DisGeNET - a database of gene-disease associations

Source: ALL

Gene: POP1 ×

Results per page

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C4479357
Disease:	ANAUXETIC DYSPLASIA 2

ANAUXETIC DYSPLASIA 2

disease

0.610

strong

1.000

2011

2019

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1846796
Disease:	Anauxetic dysplasia

Anauxetic dysplasia

disease

0.530

None

1.000

2011

2017

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

disease

0.300

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0013336
Disease:	Dwarfism

Dwarfism

disease

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0541764
Disease:	Delayed bone age

Delayed bone age

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1834124
Disease:	Shield chest

Shield chest

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1836184
Disease:	Short femoral neck

Short femoral neck

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1849034
Disease:	Hypoplastic iliac body

Hypoplastic iliac body

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1853242
Disease:	Midface retrusion

Midface retrusion

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1855665
Disease:	Ovoid vertebral bodies

Ovoid vertebral bodies

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1856920
Disease:	Hypoplasia of the femoral head

Hypoplasia of the femoral head

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1859335
Disease:	Thoracolumbar kyphoscoliosis

Thoracolumbar kyphoscoliosis

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C2919142
Disease:	Short Stature, CTCAE

Short Stature, CTCAE

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0333068
Disease:	Flexion contracture

Flexion contracture

disease

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0024003
Disease:	Lordosis

Lordosis

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0158465
Disease:	Acquired cubitus valgus

Acquired cubitus valgus

disease

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0221357
Disease:	Brachydactyly

Brachydactyly

disease

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0265294
Disease:	Pyle metaphyseal dysplasia

Pyle metaphyseal dysplasia

disease

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0239138
Disease:	Hip joint varus deformity - observation

Hip joint varus deformity - observation

phenotype

0.100

None

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0029422
Disease:	Osteochondrodysplasias

Osteochondrodysplasias

group

0.020

None

1.000

2011

2017

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0410528
Disease:	Skeletal dysplasia

Skeletal dysplasia

disease

0.020

None

1.000

2011

2017

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1611743
Disease:	Familial (FPAH)

Familial (FPAH)

disease

0.010

None

1.000

2016

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C1306459
Disease:	Primary malignant neoplasm

Primary malignant neoplasm

group

0.010

None

1.000

2019

Entrez Id:	10940
Gene Symbol:	POP1

POP1

POP1 homolog, ribonuclease P/MRP subunit

0.743

0.346

2.8E-13

CUI:	C0220748
Disease:	Cartilage-hair hypoplasia

Cartilage-hair hypoplasia

disease

0.010

None

1.000

2017