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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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT04603885

Developed by Shray Alag, 2020-2021.
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 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