DisGeNET - a database of gene-disease associations

Profound intellectual disabilities, C3161330

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	340533
Gene Symbol:	NEXMIF

NEXMIF

0.010

GeneticVariation

disease

BEFREE

We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction.

29693785

2018

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

0.100

CausalMutation

disease

CLINVAR

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

26486474

2016

Entrez Id:	10059
Gene Symbol:	DNM1L

DNM1L

0.100

CausalMutation

disease

CLINVAR

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

26604000

2016

Entrez Id:	51067
Gene Symbol:	YARS2

YARS2

0.100

CausalMutation

disease

CLINVAR

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

27145208

2016

Entrez Id:	10059
Gene Symbol:	DNM1L

DNM1L

0.100

CausalMutation

disease

CLINVAR

A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

27145208

2016

Entrez Id:	51067
Gene Symbol:	YARS2

YARS2

0.100

CausalMutation

disease

CLINVAR

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

26604000

2016

Entrez Id:	1741
Gene Symbol:	DLG3

DLG3

0.100

Biomarker

disease

HPO

Entrez Id:	24140
Gene Symbol:	FTSJ1

FTSJ1

0.100

Biomarker

disease

HPO

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

0.100

Biomarker

disease

HPO

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

0.100

Biomarker

disease

HPO

Entrez Id:	10479
Gene Symbol:	SLC9A6

SLC9A6

0.100

Biomarker

disease

HPO

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

0.100

Biomarker

disease

HPO

Entrez Id:	7102
Gene Symbol:	TSPAN7

TSPAN7

0.100

Biomarker

disease

HPO

Entrez Id:	523
Gene Symbol:	ATP6V1A

ATP6V1A

0.100

Biomarker

disease

HPO

Entrez Id:	64220
Gene Symbol:	STRA6

STRA6

0.100

Biomarker

disease

HPO

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

0.100

Biomarker

disease

HPO

Entrez Id:	6785
Gene Symbol:	ELOVL4

ELOVL4

0.100

Biomarker

disease

HPO

Entrez Id:	55704
Gene Symbol:	CCDC88A

CCDC88A

0.100

Biomarker

disease

HPO

Entrez Id:	7965
Gene Symbol:	AIMP2

AIMP2

0.100

Biomarker

disease

HPO

Entrez Id:	5631
Gene Symbol:	PRPS1

PRPS1

0.100

Biomarker

disease

HPO

Entrez Id:	51807
Gene Symbol:	TUBA8

TUBA8

0.100

Biomarker

disease

HPO

Entrez Id:	60558
Gene Symbol:	GUF1

GUF1

0.100

Biomarker

disease

HPO

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

0.100

Biomarker

disease

HPO

Entrez Id:	84679
Gene Symbol:	SLC9A7

SLC9A7

0.100

Biomarker

disease

HPO

Entrez Id:	56270
Gene Symbol:	WDR45B

WDR45B

0.100

Biomarker

disease

HPO