GLI1 - GLI family zinc finger 1 Gene

Also Known as GLI; PPD1; PAPA8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2735

About GLI1

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,459,785-57,472,268 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues, 14 paralogues and is associated with 98 phenotypes. Broad expression in endometrium (RPKM 5.6), testis (RPKM 2.9) and 15 other tissues.

Summary

This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic Hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

GLI1 Products (5)

mRNA Protein Name
NM_001160045.2 NP_001153517.1 zinc finger protein GLI1 isoform 2
NM_005269.3 NP_005260.1 zinc finger protein GLI1 isoform 1
XM_011538190.3 XP_011536492.1 zinc finger protein GLI1 isoform X2
XM_011538189.3 XP_011536491.1 zinc finger protein GLI1 isoform X1
NM_001167609.2 NP_001161081.1 zinc finger protein GLI1 isoform 3
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
9118802 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
18298960 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
19706761 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10564661 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
19706761 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
17035233 GOA
Biological Process GO Annotation Evidence References Source
involved in epidermal cell differentiation IDA
IDA: Inferred from direct assay
12165851 GOA
involved in negative regulation of canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
17035233 GOA
involved in osteoblast differentiation IDA
IDA: Inferred from direct assay
12165851 GOA
involved in positive regulation of DNA replication IDA
IDA: Inferred from direct assay
12165851 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11238441 GOA
involved in positive regulation of cardiac muscle cell proliferation IDA
IDA: Inferred from direct assay
28583401 GOA
involved in positive regulation of cell cycle G1/S phase transition IDA
IDA: Inferred from direct assay
28583401 GOA
involved in positive regulation of cell migration IDA
IDA: Inferred from direct assay
19706761 GOA
involved in positive regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
12165851 GOA
involved in positive regulation of smoothened signaling pathway IDA
IDA: Inferred from direct assay
17035233 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9118802 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12165851 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
24311597 GOA
involved in smoothened signaling pathway IDA
IDA: Inferred from direct assay
19878745 GOA
Cellular Component GO Annotation Evidence References Source
part of GLI-SUFU complex IPI
IPI: Inferred from physical interaction
24311597 GOA
is active in cytoplasm IDA
IDA: Inferred from direct assay
24076122 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
10504446 GOA
located in cytosol IDA
IDA: Inferred from direct assay
18559511 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10806483 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLI1 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (288 - 313)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (317 - 344)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (362 - 387)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1106 a.a.
Protein Preferred Names Protein Names

zinc finger protein GLI1

  • GLI-Kruppel family member GLI1

  • glioma-associated oncogene 1

  • glioma-associated oncogene homolog 1 (zinc finger protein)

  • oncogene GLI

GLI1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GLI1 P08151 PRKAA2 Homo sapiens P54646 25416956
Intra
GLI1 P08151 ITCH Homo sapiens Q96J02 20818436
Intra
GLI1 P08151 RPS6KB1 Homo sapiens P23443 22439934
Intra
GLI1 P08151 VHL Homo sapiens P40337-3 23395608
Cross
GLI1 P08151 Zic1 Mus musculus P46684 11238441
Cross
GLI1 P08151 Zic1 Mus musculus P46684 11238441
Intra
GLI1 P08151 VHL Homo sapiens P40337-1 23395608
Cross
GLI1 P08151 Numb Mus musculus Q9QZS3-2 20818436
Cross
GLI1 P08151 Numb Mus musculus Q9QZS3-2 20818436
Intra
GLI1 P08151 TRIM42 Homo sapiens Q8IWZ5 25416956
Intra
GLI1 P08151 TRIM42 Homo sapiens Q8IWZ5 25416956
Intra
GLI1 P08151 PIN1 Homo sapiens Q13526 32296183
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1 20211142
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1 24311597
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1 32296183
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1
MST
24311597
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1
TAP
25609649
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1
TSA
24311597
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1 24311597
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1
PLA
25241761
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1 22439934
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1 24217340
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1 24311597
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1-1 10564661
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1-2 10564661
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1-2 10564661
Intra
GLI1 P08151 SUFU Homo sapiens Q9UMX1-2
IF
10564661
Intra
GLI1 P08151 CATSPER1 Homo sapiens Q8NEC5 32296183
Intra
GLI1 P08151 AQP1 Homo sapiens P29972 32296183
Intra
GLI1 P08151 AQP1 Homo sapiens P29972 32296183
Intra
GLI1 P08151 GCC1 Homo sapiens Q96CN9 25416956
Intra
GLI1 P08151 GCC1 Homo sapiens Q96CN9 25416956
Intra
GLI1 P08151 GCC1 Homo sapiens Q96CN9 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

GLI1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83731 Gli1 Antibody WB, IHC-P, IHC-F, ICC/IF, FC Human, Mouse, Rat
HY-P84001 Gli1 Antibody (YA3698) IHC-P, ICC/IF, FC, ELISA Human
HY-P84001A Gli1 Antibody (YA3698)(PBS only) IHC-P, ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
Skin Carcinoma
  • Skin Cancer

  • Carcinoma Of Skin

  • Ca - Skin Cancer

  • Cancer Of Skin

  • Malignant Neoplasm Of Skin

  • Melanoma And Non-Melanoma Skin Cancer

  • Skin Cancers

  • Cancer, Skin

Cerebellar Medulloblastoma
Ameloblastoma
  • Adenoameloblastoma

Sarcoma
  • Connective And Soft Tissue Neoplasm

  • Tumor Of Soft Tissue And Skeleton

  • Sarcomas

  • Sarcoma - Category

Basosquamous Carcinoma
  • Carcinoma, Basosquamous

  • Basisquamous Cell Carcinoma

  • Basosquamous Cell Carcinoma

  • Metatypical Carcinoma

Glioma
Rhabdomyosarcoma
Cerebellum Cancer
  • Cerebellar Neoplasms

  • Cerebellar Cancer

  • Malignant Tumor Of Cerebellum

  • Malignant Neoplasm Of Cerebellum

Fibroepithelial Basal Cell Carcinoma
  • Fibroepithelioma Of Pinkus

  • Fibroepithelioma Of Pinkus Type

  • Pinkus Tumor

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Polydactyly, Postaxial, Type A8
  • PAPA8

  • Polydactyly, Postaxial, A8

Acrocapitofemoral Dysplasia
  • ACFD

  • Dysplasia, Acrocapitofemoral

Myelofibrosis
  • Primary Myelofibrosis

  • Agnogenic Myeloid Metaplasia

  • Idiopathic Myelofibrosis

  • Myeloid Metaplasia

  • Myelofibrosis With Myeloid Metaplasia

  • Osteomyelofibrosis

  • Megakaryocytic Myelosclerosis

  • Myelosclerosis

  • Chronic Idiopathic Myelofibrosis

  • Myelofibrosis, Idiopathic

  • Myelofibrosis With Myeloid Metaplasia, Somatic

  • Myelofibrosis, Somatic

  • Aleukemic Myelosis

  • Bone Marrow Fibrosis

  • MYELOF

  • MMM

  • Agnogenic Myeloid Metaplasia With Myelofibrosis

  • Ammm

  • Myelosclerosis With Myeloid Metaplasia

  • Myelofibrosis Nos

Greig Cephalopolysyndactyly Syndrome
  • GCPS

  • Polysyndactyly With Peculiar Skull Shape

  • Polysyndactyly With Peculiars Skull Shape

  • Greig Syndrome

  • Cephalopolysyndactyly Syndrome

  • Greig Cephalo-Poly-Syndactyly Syndrome

  • Cephalopolysyndactyly, Greig Syndrome

  • Aarskog Syndrome

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Penis Carcinoma In Situ
  • Carcinoma In Situ Of Penis

  • Bowen'S Disease Of Penis

  • Grade Iii Squamous Intraepithelial Lesion Of Penis

  • Penile Intraepithelial Neoplasia Grade Iii

  • Queyrat'S Erythroplasia

  • Erythroplasia Of Queyrat

  • Pin - [Penile Intraepithelial Neoplasia]

Pallister-Hall Syndrome
  • PHS

  • Hypothalamic Hamartomas

  • Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly

  • Hypothalamic Hamartoblastoma Syndrome

  • Hamartoma Of The Hypothalamus

  • Pallister Hall Syndrome

  • Hall-Pallister Syndrome

  • Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly

  • Hamartoma, Hypothalamic

Polydactyly
  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Leukemia, Myeloid, Acute

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Basal Cell Carcinoma
  • Basal Cell Cancer

  • Basal Cell Neoplasm

  • Basal Cell Carcinoma Of Skin

  • Malignant Basal Cell Tumor

  • Basal Cell Tumor

  • Epithelioma Basal Cell

  • Malignant Basal Cell Neoplasm

  • Rodent Ulcer

  • Carcinoma Basal Cell

  • Neoplasms, Basal Cell

  • Basal Cell Carcinomas

  • Experimental Organism Basal Cell Carcinoma

  • Nodulo-Ulcerative Basal Cell Carcinoma

  • Basalioma

  • Basal Cell Epithelioma Of Skin

  • Bcc - [Basal Cell Carcinoma] Of Skin

  • Rodent Ulcer Of Skin

  • Rodent Ulcer Of Unspecified Site

  • Basal Cell Epithelioma Of Unspecified Site

Gastric Cancer
  • Stomach Cancer

  • Stomach Carcinoma

  • Gastric Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Polydactyly, Preaxial I
  • PPD1

  • Thumb Polydactyly

  • Polydactyly Of A Biphalangeal Thumb

  • Polydactyly, Preaxial

  • Preaxial Polydactyly Type 1

  • Polydactyly Preaxial 1

  • Preaxial Polydactyly 1

  • Polydactyly Preaxial Type 1

  • Polydactyly, Preaxial 1

  • Preaxial Polydactyly

  • Accessory Thumb

  • Supernumerary Thumb

  • Extra Thumb

Chondroma
  • Central Chondroma

  • Enchondroma

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Desmoplastic/Nodular Medulloblastoma

  • Medulloblastoma With Extensive Nodularity

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, Somatic

  • Medulloblastoma, Desmoplastic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Mben

  • Medulloblastoma Desmoplastic

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Granuloma Annulare
  • Granulome Annulare

  • Ga - [Granuloma Annulare]

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Brain Cancer
  • Malignant Neoplasm Of Brain

  • Adult Brain Tumor

  • Brain Neoplasms

  • Brain Neoplasm

  • Neoplasm Of Brain

  • Primary Malignant Neoplasm Of Brain

  • Brain Tumors

  • Adult Malignant Brain Neoplasm

  • Brain Neoplasm, Adult

  • Bt - Brain Tumour

  • Malignant Brain Tumour

  • Malignant Primary Brain Neoplasm

  • Malignant Primary Brain Tumor

  • Malignant Tumor Of Adult Brain

  • Malignant Tumor Of Brain

  • Primary Brain Neoplasm

  • Primary Brain Tumor

  • Tumor Of The Brain

  • Brain Tumor, Adult

  • Brain Tumor Primary

  • Malignant Primary Brain Tumors

  • Primary Brain Tumors

  • Cancer, Brain

  • Brain Tumor, Primary

Acute Promyelocytic Leukemia
  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Brachydactyly, Type A1
  • Brachydactyly Type A1

  • BDA1

  • Farabee-Type Brachydactyly

  • Farabee Type Brachydactyly

  • Brachydactyly Farabee Type

  • Brachydactyly, Farabee Type

  • Brachydactyly A1

  • Brachydactyly

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Syndactyly, Type I

  • Sd1

  • Zygodactyly

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Non-Syndromic Syndactyly

  • Symphalangism

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Infratentorial Cancer
  • Infratentorial Neoplasms

  • Brain Neoplasm, Infratentorial

  • Malignant Infratentorial Tumors

Basal Cell Nevus Syndrome
  • Nevoid Basal Cell Carcinoma Syndrome

  • Gorlin Syndrome

  • Nbccs

  • BCNS

  • Gorlin-Goltz Syndrome

  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

  • Cerebral Gigantism Jaw Cysts

  • Cramer Niederdellmann Syndrome

  • Gorlin Syndrome Or Gorlin-Goltz Syndrome

  • Naevoid Basal Cell Carcinoma Syndrome

Meckel Syndrome, Type 1
  • Meckel Syndrome

  • Meckel-Gruber Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Asphyxiating Thoracic Dystrophy
  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy

Childhood Medulloblastoma
  • Medulloblastoma, Childhood

  • Pediatric Medulloblastoma

  • Medulloblastoma Childhood

Muscle Cancer
  • Myosarcoma

  • Malignant Neoplasm Of Muscle

  • Malignant Tumor Of Muscle

  • Malignant Tumor Of The Muscle

  • Muscle Neoplasms

  • Myomatous Neoplasm

Polydactyly, Postaxial, Type A1
  • Postaxial Polydactyly Type A

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • PAPA1

  • Postaxial Polydactyly, Type A

  • Papa

  • Polydactyly, Postaxial, Types A1 And B

  • Postaxial Polydactyly Type B

  • Polydactyly Postaxial

  • Polydactyly, Postaxial A1

  • Polydactyly, Postaxial B

  • PAPB

  • Postaxial Polydactyly, Type A1/B

  • Polydactyly, Postaxial, Type A

  • Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

  • Postaxial Polydactyly, Type B

Pericytoma With T(7;12)
Focal Dermal Hypoplasia
  • Goltz Syndrome

  • Goltz-Gorlin Syndrome

  • FDH

  • FODH

  • Dhof

  • Goltz Gorlin Syndrome

  • Hypoplasia, Dermal, Focal

Anus, Imperforate
  • Imperforate Anus

  • Anal Atresia

  • Anorectal Malformations

  • Anorectal Malformation

  • Congenital Atresia Of Anus

  • Congenital Or Infantile Occlusion Of Anus

  • Anal Stenosis

  • Arm

Ellis-Van Creveld Syndrome
  • Chondroectodermal Dysplasia

  • Mesoectodermal Dysplasia

  • EVC

  • Ellis Van Creveld Syndrome

  • Mesodermic Dysplasia

  • Ellis-Van Creveld Dysplasia

Skeletal Muscle Cancer
  • Malignant Tumor Of Skeletal Muscle

  • Skeletal Muscle Neoplasm

Necrobiosis Lipoidica
  • Oppenheim-Urbach Disease

  • Necrobiosis Lipoidica Diabeticorum

Apert Syndrome
  • Acrocephalosyndactyly Type I

  • Acs1

  • Acrocephalosyndactylia

  • Acs I

  • Apert-Crouzon Disease

  • Acrocephalosyndactyly

  • Acrocephalosyndactyly Type 1

  • Acrocephalosyndactyly, Type I

  • Acs 1

  • Acrocephalo-Syndactyly Type 1

  • Syndactylic Oxycephaly

  • Apert'S Syndrome

  • Type I Acrocephalosyndactyly

  • APRS

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Carcinoma Of Pancreas

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Cancer Of The Pancreas

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Brachydactyly
Burkitt Lymphoma
  • Burkitt'S Lymphoma

  • BL

  • Burkitt Lymphoma, Somatic

  • Burkitt Lymphoma/Leukaemia

  • Burkitt'S Tumor

  • Burkitt'S Tumor Or Lymphoma

  • Malignant Lymphoma, Burkitt'S Type

  • Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

  • Small Non-Cleaved Cell Lymphoma

  • Burkitt Tumor

  • Burkitts Lymphoma

  • Lymphoma, Small Noncleaved-Cell

  • Burkitt Tumour

  • Diffuse Small Noncleaved Malignant Burkitt Lymphoma

  • Malignant Burkitt Lymphoma

  • “Burkitt-Like” Lymphoma

  • Undifferentiated Burkitt Lymphoma

  • Small Noncleaved Cell Burkitt Lymphoma

Glioblastoma
  • Glioblastoma Multiforme

  • Gbm

  • Adult Glioblastoma Multiforme

  • Grade Iv Adult Astrocytic Tumor

  • Primary Glioblastoma Multiforme

  • Spongioblastoma Multiforme

  • Adult Glioblastoma

  • Primary Glioblastoma

Nodular Medulloblastoma
  • Medulloblastoma, With Extensive Nodularity

Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Orofacial Cleft
  • Cleft, Orofacial

Holoprosencephaly
  • Holoprosencephaly Sequence

  • Hpe

  • Hpe - [Holoprosencephaly]

Acrocallosal Syndrome
  • ACLS

  • Schinzel Acrocallosal Syndrome

  • Joubert Syndrome 12

  • Schinzel Syndrome 1

  • Acrocallosal Syndrome, Schinzel Type

  • Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum

  • Acs

  • Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly

  • Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum

  • JBTS12

  • Acrocallosal Syndrome

Vacterl Association
  • Vater Association

  • Vater Syndrome

Joubert Syndrome 32
  • JBTS32

Trachea Leiomyoma
  • Tracheal Neoplasms

  • Leiomyoma Of The Trachea

  • Tracheal Neoplasm

  • Tracheal Leiomyoma

Skin Benign Neoplasm
  • Neoplasm Of Skin By Site

  • Tumor Of The Skin

  • Skin Tumor

  • Benign Neoplasm Of Skin

  • Skin Neoplasms

Skin Disease
  • Skin Diseases

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Genodermatosis

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris GLI1 VGNC VGNC:41256
Felis catus GLI1 VGNC VGNC:62578
Macaca mulatta GLI1 VGNC VGNC:73069
Rattus norvegicus GLI1 RGD RGD:621673
Bos taurus GLI1 VGNC VGNC:29399
Mus musculus GLI1 MGD MGI:95727
Others GLI1 NCBI