Measure: Change scores of Dual-task test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The TUG test will be used to assess the mobility and dynamic balance ability. The participants will be required to stand up from a chair, walk 3 meters, turn around, then walk back to the chair, and sit down. The time to complete the TUG test has been shown to be a good indicator to detect potential fallers and frail elderly (Podsiadlo & Richardson, 1991). The test-retest reliability of TUG on individuals with cognitive impairment was excellent (Blankevoort, van Heuvelen, & Scherder, 2013).

Measure: Change scores of Timed up and go (TUG) test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Secondary Outcomes

Description: Verbal fluency tests will be used to evaluate the semantic memory of the participants. The participants will be instructed to say as many words as possible from a given category (i.e., fruit or animal) in 1 minute. The validity, reliability, and normative performance of verbal fluency tests have been well-established (Harrison, Buxton, Husain, & Wise, 2000).

Measure: Change scores of the Verbal Fluency Test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Useful field of view (UFOV) is the visual area over which useful information could be obtained at a quick glance without eye or head movements. This UFOV will be assessed with the BrainHQ program. The UFOV will assess the abilities of visuomotor processing speed, divided attention, and selective attention (Ball, Edwards, & Ross, 2007).

Measure: Change scores of the Useful Field of View (UFOV)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The 30 second chair stand test (CST) will be assessed to indicate the strength and endurance level of the lower extremities. The participants will be asked to stand up from a standardized chair and then sit down as many times as possible within 30 seconds. The feasibility and reliability of using CST in people with cognitive impairment have been established to be good (Blankevoort et al., 2013).

Measure: Change scores of the 30 second chair stand test (CST)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of the International Physical Activity Questionnaires (IPAQ) is an international measure for health-related physical activity. A short form of IPAQ will be used to assess changes in physical activity before and after intervention in this study. The reliability and validity of IPAQ has been established across 12 countries (Craig et al., 2003).

Measure: Change scores of the Chinese version of the International Physical Activity Questionnaires (IPAQ)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Assess activities of daily living

Measure: Change scores of the Barthel Index (BI)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Assess activities of daily living.

Measure: Change scores of the Lawton Instrumental Activities of Daily Living Scale

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Assess activities of daily living.

Measure: Change scores of the Disability Assessment for Dementia (DAD)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of QoLAD will be used.

Measure: Change scores of the Quality of Life in Alzheimer's Disease Instrument (QoLAD)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of CBI will be used.

Measure: Change scores of the Caregiver Burden Inventory (CBI)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of short form GDS will be used.

Measure: Change scores of the Geriatric Depression Scale (GDS)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The CIQ measures items relevant to home integration, social integration, and productive activities.

Measure: Change scores of the Community Integration Questionnaire (CIQ)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The actigraphy will be placed on the waist for a 3-day period immediately before and after the intervention. The participants will wear the actigraphy during all daily activities except for those that involve water (i.e., showering or swimming).

Measure: Change scores of the ActiGraph GX3 accelerometers Change scores of the ActiGraph

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The participant will be seated upright in a chair with back support, the knee will be placed in 90-degree flexion and the evaluator will stabilize the thing to eliminate synergistic movements. Participants will be asked to perform a maximal isometric contraction of knee flexion and extension with both lower extremities. The investigators will record the mean value of 3 attempts.

Measure: Change scores of evaluating isometric knee flexors and extensors muscle strength

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The participant is seated, with the elbow at 90-degree flexion. The investigators will record the mean value of 3 attempts.

Measure: Change scores of using hand dynamometer to measure grip strength of both hand

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The investigators will use the WMS-III subtests, including Faces Recognition (score range 0-48), Verbal Paired Associates (score range 0-32), Word Lists (0-48), and Spatial Span (0-32) to assess the immediate, delayed, and working memory tests. Higher scores indicated better performance for each subtest. The raw score of each subtest will also be transferred to standardized Z scores and summed to represent an index of general memory function.

Measure: Change scores of Wechsler Memory Scale - Third Edition (WMS-III)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The WAIS-III includes tests that evaluate cognitive functions in verbal comprehension, working memory, perceptual organization, and processing speed. The subtests that the investigators will use are the Digit Symbol-Coding (scores range 0-133) and Matrix Reasoning tests (0-26). The raw score of each subtest will also be transferred to standardized Z scores and summed to represent an index of general cognitive function.

Measure: Change scores of Wechsler Adult Intelligence Scale - Third Edition (WAIS-III)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Saliva samples will be collected at baseline to determine the Brain-Derived Neurotrophic Factor (BDNF) val66met genotype.

Measure: BDNF val66met genotype

Time: baseline

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 V66M

The raw score of each subtest will also be transferred to standardized Z scores and summed to represent an index of general cognitive function.. BDNF val66met genotype. --- val66met ---

Saliva samples will be collected at baseline to determine the Brain-Derived Neurotrophic Factor (BDNF) val66met genotype.. Inclusion Criteria: 1. able to follow instruction, 2. clinical dementia rating (CDR) = 0.5 or 1, 3. self- or informant-reported memory or cognitive complaint, and 4. able to perform activities of daily living (Barthel Index ≥ 70). --- val66met ---



HPO Nodes


HPO:
HP:0100543: Cognitive impairment
Genes 890
ACSF3 SPG11 NOTCH2NLC EEF1A2 ALDH18A1 TIMM8A GRID2 TRNK GDF5 TRNC DRD3 HNRNPA2B1 CNKSR2 HFE PRKRA GNAS APP STARD7 UCP2 NR4A2 APP EDN3 SLC5A7 MYORG SPG11 STXBP1 ITM2B ATXN10 ND1 ATP1A3 ARSA ATXN3 POLG ATXN8OS PEX11B PLP1 FKTN AARS1 ATP6 SLC30A9 DCX LRRK2 COMT GBA NDUFA6 ATG5 SCN1A VPS13C ROBO3 NF1 TBK1 POMK TREX1 ABCA7 PMPCA TYROBP PRKAR1B PIK3CA HCN1 TWNK GCH1 COL3A1 ATN1 TSC2 MTHFR TSC1 VCP L1CAM CFHR1 GABRA5 ITPR1 ADD3 LIPN ATP6V0A2 RNR1 UBQLN2 SLC1A2 PANK2 ATP6 SOST METTL23 MAPT TRNW MAPT KMT2A TMEM106B TTC19 ERCC3 SNCA MPO ERCC3 SCN1A CLN3 RRM2B MTO1 SCN1B CST3 ATP6V1E1 GRN PEX19 MFSD8 SMC3 SQSTM1 COQ2 ARL6IP6 CHD2 ZNF365 GALC HNF4A ADA2 ACTL6B PRDM8 SNCA RNF216 ERCC8 CENPJ KCNB1 NAGS PSAP SLC18A2 FA2H ABCA7 FAN1 PSEN2 ATXN1 COX1 MTOR CSF1R STXBP1 SDHA REEP2 FMR1 TREM2 ATXN2 SCO2 ARSA ERCC2 DCAF17 ATXN3 FBN1 GDNF ATXN7 ND4 KCND3 NRAS AP2M1 AUH MBTPS2 POLG IFT140 GRN RBM12 BAP1 KCNA2 MAG APP PRNP HNF1A COASY LAMA1 SMARCB1 A2M HTT MARS2 SLC25A15 CEP120 MSH6 CYP4F22 ERCC8 BSCL2 MEFV GJC2 HNRNPA2B1 GABRG2 SLC44A1 NOTCH3 JAM2 TRNK LAMA2 CYTB GABRA2 HMBS ABCC8 EIF2B3 NPC1 SYNGAP1 CREBBP PEX6 ATXN1 ZFYVE26 NPC2 ALMS1 CP VCP HTT IDUA LAMP2 TUBB4A FGF12 SQSTM1 EPM2A TRNS2 FKRP TREM2 PLA2G6 PSEN1 EPM2A IL12A-AS1 KLLN PINK1 SNORD118 TYMP SLC13A5 C12ORF65 UQCRC2 SPG7 HLA-DRB1 DGUOK STUB1 CENPE TSC2 BRAF JPH3 AASS C19ORF12 IL12A CEP152 PRKN WDR73 POLG2 KMT2B APP XPC CUX2 CHI3L1 NDP GALC ECM1 EIF2B5 PLP1 SORL1 TSFM FLNA DGUOK RBM28 SIGMAR1 TARDBP TTPA CACNA1A MAPT PEX10 GBA GBE1 SULT2B1 SDR9C7 KCTD7 TMEM106B GMPPB C12ORF65 XPA GNAS SIM1 RRM2B WWOX KATNB1 ATP13A2 SYNJ1 FMR1 DISC2 SPTBN2 PNKP TBP DCTN1 TP53 PLAA FGF14 HSD17B4 GCDH SNCA ADA2 SDHAF1 GTPBP3 APOL2 ALG2 CTSD TWNK CCM2 ATP7B DARS2 ALG9 DSG4 EP300 SPART STUB1 EIF2B4 PMS1 BBS5 TTC37 STAT4 KRT86 SPG21 PDE11A FAS TK2 NPHP1 DNMT1 LMNB1 WDR4 PCNT C9ORF72 KRT83 RAB39B CISD2 POLG DCC ERCC2 SCN1A PLA2G6 GJB6 SCN8A TK2 MLH1 HEPACAM CENPJ VCP SERPINI1 PARK7 COX3 GRIN2D LRRK2 USF3 CLN6 GNPTAB CTSK CERS1 MCOLN1 POLG ERF NBN PRKCG GRID2 DOLK GABRA1 MAPT NDUFAF3 CFH SPTBN2 WFS1 FA2H PSEN1 ERCC6 IBA57 UBTF MYO1H VPS37A CNTNAP2 PIK3CA UBA1 SEMA4A HTT SCN2A DMPK PSAP ERCC5 PRICKLE1 TRNS2 PRNP SURF1 LARS2 APP PSEN1 TREX1 VCP DNAJC6 GBA CHRNG IRAK1 POMT1 TRAK1 PEX12 BDNF ATP13A2 DNMT1 FUS CHD2 NDUFS2 HIBCH HTRA1 MAPT SCN1A CTSF ND5 ATXN3 DZIP1L VCP NUP107 PNKP GBA2 POLG TLR3 PRNP C9ORF72 SCN1B HNRNPA1 CTNS CYP2U1 SNCAIP ATN1 LAGE3 TBCK MLH3 TMEM106B GALC CP COL18A1 ALG13 GPC4 COX6B1 MAPT GDF6 GABRD TINF2 PSEN1 APOE TREM2 MYH3 ADGRV1 PINK1 TREM2 SPG7 MOG SCN3A SDHD GLB1 C9ORF72 WFS1 ASAH1 DCTN1 PRKAR1A AFG3L2 ATR PLA2G6 MAPT NOS3 KRT81 JPH3 ITPR1 RAB27A SLC6A1 ERCC4 UCHL1 TRNS1 ABCD1 ALOXE3 TRNH WDR45 ND6 TUBA4A TRNL1 GNE MEN1 VPS35 PNPLA6 SLC20A2 NECAP1 ERCC6 DDB2 GABRG2 RRM2B TRNS2 GRN ATP13A2 TTR AARS2 GJB2 DNM1 KCNJ11 IRF6 SYNJ1 C9ORF72 PTEN CSTB NFIA POMT2 OCRL PSAP PEX13 PRDX1 ABCA12 TGFBR2 PODXL SPAST CRLF1 CAMTA1 PDGFRB SQSTM1 CYP27A1 B3GALNT2 BAP1 COX1 TGM1 FOXG1 TIMM8A MYD88 GNAS CLTC PORCN PSEN1 PMS2 SEC23B POLG PDGFB PTS SCN9A CYP7B1 PKHD1 C9ORF72 SUMF1 RBBP8 PSEN1 SDHAF1 GABRB2 TRNL1 NOTCH2NLC SPG11 SLC2A1 MEOX1 DNAJC5 PEX2 CCDC78 PRKCG KRAS NTRK2 GLA AP5Z1 PDGFRB CDK19 TRNW OPA3 ITM2B CHMP2B SLC2A1 CYP2U1 ROGDI MATR3 GALC PDCD10 PEX26 BBS10 SLC25A4 ATP1A3 FGD1 CTC1 GBA GSN SCARB2 YWHAG IKBKG ADH1C VPS13A RNF216 APOE TRNS1 TRNH ABCD1 ATP13A2 HCN1 DARS2 COASY SCN2A TSC1 ATXN2 FTL ALOX12B MATR3 BBIP1 SLC7A7 DNM1L GNAS FBXO7 UGT1A1 ND1 DAOA ALS2 SUFU PEX3 TRNF APP DALRD3 PANK2 C4A QDPR TRNQ TOMM40 MPDU1 HTRA1 RBM28 TRNS1 PSEN1 SLC2A3 PEX1 PLP1 CHRM3 FGFR3 DNMT1 P2RY11 EPRS1 TRNQ PLK4 XRCC4 MAOA MECP2 CHMP2B CLCF1 TBK1 C9ORF72 TREM2 SUMF1 GM2A MSH2 GDF3 MMACHC GMPPB KCNT1 CUBN HLA-DQB1 PSEN2 SDHB SNCB GBA SPP1 AP3B2 APP PPT1 AKT1 TRNF VPS13C NUS1 NHLRC1 PEX16 TRAF7 GJC2 DNM1 TNFSF4 RNASEH1 CHCHD10 TYROBP RMRP TMEM240 VCP PLAU SNCA C19ORF12 DNAJC6 CLN5 SNCA HLA-DQB1 ERCC4 SCN8A PEX14 HTR2A TRNP ACTB PEX16 ND5 IDS PANK2 SPG21 CHMP2B C12ORF65 CLMP PPP2R2B NAGS DNAJC13 ARSA RPS20 SQSTM1 AP5Z1 CACNA1G FA2H SMO MAPT CSTB SCN9A SLC13A5 NHLRC1 AFG3L2 SNCA COL4A1 CHMP2B PSAP FGF14 ATM POLG PRNP MAPT NKX6-2 MAPT TRPM7 NDUFB8 SMC1A CREBBP VAMP1 PDGFB APOL4 ATP6V1A MTFMT ABCA5 CFAP43 EPCAM VPS13A IL10 PDGFRB PANK2 SDCCAG8 ATXN2 MAPT TARDBP SPG11 SDHD ATP1A2 CTNS TRNF PRNP SYNJ1 TUBB2B TBK1 ATRIP ATXN3 SDHB RNASEH1 VAMP1 ROGDI GBA2 SGPL1 RRM2B KRIT1 TRAIP NOTCH3 BBS12 XPR1 SMARCE1 MAPT ATP6V1A BSCL2 ARV1 PDE10A POMGNT1 SYN2 SRCAP HTRA2 SPAST SZT2 ND6 LRRK2 ATP13A2 PPP2R2B SLC18A2 MMACHC GBE1 TMEM240 IDS SMC1A FTL RIN2 OPA1 CACNA1B TRNQ HEXB ITGA7 DNAJC3 EIF2B2 MTHFR ALDH18A1 GBA MFN2 COA3 IL23R COX2 KCNC1 GRN SYNJ1 EIF4G1 NUP133 MAPT LTBP4 TRNE RTN4R PIK3CA LARGE1 TIMMDC1 PRDM8 PRNP SDHD SLC25A4 SLC25A13 SDHC GIGYF2 TLR4 APTX DLAT TERT PRNP DSTYK KIF5A GLUD2 PCDH19 CSF1R PPP3CA TBP AIFM1 WDR45 NF2 NF2 PDGFB GABRB3 HEXA TRNK STAT4 TPRKB TWNK HGSNAT CYFIP2 KCNA2 ALG12 TRNV TWNK OSGEP MAPK10 UBA5 CCR1 COX2 EIF2B1 UBAC2 PTPN22 TTC8 PARS2 BMPR1A FAS CFHR3 CHMP2B DHDDS CLN6 ERAP1 PLEKHG4 NAGLU TRNL1 GRN GDAP2 PEX5 PHOX2B AKT1 LYST GBA STX1B DMD CLN8 TP53RK XPA ND5 ATXN7 HSD17B10 TBP KLRC4 B3GALNT2 MAGEL2 PRNP LZTFL1 UBAP1 HCRT GM2A CTDP1 FUS TREM2 SEC61A1 NAGA GABRG2 COX3 NIPAL4 ADAMTSL4 PRNP SPR PAH CTSH POMT2 CHCHD10 ASAH1 CLN8 HLA-B SDHA
Protein Mutations 0
SNP 0
HP:0001268: Mental deterioration
Genes 500
SPG11 WDR45 NOTCH2NLC EEF1A2 ALDH18A1 ND6 TIMM8A TUBA4A TRNL1 TRNK VPS35 PNPLA6 TRNC SLC20A2 DRD3 NECAP1 ERCC6 HNRNPA2B1 CNKSR2 HFE GABRG2 APP RRM2B UCP2 TRNS2 NR4A2 GRN APP ATP13A2 MYORG TTR AARS2 DNM1 STXBP1 ITM2B ATXN10 ND1 KCNJ11 ARSA IRF6 ATXN8OS SYNJ1 C9ORF72 CSTB AARS1 ATP6 LRRK2 PSAP COMT PRDX1 GBA NDUFA6 PODXL VPS13C TBK1 PDGFRB SQSTM1 CYP27A1 TREX1 COX1 PMPCA TIMM8A TYROBP PRKAR1B HCN1 GNAS GCH1 ATN1 MTHFR CLTC VCP PSEN1 L1CAM GABRA5 PDGFB PTS ATP6V0A2 C9ORF72 SUMF1 UBQLN2 SLC1A2 PANK2 PSEN1 ATP6 SDHAF1 GABRB2 MAPT TRNW MAPT KMT2A TMEM106B NOTCH2NLC DNAJC5 SNCA MPO SCN1A NTRK2 CLN3 PDGFRB CDK19 TRNW RRM2B CST3 ATP6V1E1 GRN ITM2B MFSD8 CHMP2B SQSTM1 CHD2 GALC ROGDI HNF4A ADA2 ACTL6B MATR3 GALC PRDM8 SNCA RNF216 ERCC8 ATP1A3 KCNB1 CTC1 GBA PSAP FA2H SCARB2 ABCA7 YWHAG PSEN2 ADH1C VPS13A RNF216 APOE TRNS1 TRNH ABCD1 COX1 CSF1R COASY FMR1 TREM2 ATXN2 SCO2 ATXN2 ARSA FTL DCAF17 MATR3 DNM1L FBXO7 ND1 ATXN7 DAOA ND4 NRAS AP2M1 TRNF AUH MBTPS2 APP DALRD3 GRN PANK2 KCNA2 QDPR TRNQ APP TOMM40 PRNP HNF1A HTRA1 RBM28 TRNS1 PSEN1 A2M HTT SLC2A3 ERCC8 PLP1 BSCL2 DNMT1 HNRNPA2B1 MECP2 SLC44A1 NOTCH3 CHMP2B JAM2 TRNK TBK1 CYTB C9ORF72 TREM2 GABRA2 SUMF1 HMBS MMACHC ABCC8 NPC1 CUBN PSEN2 SYNGAP1 SNCB GBA CREBBP AP3B2 ZFYVE26 APP PPT1 TRNF VPS13C NPC2 NUS1 NHLRC1 VCP HTT IDUA TUBB4A FGF12 SQSTM1 EPM2A TRNS2 DNM1 TREM2 PLA2G6 CHCHD10 PSEN1 EPM2A TYROBP PINK1 SNORD118 TYMP VCP SLC13A5 PLAU SNCA C19ORF12 DNAJC6 CLN5 SNCA HLA-DQB1 SCN8A JPH3 C19ORF12 HTR2A PRKN ACTB APP CUX2 IDS SPG21 CHMP2B PPP2R2B CHI3L1 NDP DNAJC13 ARSA GALC SQSTM1 AP5Z1 PLP1 SORL1 FA2H MAPT CSTB SLC13A5 NHLRC1 SNCA DGUOK COL4A1 CHMP2B PSAP RBM28 TARDBP TTPA POLG PRNP CACNA1A MAPT MAPT GBA MAPT TRPM7 NDUFB8 CREBBP KCTD7 APOL4 ATP6V1A TMEM106B CFAP43 VPS13A PDGFRB RRM2B WWOX ATP13A2 SYNJ1 ATXN2 MAPT TARDBP FMR1 SPG11 ATP1A2 DISC2 CTNS SYNJ1 TBK1 TBP DCTN1 SDHB RNASEH1 ROGDI GBA2 SGPL1 GCDH SNCA ADA2 NOTCH3 XPR1 APOL2 CTSD ATP7B DARS2 MAPT EP300 ATP6V1A BSCL2 ARV1 PDE10A SYN2 HTRA2 SPAST SZT2 ND6 SPG21 LRRK2 ATP13A2 PDE11A PPP2R2B TK2 MMACHC DNMT1 GBE1 IDS LMNB1 SMC1A FTL OPA1 CACNA1B TRNQ C9ORF72 HEXB RAB39B CISD2 ERCC2 PLA2G6 MTHFR ALDH18A1 GBA MFN2 HEPACAM VCP COX2 SERPINI1 KCNC1 PARK7 GRN SYNJ1 COX3 EIF4G1 GRIN2D LRRK2 CLN6 CERS1 MCOLN1 NBN PRKCG MAPT TRNE RTN4R MAPT TIMMDC1 NDUFAF3 PRDM8 WFS1 PRNP FA2H PSEN1 SDHD ERCC6 GIGYF2 APTX DLAT UBTF PRNP CNTNAP2 GLUD2 HTT CSF1R PPP3CA TBP DMPK WDR45 PSAP PRICKLE1 PDGFB PRNP SURF1 GABRB3 APP HEXA PSEN1 TREX1 VCP GBA TWNK HGSNAT CYFIP2 KCNA2 TRNV TRAK1 MAPK10 UBA5 ATP13A2 DNMT1 COX2 FUS CHD2 NDUFS2 PARS2 HIBCH HTRA1 MAPT SCN1A CTSF ND5 CHMP2B DHDDS ATXN3 CLN6 VCP PLEKHG4 NAGLU GBA2 POLG TRNL1 TLR3 PRNP GRN GDAP2 HNRNPA1 LYST GBA SNCAIP ATN1 CLN8 TMEM106B GALC CP XPA ND5 ATXN7 HSD17B10 COL18A1 TBP COX6B1 MAPT PRNP TINF2 PSEN1 APOE TREM2 PINK1 UBAP1 TREM2 GM2A SCN3A GLB1 C9ORF72 WFS1 ASAH1 DCTN1 PRKAR1A PLA2G6 TREM2 MAPT NOS3 COX3 JPH3 RAB27A SLC6A1 ERCC4 PRNP PAH UCHL1 ABCD1 CHCHD10 ASAH1 CLN8 SDHA
Protein Mutations 3
K56M V158M V66M