DisGeNET - a database of gene-disease associations

Source: CURATED

Variant: rs1555955296 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C1842364
Disease:	Central hypotonia

Central hypotonia

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C1836829
Disease:	Developmental stagnation at onset of seizures

Developmental stagnation at onset of seizures

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C0270846
Disease:	Epileptic drop attack

Epileptic drop attack

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C1861324
Disease:	Short philtrum

Short philtrum

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C1836830
Disease:	Developmental regression

Developmental regression

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C4750718
Disease:	Cyclin-dependent kinase-like 5 deficiency

Cyclin-dependent kinase-like 5 deficiency

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C3887898
Disease:	Infantile Spasm

Infantile Spasm

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C1839767
Disease:	Tented upper lip vermilion

Tented upper lip vermilion

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C0267071
Disease:	Oropharyngeal Dysphagia

Oropharyngeal Dysphagia

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C0752323
Disease:	Focal Clonic Seizures

Focal Clonic Seizures

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C0042580
Disease:	Vesico-Ureteral Reflux

Vesico-Ureteral Reflux

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C0752324
Disease:	Focal Tonic Seizures

Focal Tonic Seizures

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C4551570
Disease:	2-3 toe syndactyly

2-3 toe syndactyly

0.700

dbSNP:

rs1555955296

rs1555955296

CDKL5

0.742

0.320

X

18628716

stop gained

C/T

snv

CUI:	C4022919
Disease:	Appendicular hypotonia

Appendicular hypotonia

0.700