Phenotype: Tactile sensory seeking (HP:5200065)
Associated genes and diseases:
gene_symbol: PSEN1
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PSEN1
disease_id: OMIM:172700
disease_name: PICK DISEASE OF BRAIN
gene_symbol: MAPT
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: MAPT
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: OMIM:172700
disease_name: PICK DISEASE OF BRAIN
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: CHMP2B
disease_id: OMIM:600795
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: OMIM:607485
disease_name: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PRNP
disease_id: OMIM:606688
disease_name: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
gene_symbol: SNRPN
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: GUCY2D
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPE65
disease_id: OMIM:204100
disease_name: LEBER CONGENITAL AMAUROSIS 2
gene_symbol: RPE65
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: KCNJ13
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RD3
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RDH12
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRX
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: NMNAT1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: RPGRIP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: CEP290
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TUBB4B
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IFT140
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: USP45
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
gene_symbol: PCYT1A
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IQCB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: GDF6
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: AIPL1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LRAT
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: SPATA7
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TULP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TULP1
disease_id: OMIM:613843
disease_name: LEBER CONGENITAL AMAUROSIS 15
gene_symbol: LCA5
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IMPDH1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: MYT1L
disease_id: ORPHA:647799
disease_name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
MYT1L-associated neurodevelopmental disorder
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome