DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs1555452127 ×

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:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0549629
Disease:	Abnormal delivery

Abnormal delivery

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C4551563
Disease:	Microcephaly (physical finding)

Microcephaly (physical finding)

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0426886
Disease:	Tapering fingers (finding)

Tapering fingers (finding)

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C4024736
Disease:	Abnormally lax or hyperextensible skin

Abnormally lax or hyperextensible skin

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0005697
Disease:	Neurogenic Urinary Bladder

Neurogenic Urinary Bladder

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0015300
Disease:	Exophthalmos

Exophthalmos

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C2267233
Disease:	Neonatal Hypotonia

Neonatal Hypotonia

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C1860834
Disease:	Infantile muscular hypotonia

Infantile muscular hypotonia

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C1963101
Disease:	Encephalopathy, CTCAE 3.0

Encephalopathy, CTCAE 3.0

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C2677180
Disease:	Congenital microcephaly

Congenital microcephaly

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C4023370
Disease:	Moderate intrauterine growth retardation

Moderate intrauterine growth retardation

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0973461
Disease:	Dysphasia

Dysphasia

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0751495
Disease:	Seizures, Focal

Seizures, Focal

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0036439
Disease:	Scoliosis, unspecified

Scoliosis, unspecified

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C4281993
Disease:	Neonatal respiratory distress

Neonatal respiratory distress

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0342546
Disease:	Premature adrenarche

Premature adrenarche

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0494475
Disease:	Tonic - clonic seizures

Tonic - clonic seizures

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0039231
Disease:	Tachycardia

Tachycardia

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C0262655
Disease:	Recurrent urinary tract infection

Recurrent urinary tract infection

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C1386048
Disease:	Intrauterine retardation

Intrauterine retardation

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C1820737
Disease:	Temperature instability

Temperature instability

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C1837397
Disease:	Severe global developmental delay

Severe global developmental delay

0.700

dbSNP:

rs1555452127

ALG1

0.742

0.400

5079078

missense variant

T/C

snv

CUI:	C1855650
Disease:	Birth length less than 3rd percentile

Birth length less than 3rd percentile

0.700