DisGeNET - a database of gene-disease associations

IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917852

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.810

GeneticVariation

BEFREE

p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.

30651074

2019

dbSNP:

rs121917852

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.810

GeneticVariation

UNIPROT

In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).

21537345

2011

dbSNP:

rs121917852

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.810

GeneticVariation

UNIPROT

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

12384778

2002

dbSNP:

rs121917852

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.810

GeneticVariation

UNIPROT

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

11455389

2001

dbSNP:

rs121917852

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.810

CausalMutation

CLINVAR

dbSNP:

rs121917853

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).

21537345

2011

dbSNP:

rs121917854

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).

21537345

2011

dbSNP:

rs121917855

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.

21537345

2011

dbSNP:

rs121917856

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1843096
Disease:

Acrocapitofemoral Dysplasia

0.800

GeneticVariation

UNIPROT

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

12632327

2003

dbSNP:

rs121917857

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C1843096
Disease:

Acrocapitofemoral Dysplasia

0.800

GeneticVariation

UNIPROT

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

12632327

2003

dbSNP:

rs121917853

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

12384778

2002

dbSNP:

rs121917854

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

12384778

2002

dbSNP:

rs121917855

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

12384778

2002

dbSNP:

rs121917853

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

11455389

2001

dbSNP:

rs121917854

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

11455389

2001

dbSNP:

rs121917855

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

11455389

2001

dbSNP:

rs121917853

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs121917854

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs121917855

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs121917856

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1843096
Disease:

Acrocapitofemoral Dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs121917857

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C1843096
Disease:

Acrocapitofemoral Dysplasia

0.800

CausalMutation

CLINVAR

dbSNP:

rs200216644

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs76709099

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs121917859

Entrez Id:	3549;100422957
Gene Symbol:	IHH;MIR3131

IHH;MIR3131

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs121917861

Entrez Id:	3549
Gene Symbol:	IHH

IHH

CUI:	C1862151
Disease:

BRACHYDACTYLY, TYPE A1 (disorder)

0.700

CausalMutation

CLINVAR