1. Gene
  2. PTCH1 - patched 1 Gene

PTCH1 - patched 1 Gene

Homo sapiens

Also known as PTC; BCNS; PTC1; PTCH; NBCCS

Gene ID: 5727 | Gene type: protein coding

About PTCH1

Cytogenetic location: 9q22.32 Genomic coordinates (GRCh38): 9:95,442,980-95,516,971 (from NCBI)

This gene has 28 transcripts (splice variants), 217 orthologues, 10 paralogues and is associated with 152 phenotypes. Broad expression in endometrium (RPKM 11.5), testis (RPKM 8.7) and 24 other tissues.

Summary

This gene encodes a member of the patched family of proteins and a component of the Hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted Hedgehog ligands, which include sonic Hedgehog, indian Hedgehog and desert Hedgehog. Following binding by one of the Hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

PTCH1 Products(9)

mRNA Protein Name
NM_000264.5 NP_000255.2 protein patched homolog 1 isoform L
NM_001083602.3 NP_001077071.1 protein patched homolog 1 isoform M
NM_001083603.3 NP_001077072.1 protein patched homolog 1 isoform L'
NM_001083604.3 NP_001077073.1 protein patched homolog 1 isoform S
NM_001083605.3 NP_001077074.1 protein patched homolog 1 isoform S
NM_001083606.3 NP_001077075.1 protein patched homolog 1 isoform S
NM_001083607.3 NP_001077076.1 protein patched homolog 1 isoform S
NM_001354918.2 NP_001341847.1 protein patched homolog 1 isoform 8
NM_001354919.2 NP_001341848.1 protein patched homolog 1 isoform 9

PTCH1 Protein Structure

Sterol-sensing

Sterol-sensing: Sterol-sensing domain of SREBP cleavage-activation (462 - 615)

Patched

Patched: Patched family (978 - 1178)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1447 a.a.
Protein Preferred Names Protein Names

protein patched homolog 1

Related Diseases

Diseases Alias
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

Holoprosencephaly 7

HPE7

Holoprosencephaly-7

Holoprosencephaly, Type 7

Basal Cell Carcinoma 1

Basal Cell Carcinoma, Susceptibility To, 1

Basal Cell Carcinoma

BCC1

BCC

Multiple Basal Cell Carcinoma

Non-Syndromic Basal Cell Carcinoma

Carcinoma, Basal Cell, Susceptibility To, Type 1

Experimental Organism Basal Cell Carcinoma

Basal Cell Carcinoma, Multiple

Lobar Holoprosencephaly
Overgrowth Syndrome

Overgrowth

Congenital Malformation Syndromes Involving Early Overgrowth

Precocious Puberty

Familial Precocious Puberty

Idiopathic Sexual Precocity

Sexual Precocity

Puberty Precocious

Cryptogenic Sexual Precocity

Basal Cell Carcinoma, Multiple

Multiple Basal Cell Carcinoma

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

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

Microform Holoprosencephaly

Hpe, Minor Form

Hpe-L

Holoprosencephaly, Minor Form

Holoprosencephaly-Like

Microform Hpe

Midline Interhemispheric Variant Of Holoprosencephaly

Mih

Mih Type Hpe

Mihf

Mihv

Middle Interhemispheric Fusion Variant

Middle Interhemispheric Variant Of Holoprosencephaly

Syntelencephaly

Septopreoptic Holoprosencephaly

Septopreoptic Hpe

Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Schilbach-Rott Syndrome

Ocular Hypotelorism, Submucosal Cleft Palate, And Hypospadias

Blepharofacioskeletal Syndrome

Brss

SBRS

Cleft Palate, Hypotelorism, And Hypospadias

Hypotelorism Cleft Palate Hypospadias

Hypotelorism-Cleft Palate-Hypospadias Syndrome

Brooke-Spiegler Syndrome

Monosomy 9q22.3

Microdeletion 9q22.3

Ameloblastoma

Adenoameloblastoma

Triphalangeal Thumb With Polysyndactyly

Triphalangeal Thumb-Polysyndactyly Syndrome

Tpt-Ps Syndrome

TPTPS

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

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Fibroma
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

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

Anterior Segment Dysgenesis 5

Anterior Segment Dysgenesis 5, Multiple Subtypes

ASGD5

Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes

Polydactyly, Preaxial Ii

PPD2

Polydactyly Of A Triphalangeal Thumb

Polydactyly, Preaxial Type Ii

Triphalangeal Thumb, Type I

Preaxial Polydactyly Type 2

Triphalangeal Thumb-Polysyndactyly Syndrome

Polydactyly Of Triphalangeal Thumb

Triphalangeal Thumb-Polydactyly Syndrome

Preaxial Polydactyly 2

TPTPS

Polydactyly, Preaxial, Type Ii

Skin Tag

Fibroepithelial Polyp

Fibroepithelial Polyp Of Skin

Soft Fibroma

Skin Tags

Cutaneous Tag

Gardner Fibroma

Acrochordon

Fibroma Molle

Congenital Hydrocephalus

Hydrocephalus

Hydrocephalus Adverse Event

Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Hydrocephalus In Newborn

Congenital Hydrocephaly

Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Rhabdomyosarcoma
Spina Bifida Occulta
Holoprosencephaly, Recurrent Infections, And Monocytosis
Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Testicular Thecoma
Follicular Basal Cell Carcinoma

Follicular Basal Cell Carcinoma

Skin Follicular Basal Cell Carcinoma

Basal Cell Carcinoma - Follicular

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome

Mac

Microphthalmia With Colobomatous Cyst

Microphthalmia-Anophthalmia-Coloboma Syndrome

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia And Mental Deficiency

Multiple Self-Healing Squamous Epithelioma

MSSE

Ess1

Ferguson-Smith Type Epithelioma

Ferguson-Smith Disease

Self-Healing Squamous Epithelioma Type 1

Multiple Self-Healing Squamous Epithelioma, Susceptibility To

Ferguson-Smith-Type Epithelioma

Ess1, Formerly

Multiple Self Healing Squamous Epithelioma

Familial Primary Self-Healing Squamous Epithelioma Of The Skin, Ferguson-Smith Type

Multiple Keratoacanthoma, Ferguson-Smith Type

Epithelioma, Squamous, Multiple Self Healing

Skin Benign Neoplasm

Neoplasm Of Skin By Site

Tumor Of The Skin

Skin Tumor

Benign Neoplasm Of Skin

Skin Neoplasms

Heart Tumor

Intracavitary Tumors

Myocardial Tumors

Primary Cardiac Tumors, Childhood

Heart Neoplasm

Intracavitary Tumors Of The Heart

Neoplasm Of Myocardium

Fibroepithelial Basal Cell Carcinoma

Fibroepithelioma Of Pinkus

Fibroepithelioma Of Pinkus Type

Pinkus Tumor

Cerebellar Medulloblastoma
Focal Dermal Hypoplasia

Goltz Syndrome

Goltz-Gorlin Syndrome

FDH

FODH

Dhof

Goltz Gorlin Syndrome

Hypoplasia, Dermal, Focal

Basosquamous Carcinoma

Carcinoma, Basosquamous

Basisquamous Cell Carcinoma

Basosquamous Cell Carcinoma

Metatypical Carcinoma

Brachydactyly
Infratentorial Cancer

Infratentorial Neoplasms

Brain Neoplasm, Infratentorial

Malignant Infratentorial Tumors

Alstrom Syndrome

ALMS

Alström Syndrome

Alss

Alstrom-Hallgren Syndrome

Alstroem Syndrome

Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Desmoplastic Nodular Medulloblastoma

Medulloblastoma With Extensive Nodularity

Nodular Medulloblastoma

Desmoplastic/Nodular Medulloblastoma

Mben

Medulloblastoma, With Extensive Nodularity

Cerebellum Cancer

Cerebellar Neoplasms

Cerebellar Cancer

Malignant Tumor Of Cerebellum

Malignant Neoplasm Of Cerebellum

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

Benign Teratoma

Dermoid Cyst

Cystic Dermoid Choristoma

Dermoid Choristoma

Mature Cystic Teratoma

Dermoid Tumour

Teratoma, Benign

Dermoid Cyst Of Ovary

Adult Medulloblastoma

Adult Brain Medulloblastoma

Medulloblastoma, Adult

Basal Cell Carcinoma, Infundibulocystic

Basal Cell Carcinoma With Follicular Differentiation

Infundibulocystic Basal Cell Carcinoma

Skin Infundibulocystic Basal Cell Carcinoma

Internal Auditory Canal Lipoma

Lipoma Of The Internal Auditory Canal

Inner Ear Lipoma

Hashimoto Thyroiditis

Autoimmune Thyroiditis

Hashimoto Struma

Hashimoto'S Thyroiditis

Chronic Lymphocytic Thyroiditis

Lymphocytic Thyroiditis

Hashimoto Disease

Ht

Hashimoto'S Disease

Hashimoto'S Syndrome

Hypothyroidism, Autoimmune

Autoimmune Chronic Lymphocytic Thyroiditis

Chronic Lymphocytic Thyroiditides

Hashimoto Syndrome

Hashimotos Thyroiditis

Hashimoto Thyroiditis, Susceptibility To

Thyroiditis, Autoimmune

Lymphomatous Thyroiditis

Lymphoid Thyroiditis

Chronic Lymphadenoid Thyroiditis

Autoimmune Lymphocytic Chronic Thyroiditis

Goitre Lymphomatosa

Hashitoxicosis

Hashimoto Hypothyroidism

Lymphadenoid Goitre

Struma Lymphomatosa

Hyperthyroidism With Hashimoto Disease

Hashimoto Thyrotoxicosis

Thyrotoxicosis Due To Hashimoto Thyroiditis

Struma Lymphomatosis

Lymphadenoid Struma

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Brachydactyly, Type A1

Brachydactyly Type A1

BDA1

Farabee-Type Brachydactyly

Farabee Type Brachydactyly

Brachydactyly Farabee Type

Brachydactyly, Farabee Type

Brachydactyly A1

Brachydactyly

Brain Cancer

Adult Brain Tumor

Malignant Neoplasm Of Brain

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

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

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Cleft Lip

Cheiloschisis

Labium Leporinum

Cleft Lip, Unilateral, Complete

Complete Unilateral Cleft Lip

Hare Lip

Congenital Fissure Of Lip

Isolated Cleft Lip

Cleft Lip Without Cleft Palate

Cleft Lip Without Cleft Palate, Unilateral

Isolated Cleft Lip, Unilateral

Cleft Lip Without Cleft Palate, Bilateral

Isolated Cleft Lip, Bilateral

Pericytoma With T(7;12)
Acrocapitofemoral Dysplasia

ACFD

Dysplasia, Acrocapitofemoral

Thyroid Gland Cancer

Thyroid Gland Carcinoma

Malignant Neoplasm Of Thyroid Gland

Malignant Tumour Of Thyroid Gland

Thyroid Neoplasm

Thyroid Neoplasms

Neoplasm Of Thyroid Gland

Thyroid Gland Neoplasm

Head And Neck Cancer, Thyroid

Neoplasm Of The Thyroid Gland

Cancer Of The Thyroid

Primary Malignant Neoplasm Of Thyroglossal Duct

Malignant Neoplasm Of Thyroglossal Duct

Primary Malignant Neoplasm Of Thyroid Gland

Thyroglossal Duct Cancer

Toxic Goitre Malignant Tumour

Cancerous Goitre

Infiltrative Basal Cell Carcinoma

Skin Infiltrating Basal Cell Carcinoma

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

Solitary Median Maxillary Central Incisor

SMMCI

Fused Incisors

Single Upper Central Incisor

Single Central Maxillary Incisor

Single Median Maxillary Central Incisor

Solitary Median Maxillary Central Incisor Syndrome

Incisors Fused

Incisors, Fused

Megalencephaly

Macroencephaly

Macrencephaly

Holoprosencephaly 6

HPE6

Childhood Medulloblastoma

Medulloblastoma, Childhood

Pediatric Medulloblastoma

Medulloblastoma Childhood

Tinea Capitis

Dermatophytosis Of Scalp

Scalp Ringworm

Dermatophytosis Of Scalp Or Beard

Tinea Capitis Due To Trichophyton Rubrum

Trichophyton Rubrum Tinea Capitis

Holoprosencephaly 11

HPE11

Holoprosencephaly-11

Holoprosencephaly, Type 11

Micronodular Basal Cell Carcinoma

Skin Micronodular Basal Cell Carcinoma

Basal Cell Carcinoma, Micronodular

Holoprosencephaly 3

HPE3

Hlp3

Holoprosencephaly-3

Holoprosencephaly, Type 3

Vulva Basal Cell Carcinoma

Basal Cell Carcinoma Of Vulva

Basal Cell Carcinoma Of The Vulva

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Large Cell Medulloblastoma
Cystic Basal Cell Carcinoma

Skin Cystic Basal Cell Carcinoma

Pigmented Basal Cell Carcinoma

Skin Pigmented Basal Cell Carcinoma

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer 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

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

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Clear Cell Basal Cell Carcinoma

Skin Clear Cell Basal Cell Carcinoma

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Polycystic Liver Disease 1 With Or Without Kidney Cysts

Polycystic Liver Disease 1

PCLD1

Cyst

Liver Disease, Polycystic, Type 1

Polycystic Liver Disease

Anterior Cranial Fossa Meningioma

Meningioma Of The Anterior Fossa

Multiple Endocrine Neoplasia, Type Iib

Multiple Endocrine Neoplasia Type 2b

MEN2B

Wagenmann-Froboese Syndrome

Multiple Endocrine Neoplasia Iib

Mucosal Neuroma Syndrome

Multiple Endocrine Neoplasia, Type 3

Multiple Endocrine Neoplasia, Type 2b

Men Iib

Neuromata, Mucosal, With Endocrine Tumors

Multiple Endocrine Neoplasia, Type Iii, Formerly

Men3, Formerly

Men Type Iib

Men 2b

Multiple Endocrine Neoplasia Type 3

Multiple Neoplasia 2b

Neoplasia, Endocrine, Multiple, Type Iib

Connective Tissue Benign Neoplasm

Soft Tissue Neoplasms

Mesenchymal Tissue Neoplasm

Neoplasm Of Soft Tissue

Neoplasm Of Soft Tissues

Soft Tissue Benign Neoplasm

Tumor Of The Soft Tissue

Soft Tissue Neoplasm

Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm

Ovary Leiomyosarcoma

Leiomyosarcoma Of Ovary

Thyroid Gland Follicular Carcinoma

Follicular Thyroid Carcinoma

Follicular Adenocarcinoma

Follicular Adenocarcinoma, Well Differentiated

Follicular Carcinoma

Thyroid Adenocarcinoma

Adenocarcinoma, Follicular

Borst-Jadassohn Intraepidermal Carcinoma

Intraepidermal Epithelioma Of Jadassohn

Bowen'S Disease, Clonal

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach 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

Metatypical Basal Cell Carcinoma

Skin Metatypical Carcinoma

Basosquamous Carcinoma Of Skin

Skin Metatypical Basal Cell Carcinoma

Hair Follicle Neoplasm

Hair Matrix Neoplasm

Hair Matrix Tumour

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]

Joubert Syndrome 8

JBTS8

Joubert Syndrome, Type 8

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Small Intestine Leiomyoma

Leiomyoma, Small Bowel

Leiomyoma Of Small Intestine

Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome

Spiegler-Brooke Syndrome

Familial Cylindromatosis

BRSS

Bss

Sbs

Multiple Familial Trichoepithelioma

Ancell-Spiegler Cylindromas

Familial Multiple Trichoepithelioma

Trichoepithelioma

Fc

Mft

Multiple Familial Trichoepitheliomas

Ccs

Turban Tumor Syndrome

Schilbach-Rott Syndrome

Eccrine Dermal Cylindroma

Familial Multiple Trichoepitheliomata

Laryngeal Neuroendocrine Tumor

Laryngeal Neuroendocrine Tumour

Neuroendocrine Tumor Of Larynx

Neuroendocrine Tumour Of Larynx

Neuroendocrine Neoplasm Of Larynx

Atypical Teratoid Rhabdoid Tumor

Rhabdoid Tumor Predisposition Syndrome

Rtps

Atypical Teratoid/Rhabdoid Tumor

Rhabdoid Predisposition Syndrome

Familial Posterior Fossa Brain Tumor Of Infancy

Familial Rhabdoid Tumor

At/Rt

Atypical Teratoid Rhabdoid Tumour

Atypical Teratoid/Rhabdoid Tumour

Rhabdoid Tumor Of The Cns

Rhabdoid Tumour Of The Cns

Familial Posterior Fossa Brain Tumor Syndrome

Hereditary Swi/Snf Deficiency Syndrome

Atrt

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel 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 24

JBTS24

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia

Orofacial Cleft

Cleft, Orofacial

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Joubert Syndrome 32

JBTS32

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Integumentary System Disease
Thyroid Gland Anaplastic Carcinoma

Anaplastic Thyroid Carcinoma

Anaplastic Thyroid Cancer

Thyroid Cancer, Anaplastic

Thyroid Carcinoma, Anaplastic

Thyroid Carcinoma Anaplastic

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Anus Basaloid Carcinoma

Basaloid Carcinoma Of The Anus

Anal Basaloid Carcinoma

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

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

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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

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 PTCH1 VGNC VGNC:49951
Rattus norvegicus PTCH1 RGD RGD:621425
Mus musculus PTCH1 MGD MGI:105373
Felis catus PTCH1 VGNC VGNC:69135
Macaca mulatta PTCH1 VGNC VGNC:76463
Bos taurus PTCH1 VGNC VGNC:106881