CovidResearchTrials by Shray Alag


CovidResearchTrials Covid 19 Research using Clinical Trials (Home Page)


Telephone interviewWiki

Developed by Shray Alag
Clinical Trial MeSH HPO Drug Gene SNP Protein Mutation


Correlated Drug Terms (1)


Name (Synonyms) Correlation
drug852 Enoxaparin Wiki 0.33

Correlated MeSH Terms (2)


Name (Synonyms) Correlation
D003704 Dementia NIH 0.50
D060825 Cognitive Dysfunction NIH 0.35

Correlated HPO Terms (2)


Name (Synonyms) Correlation
HP:0000726 Dementia HPO 0.50
HP:0001268 Mental deterioration HPO 0.35

There is one clinical trial.

Clinical Trials


1 Cognitive Outcomes During COVID-19 confiNemeNt in Elderly and Their Caregivers Using Technologies for DEMentia

Coronavirus disease 2019 has forced worldwide the implementation of unprecedented restrictions to control its rapid spread and mitigate its impact. The Spanish government has enforced social distancing, quarantine and home confinement. This restriction of daily life activities and separation from loved ones may lead to social isolation and loneliness with health-related consequences in community-dwelling older adults with mild cognitive impairment or mild dementia and their caregivers. Additionally, an inadequate access to healthcare and social support services may aggravate chronic conditions. Technology home-based interventions emerge for combating social isolation and loneliness preventing the risk of viral exposure. The aim of this multicentre cohort study is to explore, analyze and determine the impact of social isolation on: 1) cognition, quality of life, mood, technophilia and perceived stress of community-dwelling older adults with mild cognitive impairment or mild dementia, and on caregiver burden; 2) health and social care services access and utilization, and 3) cognitive, social and entertainment use of ICTs. This study will be conducted in two Spanish regions Andalucía (Málaga) and Cataluña (Tarrasa). In total 414 dyads, consisting of a person with mild cognitive impairment or mild dementia (PMCI/MD) and their informal caregiver will be contacted by telephone. Potential respondents will be participants of the SMART 4 MD (N=2921), TV-AssistDem (N=100) and INFINITy (N=23) clinical trials. The change in means in the variables will be analyzed comparing baseline results in the previous studies with those during and after confinement using the ANOVA test of repeated measures or the non-parametric Friedman test if appropriate. The performance of a multivariate analysis of variance (ANCOVA) to introduce possible covariates will also be contemplated. A 95% confidence level will be used.

NCT04385797 Mild Cognitive Impairment Dementia Other: Telephone interview
MeSH:Dementia Cognitive Dysfunction
HPO:Cognitive impairment Dementia Mental deterioration

Primary Outcomes

Description: The Mini-Mental State Examination (MMSE) (23) will be used to assess the cognitive function of the PMCI/MD. The most common cutoff scores for cognitive impairment and dementia are ranging 23 to 27 over 30. As telephone call interviewing will be the safest means to communicate with the PMCI/MD during and after the COVID-19 pandemic the 22 items telephone version of the MMSE will be used (24). All points of the MMSE can be covered in the telephone version except the last section assessing language and motor skills. In the phone version, we will ask the subject to repeat a phrase and name one item (For example: "Tell me, what is the name of the object you are using to talk to me?"). However, a second item will be not be named, nor will be the person be asked to follow a three-stage command, read and obey a sentence, write a sentence, or copy an intersecting pentagon as in the original version.

Measure: Change on cognitive function in people with mild cognitive impairment or mild dementia prior to, during and after confinement.

Time: Through study completion, an average of 6 months

Secondary Outcomes

Description: The Quality of Life-Alzheimer's Disease Scale (QoL-AD) (19-22) is an instrument specifically designed to measure QoL in PMCI/MD from the perspective of both the patient and the informal caregiver. It is a 13-item measure, which includes assessments of the person´s relationships with friends and family, financial situation, physical condition, mood, memory, and an overall assessment of life quality. Response are 4-point multiple choice options (1 = poor, 2= fair, 3= good, 4 = excellent). Scale scores range from 13 to 52, with higher scores indicating greater quality of life. When cognitive function may be compromised, informal caregivers will complete the QoL-AD, on behalf of the PMCI/MD.

Measure: Change on quality of life in Alzheimer´s Disease in people with mild cognitive impairment or mild dementia prior to, during and after confinement.

Time: Through study completion, an average of 6 months

Description: The European Quality of Life 5 Dimensions 3 Levels (EuroQoL-5D-3L) is a standardized generic instrument consisting of a descriptive system and a visual analogue scale (VAS). The descriptive system comprises 5 dimensions covering mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 3 levels: no problems, moderate problems and extreme problems. A 1-digit number expresses the level selected for that dimension. The digits can be combined into a 5-digit number that describes the patient's health state. The VAS records the patient's self-rated health on a vertical scale, where the endpoints are 100 = 'The best health you can imagine' and 0 = 'The worst health you can imagine'. EuroQoL-5D-3L has been shown to correlate well with QoL-AD, indicating that using both measures side-by-side is compatible.

Measure: Change on quality of life in people with mild cognitive impairment or mild dementia prior to, during and after confinement.

Time: Through study completion, an average of 6 months

Description: The Short Form of the Geriatric Depression Scale (GDS) (25) will be used to assess mood. Of the 15 items, 10 indicate depression when answered positively, while the rest (1, 5, 7, 11, 13) when answered negatively. Scores of 0-4 are considered normal, 5-8 indicate mild depression, 9-11 moderate depression, and 12-15 severe depression.

Measure: Change on mood in people with mild cognitive impairment or mild dementia prior to, during and after confinement.

Time: Through study completion, an average of 6 months

Description: The Instrument for Measuring Older People's Attitudes Toward Technology (TechPH) measures older people's attitudes and enthusiasm for health technology (26). This instrument refers to technophilia as a person's enthusiasm for and positive feelings toward their technology use and absence of the fears and doubts some older people could have about their ability to manage using new technology. The six items of the instrument measure two factors of technophilia: 3 items concerning techEnthusiasm and 3 items techAnxiety. Response are constructed with a five-point Likert scale questionnaire, ranging from 1 (fully disagree) to 5 (fully agree).

Measure: Change on technophilia in people with mild cognitive impairment or mild dementia prior to, during and after confinement.

Time: Through study completion, an average of 6 months

Description: The Perceived Stress Scale (PSS) measures the degree to which situations in one's life are appraised as stressful. The scale has 10 questions regarding feelings and thoughts during the last month and are rated according to frecuency 0 = Never 1 = Almost Never 2 = Sometimes 3 = Fairly Often 4 = Very Often. PSS scores are obtained by reversing responses (e.g., 0 = 4, 1 = 3, 2 = 2, 3 = 1 & 4 = 0) to the four positively stated items (items 4, 5, 7, & 8) and then summing across all scale items

Measure: Change on perceived stress in people with mild cognitive impairment or mild dementia during and after confinement.

Time: Through study completion, an average of 6 months

Description: The Zarit Burden Interview (ZBI-12) is a 12-item scale with each answer chosen from a 5-point Likert scale (Nearly always=4, Quite frequently=3, Sometimes=2, Rarely=1, Never=0). It is a shortened version of the original scale, was developed specifically for informal caregivers of PMCI/MD and covers issues such as caregiver stress and the degree to which caring is affecting their health and social life. Total score range 0 to 48 (0-10= no to mild burden, 10-20= mild to moderate burden >20= high burden).

Measure: Change on caregiver burden prior to, during and after confinement.

Time: Through study completion, an average of 6 months

Description: The Client Service Receipt Inventory (CSRI) (32,33) scale will be used to evaluate the service utilization. This scale is an internationally used method for gathering data on service utilization and other domains relevant for economic analysis of mental health care. It has five sections: background client information, accommodation and living situation, employment history, earnings and benefits, a record of services usually used and information about informal caregiver support. The sections assessed will be consultations, admissions and visits, grouped into subsections according to hospital, specialist, primary or home care. Treatment related to hospital admissions or illness exacerbation will also be assessed. It´s adaptability ensures it is compatible with the research aims, context, participants' likely circumstances, and the quantity and precision of information required.

Measure: Change on healthcare and social support services access prior to, during and after confinement.

Time: Through study completion, an average of 6 months

Description: Use of ICTs (SmartPhone, Tablet, Computer, Smart-TV, or other) to contact healthcare and social support services, to stimulate cognition, to facilitate social connectedness (telephone call, video call, texting...), to access COVID-19 information and to enable entertainment.

Measure: Change from health, cognitive, social, informative and entertainment related uses of ICT during and after confinement.

Time: Through study completion, an average of 6 months


Related HPO nodes (Using clinical trials)


HP:0100543: Cognitive impairment
Genes 871
PDGFRB FGFR3 CAMTA1 GLB1 CHD2 EDN3 SYNJ1 CLN6 FMR1 TOMM40 GBA SLC13A5 REEP2 COX1 DAOA TSFM XPA EPCAM SPTBN2 PLAU MEFV ATP1A3 PINK1 TBP COASY MAPT UCHL1 CHD2 TSC1 TYMP SLC13A5 SCN8A SCN8A RBM12 SNCA PEX1 GLA CHMP2B CCR1 WWOX TRNL1 ND4 PDGFB MLH3 MSH2 NUP133 APOL2 NR4A2 KCNQ3 VPS13A CFH GIGYF2 WDR45 DNMT1 AKT1 SDHB TRNL1 TTPA GBA PDGFRB XRCC4 CCDC78 PEX10 NUP107 MAPT CACNA1B CHRNG MAG KCNT1 HGSNAT C4A ERCC2 ALDH18A1 VPS13C SCN8A GABRG2 ABCA12 SQSTM1 PLP1 PEX12 CUX2 FA2H PNKP ALDH18A1 ARSA ROGDI MAPT WFS1 PTPN22 MFSD8 PSEN2 JAM2 DGUOK LZTFL1 DCAF17 SUFU SCN1B NHLRC1 EEF1A2 KCNB1 UBQLN2 GNAS SDHD HTRA1 NF2 FAS ZFYVE26 HNRNPA2B1 NPC1 CTC1 MYH3 SLC2A3 TARDBP DNMT1 SEC61A1 PSAP PLA2G6 TTC19 CLN5 POLG SMO HNF1A SNCAIP LRRK2 PRKCG TRNW ATP7B CLTC PRDM8 SUMF1 BAP1 B3GALNT2 TSC2 IRF6 SPG7 COMT CYP2U1 GALC CHMP2B STAT4 ALG9 DNMT1 IL23R PLAA ERAP1 UBA5 ATP13A2 DMPK NOS3 UQCRC2 RBM28 NPHP1 DNAJC5 TGM1 DOLK NKX6-2 MSH6 WFS1 PMS1 CFHR1 ATN1 POLG DCC OPA3 PRKAR1A TRNF SEC23B PARS2 RBM28 IRAK1 CHRM3 RAB39B DNAJC6 GSN ND6 AKT1 RRM2B MAPT GALC HLA-B SDHD POLG TTC8 LMNB1 COL18A1 DDB2 APP ATXN7 PLK4 ERCC4 PRKRA SLC2A1 PSEN1 SCN9A PRDX1 ERCC6 EIF2B1 PEX13 SNCA MEOX1 FA2H RPS20 PTEN NOTCH3 FGF12 COL5A2 NDUFAF3 TREM2 BBS10 ATR TRAIP SLC7A7 SCN2A TIMM8A FTL GDAP2 PAH MAPT EIF4G1 AP5Z1 KCNA2 NBN ERCC4 DNM1L ND6 ADA2 KRT6A GNAS TRNL1 MTO1 LIPN SCN1B ALG2 FGF14 CST3 CTSH ND1 SDR9C7 SDHD ITPR1 C9ORF72 HNRNPA2B1 DNM1 PIK3CA DRD3 EIF2B3 CHCHD10 TREX1 SCN3A GPC4 ATXN10 CEP152 NAGS NDUFB8 PSEN1 GBA2 CHMP2B PEX16 PMS2 POLG UBTF TRNF MAOA ERCC5 SYNJ1 ATXN8OS SNCA CYP4F22 FUS PLA2G6 SLC18A2 SNCA TBCK ARSA PIK3CA PPP2R2B PDE10A KRT81 ND1 SPG11 GALC SCN1A MTHFR IFT140 GJB6 JPH3 GRID2 PODXL SPAST ABCD1 SLC2A1 DISC2 C9ORF72 PEX19 FKTN GABRA1 BBS12 COASY BDNF LRRK2 GBA CYTB NAGLU PHOX2B PPT1 POMGNT1 RNF216 KCNJ11 TGFBR2 MARS2 COL4A1 HCRT PLEKHG4 APP MMACHC MBTPS2 TMEM106B ABCA7 SDHAF1 AFG3L2 IKBKG POMT1 POLG MFN2 VPS37A SEMA4A HEXA ATP6V0A2 TWNK POLG2 WDR45 DGUOK HTRA2 TMEM240 TRNS2 CYFIP2 EIF2B5 TBC1D24 PRDM8 VPS35 UBA1 CYP7B1 ATXN3 HTT SYNJ1 TRAF7 GMPPB CACNA1G GRN PIK3CA EPRS1 PNPLA6 TYROBP TBK1 TREM2 BAP1 CRLF1 PINK1 PEX11B BSCL2 GRN MAPT VCP VAMP1 BMPR1A CENPJ ERCC3 TARDBP SLC6A1 SMC3 TBK1 ERF PRICKLE1 MEN1 APOE ROGDI POLG GNPTAB PSEN1 ATRIP BBS5 NDUFA6 APP ATM PRKAR1B STAT4 PRNP B3GALNT2 ATP6 SQSTM1 SMC1A CENPJ ADAMTSL4 ACTB GBA ACSF3 SMARCB1 SPART SPG11 CERS1 SQSTM1 STXBP1 TUBB4A APP PRNP C9ORF72 ITGA7 CNTNAP2 MLH1 ATXN2 DCTN1 ALOX12B ABCA7 PRNP SLC20A2 ARL6IP6 RBBP8 PPP2R2B VCP TMEM106B CFAP43 AFG3L2 MTFMT APP SCN1A ATXN7 ATP6V1E1 KCNQ3 PDE11A SUMF1 PSAP GABRA5 C12ORF65 ATXN1 SMARCE1 C12ORF65 FAS MTOR POMT2 GM2A MCOLN1 KCND3 GBE1 ATP1A2 LAGE3 SLC30A9 PRNP CFHR3 DSTYK HEPACAM DNAJC13 HTT POMK TNFSF4 EIF2B4 PSAP HLA-DRB1 TREM2 OCRL NOTCH3 IL12A-AS1 CNKSR2 CTSK SCN1A AARS2 SLC1A2 VPS13C GABRG2 RRM2B UGT1A1 PSEN1 ADGRV1 SMC1A ERCC3 TRNC KMT2B MAPT GDNF EPM2A WDR4 C19ORF12 SYNJ1 CP ADD3 TRNK TRNK TRAK1 XPC HLA-DQB1 KLRC4 ERCC8 LRRK2 PEX6 HSD17B10 PRNP TRNQ COQ2 ATXN3 GABRA2 SCO2 NDUFS2 KMT2A PSEN2 GNAS SPG11 FGD1 TLR3 MYD88 TRPM7 GBE1 SNCA GCH1 GJC2 UBAP1 COX3 GRN FTL FMR1 TUBA4A MAPT ZNF365 ROBO3 KIF5A LAMA2 ATXN1 APTX MAPT DMD GBA LAMP2 SDHC SLC25A4 TRNS1 CCM2 TBP GALC KCTD7 CISD2 TRNQ APOE GBA SLC18A2 SPP1 PRNP TBP HFE PRRT2 CLN3 QDPR STUB1 TRNS1 CHCHD10 TWNK ARSA TRNH NAGS C9ORF72 CACNA1A MAPT DARS2 PEX14 CP PORCN RNR1 RNF216 IL12A AP5Z1 SDHAF1 MAPT C12ORF65 GABRG2 XPR1 SGPL1 KRT16 TSC1 METTL23 MYORG CEP120 GRN GCDH RNASEH1 ADA2 PDGFRB ATXN2 HTR2A NECAP1 SZT2 CLN6 KRT86 SLC25A15 AARS1 TRNS2 SPG7 OSGEP UCP2 PSAP ALG12 A2M EPM2A YWHAG CSTB COX1 CHMP2B ND5 NFIA TRNH JPH3 ITPR1 TIMM8A IDUA PCDH19 PTS KCNA2 GABRD TRNS2 SULT2B1 CYP2U1 PRNP FBXO7 NDP RMRP LTBP4 GRN TK2 GJB2 FBN1 ERCC2 FGF14 TUBB2B P2RY11 COX2 DHDDS RAB27A KCNQ2 CTNS DNAJC3 MECP2 ATP6 TMEM106B SNORD118 HCN1 PEX2 RTN4R SLC25A4 ASAH1 SCN2A SYNGAP1 BRAF OPA1 GBA ATP13A2 CTSD PNKP HNRNPA1 ABCA5 ATXN3 ADH1C SLC25A13 CHI3L1 PDGFB SIM1 ACTL6B GDF6 CSF1R CTNS TRNP SRCAP TRNQ SURF1 ATP6V1A CLCF1 NAGA MAPT GMPPB ATP1A3 RRM2B MATR3 PDCD10 DSG4 PANK2 KCNC1 HTT SCN9A PEX5 HSD17B4 NRAS RRM2B CTDP1 BSCL2 AUH MPO GDF3 ATXN3 HIBCH SERPINI1 CPLX1 SCN2A NTRK2 MYO1H PEX26 ITM2B COX3 PRNP CLN8 CSTB TTC37 NPC2 SQSTM1 TRNV NIPAL4 HTRA1 RNASEH1 CYP27A1 TWNK ABCC8 UBAC2 STARD7 AP2M1 POLG TPRKB ATP13A2 SPG21 PRKCG ATN1 GTPBP3 FKRP SYN2 PARK7 PCNT PDGFB NOTCH2NLC KCNQ2 TREM2 EIF2B2 ALOXE3 TRNK TSC2 AP3B2 TLR4 PANK2 APOL4 SOST KATNB1 STXBP1 VCP FAN1 NUS1 TREM2 CENPE PSEN1 TYROBP AASS PANK2 TWNK MATR3 ATP6V1A SNCA GNE TERT KLLN GRIN2D CSF1R TTR DNM1 ATG5 COX2 PANK2 TRNF SDHA XPA SORL1 ATXN2 GNAS SCARB2 GJC2 APP GM2A ATP13A2 TK2 KRT83 DARS2 IL10 FLNA SPR PSEN1 VCP ATP13A2 BRAF ITM2B IBA57 NHLRC1 HCN1 TINF2 CLN8 TBK1 LARGE1 VPS13A ARV1 RIN2 ASAH1 HNF4A APP COL5A1 HEXB CTSF LAMA1 TRNW VAMP1 SDCCAG8 WDR73 C19ORF12 BBIP1 MOG SPG21 SDHA PRKN TP53 KRT17 TP53RK KRAS TIMMDC1 SPTBN2 ND5 SPAST PPP3CA SNCB GABRB2 CUBN COL1A1 HLA-DQB1 STX1B SDHB MPDU1 C9ORF72 TREX1 DCTN1 SLC5A7 CLMP FA2H PSEN1 VCP TRNE PEX16 GABRB3 GBA2 USF3 TRNS1 TMEM240 STUB1 C9ORF72 ND5 GDF5 PEX3 POMT2 VCP PRNP CHMP2B GRID2 MAPT SCN1A MAPK10 KRIT1 KRT6B ECM1 PLA2G6 AIFM1 ALG13 PGM3 COL3A1 GLUD2 DNAJC6
Protein Mutations 0
SNP 0
HP:0000726: Dementia
Genes 290
C9ORF72 HNRNPA2B1 DNAJC13 HTT CHCHD10 HNRNPA1 CLN6 FMR1 PSAP ATXN10 TOMM40 GBA ATXN3 PSEN1 ADH1C GBA2 CHMP2B COX1 TREM2 POLG NOTCH3 PLAU TRNF AARS2 PINK1 VPS13C TBP SYNJ1 MAPT ATXN8OS UCHL1 PSEN1 SNCA FUS TYMP SLC13A5 TRNC PLA2G6 MATR3 EPM2A SNCA C19ORF12 PANK2 SNCA CP PPP2R2B CHMP2B HTT TRNK TRNL1 ND1 ND4 PDGFB RRM2B NR4A2 ERCC8 MPO VPS13A LRRK2 SERPINI1 JPH3 PODXL GIGYF2 ITM2B WDR45 PRNP COX3 TRNQ DNMT1 SPAST SDHB ABCD1 C9ORF72 PRNP GBA PSEN2 NPC2 LRRK2 SQSTM1 GBA TRPM7 CYTB SNCA TRNV MAPT RNF216 HTRA1 COX3 COL4A1 CYP27A1 GRN FTL FMR1 TUBA4A TWNK APP ALDH18A1 MMACHC VPS13C MAPT MBTPS2 TMEM106B SQSTM1 ATP13A2 SPG21 ATN1 APTX GBA HEXA ATP6V0A2 PARK7 ALDH18A1 WDR45 DGUOK HTRA2 ARSA NOTCH2NLC TRNS2 ROGDI MAPT KCTD7 WFS1 TREM2 CISD2 TRNQ VPS35 APOE GBA PRNP PSEN2 HTT TBP HFE CLN3 NHLRC1 TRNS1 UBQLN2 GRN CHCHD10 PNPLA6 TRNH VCP SDHD HTRA1 TYROBP ZFYVE26 HNRNPA2B1 NPC1 TREM2 C9ORF72 SLC2A3 PSEN1 MAPT TYROBP TARDBP CP TREM2 PANK2 DNMT1 RNF216 PINK1 MATR3 ATP6V1A PLA2G6 SNCA SDHAF1 MAPT GRN CSF1R TTR XPR1 COX2 TRNF SDHA VCP SNCAIP SORL1 LRRK2 GRN ATXN2 TARDBP SCARB2 TRNW ATP7B APP GM2A PRDM8 TBK1 PDGFRB PRICKLE1 ATP13A2 IRF6 APOE ROGDI POLG PSEN1 ATXN2 CHMP2B PSEN1 APP PRKAR1B VCP ATP13A2 PRNP ITM2B ATP6 NHLRC1 ATP13A2 TBK1 TRNS2 ASAH1 NOS3 APP A2M EPM2A CSTB DNAJC5 COX1 CTSF CERS1 CHMP2B SQSTM1 WFS1 TRNW TUBB4A APP ATN1 PRNP ND5 C9ORF72 JPH3 SPG21 RAB39B PRKN ND6 MAPT ATXN2 DCTN1 ND5 ABCA7 APP SNCB CUBN PRNP PRNP FBXO7 ERCC4 HLA-DQB1 PSEN1 NDP C9ORF72 TREX1 DCTN1 PRDX1 PPP2R2B VCP TMEM106B SNCA CFAP43 PSEN1 VCP TRNE GBA2 APP NOTCH3 TRNS1 COX2 ATP6V1E1 TREM2 TIMM8A FTL VCP CHMP2B MAPT MECP2 ATP6 MAPT TMEM106B EIF4G1 DNM1L ND6 ADA2 ASAH1 GBE1 TRNL1 CST3 ND1 GLUD2 OPA1 DNAJC6
Protein Mutations 1
V158M
SNP 0
HP:0001268: Mental deterioration
Genes 478
PDGFRB HEPACAM DNAJC13 GLB1 HTT CHD2 SYNJ1 CLN6 FMR1 PSAP TOMM40 GBA SLC13A5 COX1 DAOA XPA TREM2 NOTCH3 PLAU ATP1A3 CNKSR2 AARS2 PINK1 SLC1A2 VPS13C TBP MAPT UCHL1 CHD2 PSEN1 TYMP SLC13A5 TRNC MAPT SCN8A EPM2A C19ORF12 SYNJ1 SNCA CP CHMP2B WWOX TRNK TRNL1 ND4 PDGFB TRAK1 APOL2 NR4A2 ERCC8 VPS13A LRRK2 HSD17B10 GIGYF2 WDR45 PRNP TRNQ DNMT1 SDHB TTPA GABRA2 SCO2 NDUFS2 GBA KMT2A PSEN2 PDGFRB SPG11 TLR3 TRPM7 SNCA GCH1 MAPT CACNA1B UBAP1 COX3 GRN FTL FMR1 TUBA4A HGSNAT ERCC2 ALDH18A1 VPS13C MAPT SQSTM1 PLP1 CUX2 FA2H APTX MAPT GBA ALDH18A1 ARSA TBP ROGDI MAPT GALC KCTD7 WFS1 CISD2 TRNQ APOE GBA MFSD8 PRNP PSEN2 JAM2 TBP HFE DCAF17 CLN3 QDPR NHLRC1 EEF1A2 TRNS1 KCNB1 UBQLN2 GNAS CHCHD10 ARSA TRNH SDHD HTRA1 ZFYVE26 HNRNPA2B1 NPC1 CTC1 C9ORF72 SLC2A3 CACNA1A MAPT TARDBP DARS2 CP DNMT1 RNF216 PSAP PLA2G6 SDHAF1 MAPT GABRG2 CLN5 XPR1 SGPL1 MYORG HNF1A SNCAIP LRRK2 PRKCG GRN TRNW ATP7B CLTC PRDM8 SUMF1 ADA2 PDGFRB IRF6 COMT ATXN2 GALC CHMP2B HTR2A NECAP1 SZT2 CLN6 DNMT1 AARS1 UBA5 ATP13A2 TRNS2 DMPK UCP2 NOS3 PSAP RBM28 A2M EPM2A YWHAG CSTB DNAJC5 COX1 CHMP2B WFS1 ATN1 ND5 PRKAR1A PARS2 JPH3 RBM28 TIMM8A RAB39B IDUA ND6 RRM2B MAPT GALC PTS KCNA2 LMNB1 COL18A1 APP ATXN7 PRNP FBXO7 ERCC4 PSEN1 NDP GRN PRDX1 ERCC6 SNCA FA2H NOTCH3 COX2 FGF12 NDUFAF3 TREM2 DHDDS RAB27A TIMM8A FTL GDAP2 PAH CTNS MAPT MECP2 ATP6 TMEM106B SNORD118 EIF4G1 AP5Z1 KCNA2 NBN HCN1 DNM1L ND6 RTN4R ADA2 ASAH1 TRNL1 SYNGAP1 CST3 ND1 OPA1 C9ORF72 HNRNPA2B1 DNM1 GBA DRD3 CTSD CHCHD10 HNRNPA1 TREX1 SCN3A ATXN10 NDUFB8 ATXN3 PSEN1 ADH1C GBA2 CHMP2B CHI3L1 PDGFB ACTL6B POLG CSF1R UBTF TRNF SURF1 ATP6V1A SYNJ1 ATXN8OS SNCA MAPT FUS PLA2G6 RRM2B MATR3 SNCA PANK2 ARSA PPP2R2B KCNC1 HTT PDE10A ND1 NRAS SPG11 RRM2B GALC BSCL2 SCN1A MTHFR MPO HIBCH SERPINI1 CPLX1 JPH3 NTRK2 PODXL ITM2B COX3 SPAST ABCD1 DISC2 C9ORF72 PRNP CLN8 COASY CSTB NPC2 LRRK2 SQSTM1 GBA CYTB NAGLU TRNV PPT1 RNF216 KCNJ11 HTRA1 RNASEH1 COL4A1 CYP27A1 TWNK ABCC8 PLEKHG4 APP AP2M1 MMACHC MBTPS2 TMEM106B ATP13A2 SPG21 ATN1 MFN2 SYN2 HEXA ATP6V0A2 PARK7 WDR45 DGUOK HTRA2 NOTCH2NLC TRNS2 CYFIP2 TBC1D24 TREM2 PRDM8 VPS35 HTT SYNJ1 TRNK AP3B2 GRN APOL4 PNPLA6 STXBP1 VCP TYROBP NUS1 TREM2 PSEN1 TYROBP TBK1 TREM2 PANK2 PINK1 MATR3 ATP6V1A SNCA BSCL2 GRN GRIN2D CSF1R TTR DNM1 COX2 MAPT TRNF SDHA VCP SORL1 ATXN2 TARDBP SCARB2 SLC6A1 APP GM2A TBK1 PRICKLE1 ATP13A2 APOE ROGDI POLG TK2 PSEN1 NDUFA6 PSEN1 APP PRKAR1B VCP ATP13A2 PRNP ITM2B ATP6 NHLRC1 SQSTM1 TINF2 CLN8 TBK1 ARV1 SMC1A ASAH1 ACTB HNF4A GBA APP HEXB CTSF CERS1 SQSTM1 TRNW TUBB4A APP PRNP C9ORF72 C19ORF12 CNTNAP2 SPG21 PRKN TIMMDC1 ATXN2 DCTN1 ND5 ABCA7 PPP3CA SNCB GABRB2 CUBN PRNP HLA-DQB1 SLC20A2 C9ORF72 TREX1 DCTN1 PPP2R2B VCP TMEM106B FA2H CFAP43 PSEN1 VCP TRNE GABRB3 GBA2 APP SCN1A TRNS1 ATXN7 ATP6V1E1 PDE11A SUMF1 PSAP GABRA5 VCP CHMP2B MAPT MAPK10 PLA2G6 MCOLN1 GBE1 ATP1A2 PRNP GLUD2 DNAJC6
Protein Mutations 3
K56M V158M V66M