Cognitive impairment (Phenotype)

Phenotype:

SU002635

Synonyms:HP:0002128, HP:0002129, HP:0002302, HP:0002337, HP:0002441, HP:0006972, HP:0006998, HP:0007211, Abnormality of cognition, Cognitive abnormality, Cognitive defects, Cognitive deficits, Cognitive impairment, Intellectual impairment

Id:HP:0100543

Description:Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.

Results found

Linked to

	Label	Description
	CMTR1 Gene (Entity type)	ENSG00000137200 - cap methyltransferase 1
	EIF4EBP1 Gene (Entity type)	ENSG00000187840 - eukaryotic translation initiation factor 4E binding protein 1
	BTG1 Gene (Entity type)	ENSG00000133639 - BTG anti-proliferation factor 1
	CTNS Gene (Entity type)	ENSG00000040531 - cystinosin, lysosomal cystine transporter
	HLA-DQB1 Gene (Entity type)	ENSG00000231939 - major histocompatibility complex, class II, DQ beta 1 [Source:HGNC Symbol;Acc:HGNC:4944]
	CPT1C Gene (Entity type)	ENSG00000169169 - carnitine palmitoyltransferase 1C
	TPRKB Gene (Entity type)	ENSG00000144034 - TP53RK binding protein
	EBAG9 Gene (Entity type)	ENSG00000147654 - estrogen receptor binding site associated antigen 9
	MT-CO1 Gene (Entity type)	ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]
	AFG3L2 Gene (Entity type)	ENSG00000141385 - AFG3 like matrix AAA peptidase subunit 2

CMTR1

Gene (Entity type)

ENSG00000137200 - cap methyltransferase 1

EIF4EBP1

Gene (Entity type)

ENSG00000187840 - eukaryotic translation initiation factor 4E binding protein 1

BTG1

Gene (Entity type)

ENSG00000133639 - BTG anti-proliferation factor 1

CTNS

Gene (Entity type)

ENSG00000040531 - cystinosin, lysosomal cystine transporter

HLA-DQB1

Gene (Entity type)

ENSG00000231939 - major histocompatibility complex, class II, DQ beta 1 [Source:HGNC Symbol;Acc:HGNC:4944]

CPT1C

Gene (Entity type)

ENSG00000169169 - carnitine palmitoyltransferase 1C

TPRKB

Gene (Entity type)

ENSG00000144034 - TP53RK binding protein

EBAG9

Gene (Entity type)

ENSG00000147654 - estrogen receptor binding site associated antigen 9

MT-CO1

Gene (Entity type)

ENSG00000198804 - mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:HGNC:7419]

AFG3L2

Gene (Entity type)

ENSG00000141385 - AFG3 like matrix AAA peptidase subunit 2

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.