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) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (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) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) 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) 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) NCT01282151 (3) NCT03058094 (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) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (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) NCT00834665 (2) NCT00969137 (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) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (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) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (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) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (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) 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) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (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) 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) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (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) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (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) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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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) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (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) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT04603885

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Feasibility Testing a Randomized Controlled Trial of an mHealth-enhanced Exercise Program to Improve Cognition for T2DM Patients

Type 2 diabetes mellitus (T2DM) impairs the brain, leading to cognitive dysfunction, which carries substantial lifetime consequences. This highlights an urgent need to find effective therapeutic strategies to improve cognitive function among those with T2DM. Aerobic exercise enhances cognitive function among healthy subjects through increased release of BDNF. BDNF supports survival of existing neurons and promotes growth of new neurons and synapses. Emerging evidence suggests that reduced BDNF levels may exacerbate cognitive dysfunction associated with T2DM. Compared to drug delivery of BDNF, aerobic exercise is a low-cost, safe, and easily accessible path to increasing endogenous BDNF levels. One critical genetic variant that affects BDNF secretion and cognition is the BDNF Val66Met variant, which is a common missense polymorphism that results in a valine (Val) to methionine (Met) substitution at codon 66 located in exon IX of the BDNF gene. The Met allele alters intracellular processing, trafficking, packaging of pro-BDNF, and consequently interferes with the activity-dependent secretion of mature BDNF among Met carriers. In addition, previous research reported an influence of the Val66Met variant on the methylation level of the surrounding region. Carrying a G nucleotide (i.e., Val allele) will have an additional CpG site, and Val/Val homozygotes demonstrated a significant increase in methylation levels of four nearby CpG sites compared to Val/Met heterozygotes and Met/Met homozygotes. Because high BDNF gene methylation is associated with reduced BDNF mRNA levels, this may result in lower BDNF levels among Val/Val carriers. However, the transcription of promoter IV can be initiated by exercise, suggesting that epigenetic modulation of BDNF gene expression may be achieved by exercise. It is plausible that exercise may partly reverse transcriptional repression through dynamic DNA demethylation, but the interaction between DNA demethylation and Val homozygosity may be different from that in Met/Met and in Val/Met carriers, which could explain interpersonal differences in cognitive outcomes among these carriers following exercise training. So far, the evidence on the interplay of the Val66Met polymorphism, DNA methylation, and exercise on cognition among individuals with T2DM is still lacking. A total of 42 participants with T2DM will be randomized 2:1 to receive aerobic exercise intervention (n=28) or attention control (n=14) for 3 months. Both groups will receive weekly phone calls during the intervention and standard printed education materials regarding diabetes self-management. In addition to these interventions, the aerobic exercise group (i.e., experimental group) will also perform home-based walking exercise, while the attention control group will perform home-based stretching exercise. Trained students will monitor the exercise sessions for both groups at the Connected Health Platform (hereafter referred to as "platform"). Blood samples will be collected at baseline and three months. Outcomes of interest include post-intervention changes in plasma BDNF levels, BDNF DNA methylation executive function, memory, and processing speed. The study will evaluate the feasibility of the home-based exercise intervention. The study will also evaluate preliminary effectiveness of the supervised exercise program on of the exercise program on BDNF DNA demethylation. An exploratory aim is to explore the association of DNA demethylation with plasma BDNF levels and cognition.

NCT04603885 Diabetes Mellitus, Type 2, Cognitive Dysfunction, Epigenetics, Exercise
MeSH:Diabetes Mellitus, Type 2 Cognitive Dysfunction
HPO:Cognitive impairment Mental deterioration Type II diabetes mellitus

2 Interventions

Name: Aerobic exercise program

Description: A randomized controlled trial will be used to test the feasibility of a home-based exercise program to improve BDNF DNA demethylation among individuals with T2DM. A total of 42 participants will be randomized 2:1 to receive aerobic exercise intervention (n=28) or attention control (n=14) for 3 months. This ratio is used to offset an anticipated attrition imbalance across groups.
Type: Behavioral
Group Labels: 1

Aerobic exercise group

Name: Stretching exercise

Description: stretching exercise
Type: Behavioral
Group Labels: 1

Attention control group


Primary Outcomes

Measure: BDNF DNA demethylation in percentage

Time: Three months

Secondary Outcomes

Measure: Plasma BDNF levels in ng

Time: Three months

Description: Executive function will be measured by the Dimensional Change Card Sort Test. Test-retest reliability of the test is 0.88. Convergent validity and discriminant validity is -0.51 and 0.14, respectively.

Measure: Executive function

Time: Three months

Description: Episodic memory will be measured by the Picture Sequence Memory Test. Test-retest reliability of the test is 0.77. Convergent validity and discriminant validity is 0.69 and -0.08, respectively.

Measure: Episodic memory

Time: Three months

Description: Working memory will be measured by the List Sorting Working Memory Test. Test-retest reliability of the test is 0.77. Convergent validity and discriminant validity are 0.58 and 0.30, respectively.

Measure: Working memory

Time: Three months

Description: Processing speed will be measured by the Pattern Comparison Processing Speed Test. The test takes about 3 minutes to compete. Test-retest reliability of the test is 0.72. Convergent validity and discriminant validity is 0.49 and 0.12, respectively.

Measure: Processing speed

Time: Three months

Purpose: Supportive Care

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 V66M

One critical genetic variant that affects BDNF secretion and cognition is the BDNF Val66Met variant, which is a common missense polymorphism that results in a valine (Val) to methionine (Met) substitution at codon 66 located in exon IX of the BDNF gene. --- Val66Met ---

In addition, previous research reported an influence of the Val66Met variant on the methylation level of the surrounding region. --- Val66Met ---

So far, the evidence on the interplay of the Val66Met polymorphism, DNA methylation, and exercise on cognition among individuals with T2DM is still lacking. --- Val66Met ---



HPO Nodes


HPO:
HP:0100543: Cognitive impairment
Genes 877
SPG11 PRKRA PRDM8 KCNA2 VCP RBM12 SNCB MAPT ITGA7 RBM28 COMT PDE11A PRNP ERCC6 GRN BBS10 EEF1A2 HFE GBA2 PNKP MAPT GDNF SEC61A1 SYNJ1 TRNE SPG7 C19ORF12 SYNJ1 ATP1A3 NPC1 ATXN2 PEX11B FKRP WFS1 WWOX CYTB MFN2 AP5Z1 PRKN CHI3L1 ADH1C ACTB AUH IKBKG SCN1B DNAJC6 GDAP2 SPAST CHCHD10 POLG COASY PMPCA NPHP1 CUBN MLH3 NECAP1 PDGFB TSC2 PLA2G6 PINK1 ECM1 GABRA2 WDR45 NAGLU LIPN TRNQ NOTCH2NLC TRAK1 CSF1R COL18A1 VCP JAM2 ARSA TIMM8A HIBCH TREX1 TRNH B3GALNT2 UQCRC2 HGSNAT LYST ERCC3 ALG12 HSD17B4 GM2A MPO TSFM PRNP APP TREM2 CUX2 ADA2 CLN6 NAGS SCN2A CST3 ATP6V1A SQSTM1 PEX19 PANK2 BBS12 CTSH HNF4A GBA HCRT KLLN PCNT COL4A1 SLC13A5 CFHR3 PLP1 SLC2A1 TGFBR2 PSEN1 NRAS C12ORF65 RNASEH1 PCDH19 NOTCH3 REEP2 NR4A2 SURF1 PSAP ERCC2 TRNK CEP120 VAMP1 GNPTAB ERCC3 TBK1 DGUOK TARDBP MYO1H POLG TUBA4A ND5 LRRK2 SLC6A1 TMEM240 SPG21 SLC18A2 ARL6IP6 BAP1 PRKAR1A DNM1 CYP27A1 RAB27A GALC SMARCB1 PIK3CA PRDX1 A2M LAMA2 QDPR CYP4F22 ATP6 ABCA5 HLA-B VCP PLAA SNORD118 STXBP1 HNRNPA2B1 GABRG2 SQSTM1 HTRA1 AARS2 ABCA7 TSC1 ARV1 STXBP1 GALC FA2H DCTN1 PEX6 RRM2B ERAP1 TIMM8A CLN8 ADD3 SLC2A3 GTPBP3 SLC25A13 NDUFAF3 NTRK2 PPT1 TRNF CFHR1 MAPT B3GALNT2 VCP CHRNG NHLRC1 DNM1L HEXB IL12A AKT1 UCHL1 POLG HCN1 OCRL CYP2U1 CRLF1 HLA-DQB1 APOE STUB1 CHCHD10 MTHFR TRNL1 BBIP1 ATP7B IL23R COX1 NDUFA6 RBBP8 PARK7 NUP107 SLC25A4 CTC1 XPC GNAS PRNP LAMA1 PRNP GRN IRF6 ALG2 TMEM240 SPTBN2 TREX1 APP PDGFRB DSTYK NF2 PRNP AIFM1 EIF2B5 PRNP CDK19 GLUD2 PEX10 GJB6 SPTBN2 SULT2B1 GBA SDR9C7 IDUA PSEN1 CTSK XPA SIM1 ERF RNASEH1 SYNGAP1 PPP3CA CNTNAP2 GCH1 SNCA DAOA SPG11 SYNJ1 CYP2U1 TBK1 MAPT SPG7 SNCA ATM TBC1D24 SLC25A4 GCDH GBA APP PDGFRB DRD3 TTC19 TRNQ RRM2B SYNJ1 SPG21 BBS5 PRKCG TBP CCDC78 SPP1 KRT83 ADA2 MARS2 VCP ACSF3 PTPN22 ADAMTSL4 PHOX2B NAGS NUP133 JPH3 EPM2A CEP152 KRT81 HNF1A TK2 ROBO3 SCN1B GJC2 NFIA EPCAM TP53 EPM2A TMEM106B ALDH18A1 PRNP MATR3 VPS13C ND1 UBA5 MYD88 EIF4G1 PTEN EIF2B2 POLG2 GDF6 PRNP MTOR XPA SQSTM1 GABRG2 NDUFB8 TRNW TREM2 MEN1 BDNF GM2A PIK3CA UBA1 RNF216 RPS20 SCN9A ATXN10 KCTD7 MAOA GALC ERCC5 PRICKLE1 TRNF NDUFS2 APP TRNV TARDBP ATP1A3 MYH3 BRAF MAPT PAH CCM2 POMT2 DALRD3 PEX12 TREM2 SQSTM1 MAPK10 MBTPS2 POMT2 FA2H SDHAF1 SPAST RAB39B ATN1 SMC3 XRCC4 CTNS ARSA ATXN3 PKHD1 MAPT TPRKB POLG SCN9A HNRNPA2B1 SGPL1 COQ2 TBP NOTCH3 WDR4 SLC30A9 DNMT1 MSH6 RIN2 ITM2B MEOX1 GABRG2 APTX LMNB1 UBTF TNFSF4 ATP6V1A SDHB TREM2 CISD2 CENPJ HTRA1 ATP13A2 CCR1 ATP13A2 SMC1A PSEN1 NOS3 GSN DSG4 HEPACAM COL3A1 RMRP CHD2 KCNT1 HTRA2 TRNS2 ALOXE3 TRNS1 CAMTA1 TRNL1 TBP DNAJC13 PNPLA6 SCN8A PSEN2 ERCC8 TREM2 DDB2 FTL SNCA ACTL6B TYMP SNCA HTT GMPPB TTR CHD2 ABCC8 ITPR1 C9ORF72 CSTB COX3 MTO1 ZFYVE26 FKTN PEX13 NDP ABCA12 ATG5 LRRK2 TLR3 NKX6-2 MAPT SLC44A1 CLCF1 C12ORF65 TINF2 CREBBP C9ORF72 GMPPB BAP1 COX2 TGM1 SDHA GRID2 NHLRC1 GABRB2 FAN1 FOXG1 MSH2 SDHC TWNK GABRD CHMP2B TOMM40 GALC MAG ATRIP CHMP2B GDF5 SCN3A TRNK MATR3 CHMP2B GDF3 PEX2 TTC37 GRN DCC PPP2R2B CYFIP2 GLA NBN CACNA1B COASY ND1 SDCCAG8 CLN6 SDHD MECP2 ABCD1 DNAJC5 PDGFRB TREM2 CP PSAP SLC13A5 ATP6V1E1 SLC2A1 ATXN2 MYORG FBN1 PEX26 SLC20A2 FMR1 HLA-DQB1 TWNK FGD1 ATXN7 KATNB1 PRKCG SCARB2 PSAP GABRA5 CENPJ GRN FGFR3 TYROBP GNAS PSEN1 ATN1 POLG RNF216 SRCAP CHMP2B APOE DCX TRNS2 TRNS1 CLMP SCN1A HTT SDHA TUBB2B XPR1 ROGDI TK2 SNCA ATXN1 CREBBP SPG11 ALOX12B APP OPA1 MAPT RRM2B CACNA1G GJB2 GNAS GBA2 ITM2B C9ORF72 WFS1 ND4 PDE10A APP APOL2 GBA ATXN3 SUFU CTDP1 PEX3 AASS TBCK PANK2 UBAP1 PSEN2 GRIN2D MFSD8 UBAC2 CP COX1 PRNP SORL1 CLN8 EIF2B1 UBQLN2 GNE ND6 OPA3 HEXA MAPT PEX1 CTNS APP ZNF365 TRNH DGUOK MMACHC CENPE CERS1 ALMS1 ALDH18A1 DNAJC3 TRNK TBK1 TYROBP SOST SPR TWNK KRAS SUMF1 MOG PIK3CA IRAK1 HTT SLC1A2 LZTFL1 SEC23B TRNP CLTC ASAH1 ASAH1 CPLX1 ALG13 TRAF7 HSD17B10 GJC2 GBE1 KCNB1 P2RY11 FTL C9ORF72 PLA2G6 ERCC8 PSEN1 MAPT DMD POLG PSEN1 PLAU FBXO7 FGF14 MAPT UCP2 ERCC4 SNCAIP AARS1 LARGE1 PEX14 DISC2 ND5 PTS PEX16 EPRS1 TRNL1 FLNA AP2M1 MLH1 GLB1 SPART GIGYF2 PSAP KLRC4 VPS37A IL12A-AS1 C9ORF72 TSC1 KCNC1 ATP13A2 SMO PDCD10 SMC1A GABRA1 PINK1 PPP2R2B HMBS MAPT FA2H GRID2 PSEN1 STAT4 TRPM7 SLC5A7 SCO2 IFT140 VAMP1 BMPR1A PDGFB SYN2 ATP6V0A2 PANK2 KCND3 PMS1 MCOLN1 MTFMT ROGDI DNMT1 KCNJ11 FUS ATP1A2 SCN1A TRAIP SERPINI1 CFH HNRNPA1 SDHD VPS13C TSC2 ATP6 CSF1R PLK4 TRNQ SMARCE1 DCTN1 AP3B2 CACNA1A AP5Z1 TIMMDC1 POMT1 RTN4R PODXL FGF12 TRNF ATP13A2 KRIT1 PLEKHG4 CTSD ATXN7 PDGFB C9ORF72 ATXN3 TTPA PNKP GNAS KMT2A MAGEL2 CLN5 NPC2 PARS2 DARS2 JPH3 KMT2B ERCC2 DCAF17 HTR2A LRRK2 DOLK VCP IL10 COX3 ITPR1 ATP13A2 FAS TMEM106B SNCA VPS35 NAGA EP300 POMK GRN MTHFR DNMT1 SLC18A2 USF3 POMGNT1 GABRB3 PRDM8 KIF5A TRNS2 ATXN3 SDHAF1 LARS2 SDHD MEFV CSTB HCN1 ERCC6 TERT COX2 TWNK ERCC4 CHRM3 GBA SCN2A DHDDS EIF2B4 PRKAR1B NF2 DNM1 AFG3L2 PANK2 RBM28 OSGEP BSCL2 RNR1 SCN8A FAS AFG3L2 LAGE3 SLC25A15 NUS1 KCNA2 ATR METTL23 DNAJC6 KRT86 TP53RK SCN1A GPC4 YWHAG STAT4 PLA2G6 GBA EIF2B3 BSCL2 CNKSR2 SEMA4A CYP7B1 VPS13A STARD7 VPS13A STUB1 SZT2 CLN3 CTSF ATXN2 DZIP1L TLR4 MAPT APOL4 GBE1 FGF14 TRNW CHMP2B TRNC PORCN PEX5 EDN3 AKT1 ALG9 PEX16 ADGRV1 IBA57 LTBP4 WDR73 C12ORF65 ND6 WDR45 ATXN1 ATXN8OS SUMF1 CFAP43 C4A DARS2 POLG FMR1 LAMP2 HLA-DRB1 ND5 TTC8 TUBB4A RRM2B SCN1A ARSA NOTCH2NLC SLC7A7 ABCA7 DMPK STX1B UGT1A1 C19ORF12 PMS2 NIPAL4 TMEM106B MPDU1 TRNS1 GBA SDHB
Protein Mutations 0
SNP 0
HP:0001268: Mental deterioration
Genes 494
PRDM8 KCNA2 VCP TRNL1 TBP SNCB DNAJC13 PNPLA6 MAPT RBM28 COMT PDE11A SCN8A PSEN2 ERCC8 PRNP ERCC6 GRN TREM2 EEF1A2 FTL HFE SNCA GBA2 ACTL6B TYMP SNCA HTT MAPT TTR CHD2 SYNJ1 TRNE C19ORF12 SYNJ1 NPC1 ABCC8 ATXN2 WFS1 C9ORF72 CSTB WWOX COX3 CYTB MFN2 ZFYVE26 PRKN NDP CHI3L1 ADH1C ACTB LRRK2 AUH TLR3 MAPT DNAJC6 GDAP2 SLC44A1 CHCHD10 TINF2 CREBBP C9ORF72 COX2 SDHA PMPCA CUBN NECAP1 PDGFB NHLRC1 GABRB2 PLA2G6 PINK1 GABRA2 WDR45 NAGLU CHMP2B NOTCH2NLC TOMM40 GALC TRAK1 CSF1R CHMP2B COL18A1 VCP SCN3A JAM2 ARSA TIMM8A HIBCH TREX1 TRNH MATR3 CHMP2B HGSNAT LYST GRN MPO PRNP APP TREM2 CUX2 PPP2R2B CYFIP2 NBN CACNA1B COASY ND1 ADA2 CLN6 CST3 ATP6V1A SQSTM1 CLN6 MECP2 ABCD1 DNAJC5 PDGFRB TREM2 PSAP SLC13A5 HNF4A ATP6V1E1 ATXN2 MYORG GBA SLC20A2 FMR1 COL4A1 HLA-DQB1 SLC13A5 ATXN7 PLP1 SCARB2 PSAP GABRA5 GRN PSEN1 TYROBP PSEN1 ATN1 RNF216 CHMP2B NRAS APOE TRNS2 TRNS1 NOTCH3 HTT XPR1 ROGDI NR4A2 TK2 SURF1 SNCA PSAP CREBBP SPG11 TRNK APP OPA1 MAPT RRM2B TBK1 DGUOK GBA2 ITM2B WFS1 TARDBP ND4 PDE10A POLG APP APOL2 GBA TUBA4A ND5 LRRK2 SLC6A1 SPG21 PANK2 UBAP1 PSEN2 GRIN2D MFSD8 PRKAR1A DNM1 CP COX1 PRNP SORL1 CLN8 UBQLN2 CYP27A1 ND6 RAB27A GALC HEXA PRDX1 MAPT A2M QDPR ATP6 APP MMACHC VCP CERS1 SNORD118 ALDH18A1 HNRNPA2B1 TRNK TBK1 TYROBP GABRG2 SQSTM1 HTRA1 AARS2 SUMF1 ARV1 STXBP1 GALC FA2H DCTN1 HTT SLC1A2 RRM2B TIMM8A CLN8 CLTC ASAH1 ASAH1 CPLX1 SLC2A3 HSD17B10 NDUFAF3 NTRK2 PPT1 TRNF GBE1 KCNB1 MAPT FTL VCP C9ORF72 PLA2G6 NHLRC1 DNM1L HEXB ERCC8 UCHL1 PSEN1 POLG MAPT HCN1 PSEN1 PLAU FBXO7 APOE MAPT CHCHD10 UCP2 MTHFR SNCAIP AARS1 TRNL1 ATP7B COX1 NDUFA6 DISC2 PARK7 PTS CTC1 AP2M1 GLB1 PRNP GIGYF2 PSAP GRN IRF6 C9ORF72 TREX1 APP PDGFRB KCNC1 ATP13A2 SMC1A PINK1 PPP2R2B HMBS PRNP MAPT FA2H PRNP CDK19 GLUD2 PSEN1 TRPM7 SCO2 GBA SYN2 ATP6V0A2 IDUA PSEN1 PANK2 MCOLN1 RNASEH1 SYNGAP1 ROGDI PPP3CA CNTNAP2 DNMT1 KCNJ11 FUS GCH1 SNCA ATP1A2 DAOA SPG11 SYNJ1 TBK1 MAPT SCN1A SNCA SERPINI1 HNRNPA1 SDHD TBC1D24 VPS13C GCDH GBA APP ATP6 CSF1R PDGFRB DRD3 TRNQ TRNQ SYNJ1 DCTN1 SPG21 AP3B2 CACNA1A AP5Z1 TIMMDC1 PRKCG RTN4R TBP PODXL FGF12 TRNF ATP13A2 ADA2 VCP PLEKHG4 CTSD ATXN7 PDGFB C9ORF72 JPH3 EPM2A TTPA GNAS KMT2A CLN5 NPC2 PARS2 DARS2 JPH3 HNF1A ERCC2 DCAF17 HTR2A LRRK2 EPM2A VCP TMEM106B COX3 ALDH18A1 PRNP MATR3 ATP13A2 VPS13C TMEM106B SNCA ND1 VPS35 UBA5 EIF4G1 EP300 PRNP XPA GRN SQSTM1 MTHFR DNMT1 NDUFB8 GABRB3 TRNW PRDM8 TRNS2 TREM2 SDHAF1 CSTB ERCC6 COX2 TWNK GM2A ERCC4 RNF216 GBA ATXN10 DHDDS PRKAR1B KCTD7 GALC PRICKLE1 NDUFS2 DNM1 APP TRNV RBM28 BSCL2 TARDBP ATP1A3 NUS1 KCNA2 MAPT PAH DALRD3 SCN1A YWHAG TREM2 PLA2G6 SQSTM1 MAPK10 GBA MBTPS2 BSCL2 FA2H CNKSR2 SPAST RAB39B VPS13A ATN1 VPS13A CTNS ARSA SZT2 ATXN3 CLN3 MAPT CTSF ATXN2 MAPT APOL4 TRNW CHMP2B TRNC HNRNPA2B1 SGPL1 TBP NOTCH3 DNMT1 ND6 WDR45 ATXN8OS SUMF1 CFAP43 ITM2B FMR1 APTX LMNB1 UBTF ND5 ATP6V1A TUBB4A TREM2 CISD2 RRM2B ARSA HTRA1 ATP13A2 NOTCH2NLC ABCA7 PSEN1 NOS3 DMPK C19ORF12 HEPACAM TMEM106B CHD2 HTRA2 TRNS1 GBA SDHB
Protein Mutations 3
K56M V158M V66M