CJS
MCID: CLL036
MIFTS: 51

Culler-Jones Syndrome (CJS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Culler-Jones Syndrome

MalaCards integrated aliases for Culler-Jones Syndrome:

Name: Culler-Jones Syndrome 56 12 52 58 73 29 6 15 39 71
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome 52 58
Cjs 56 73
Pallister-Hall Syndrome 2, Formerly; Phs2, Formerly 56
Pallister-Hall Syndrome 2, Formerly 56
Pallister-Hall Syndrome 2 73
Phs2, Formerly 56
Phs2 73

Characteristics:

Orphanet epidemiological data:

58
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

56
Miscellaneous:
variable expressivity
incomplete penetrance
variable phenotype

Inheritance:
autosomal dominant


HPO:

31
culler-jones syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080328
OMIM 56 615849
MeSH 43 D054975
ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA420584
UMLS 71 C4014479

Summaries for Culler-Jones Syndrome

NIH Rare Diseases : 52 Culler-Jones syndrome is a rare disease characterized by pituitary anomalies resulting in hypopituitarism , presence of extra fingers (polydactyly ) and unusual facial features. Symptoms related to the hypopituitarism may include abdominal pain, decreased appetite, short stature , delayed bone age , diabetes insipidus , slowed growth and sexual development, undescended testis (cryptorchidism) and small penis (hypogonadotropic hypogonadism ). Facial features include eyes that appear very close together (hypotelorism), cleft palate and cleft lip and a flat nose. The extra digits are usually located on the outside of the little fingers (post-axial polydactyly ). Brain imaging may show a small anterior pituitary gland . Culler-Jones syndrome is caused by changes (mutations ) in the GLI2 gene . Inheritance is autosomal dominant . Treatment may include replacement of the hormones that are lacking due to the hypopituitarism, and surgery to correct the extra digits and the facial defects. Mutations in the GLI2 gene can also cause a different condition known as holoprosencephaly-9 (HPE9) which is much more severe. That condition is characterized by a single-lobed brain structure and severe skull and facial defects.

MalaCards based summary : Culler-Jones Syndrome, also known as postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, is related to hypopituitarism and holoprosencephaly. An important gene associated with Culler-Jones Syndrome is GLI2 (GLI Family Zinc Finger 2), and among its related pathways/superpathways are Signaling by Hedgehog and Translation Non-genomic (rapid) action of Androgen Receptor. Affiliated tissues include pituitary, bone and eye, and related phenotypes are global developmental delay and cleft palate

Disease Ontology : 12 A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has material basis in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.

OMIM : 56 Culler-Jones syndrome (CJS) is an autosomal dominant disorder characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The phenotype is highly variable, and some patients may have midline facial defects and developmental delay. The disorder shows incomplete penetrance and variable expressivity (summary by Franca et al., 2010). (615849)

UniProtKB/Swiss-Prot : 73 Culler-Jones syndrome: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia.

Related Diseases for Culler-Jones Syndrome

Diseases related to Culler-Jones Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 hypopituitarism 30.3 SIX3 SHH GLI2
2 holoprosencephaly 28.9 TGIF1 SIX3 SHH IHH GLI3 GLI2
3 fibromatosis, gingival, with progressive deafness 10.3
4 holoprosencephaly, recurrent infections, and monocytosis 10.3 SIX3 GLI2
5 hemimelia 10.3 GLI3 GLI2
6 anxiety 10.3
7 white-sutton syndrome 10.2 GLI3 GLI2
8 conduct disorder 10.2
9 autism spectrum disorder 10.1
10 viral hepatitis 10.1
11 orchitis 10.1
12 oropharynx cancer 10.1
13 age-related hearing loss 10.1
14 melanotic medulloblastoma 10.1 SHH GLI2
15 nodular medulloblastoma 10.1 SHH GLI2
16 adult medulloblastoma 10.1 SHH GLI2
17 atherosclerosis susceptibility 10.1
18 autism 10.1
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
20 hepatitis a 10.1
21 mood disorder 10.1
22 plague 10.1
23 scrapie 10.1
24 48,xyyy 10.1
25 cytokine deficiency 10.1
26 chronic pain 10.1
27 tibia, hypoplasia or aplasia of, with polydactyly 10.0 SHH GLI3
28 patau syndrome 10.0 SIX3 SHH
29 laurin-sandrow syndrome 10.0 SHH GLI3
30 pancreas, annular 10.0 SHH IHH
31 acrocapitofemoral dysplasia 9.9 SHH IHH
32 anus, imperforate 9.9 SHH GLI3 GLI2
33 pituitary hypoplasia 9.9 TGIF1 SHH
34 corpus callosum lipoma 9.9 SIX3 SHH GLI2
35 cerebral hemisphere lipoma 9.9 SIX3 SHH GLI2
36 schizencephaly 9.9 SIX3 SHH
37 holoprosencephaly 3 9.9 SIX3 SHH GLI2
38 esophageal atresia 9.9 SHH GLI3 GLI2
39 alcohol dependence 9.9
40 creutzfeldt-jakob disease 9.9
41 attention deficit-hyperactivity disorder 9.9
42 renal cell carcinoma, nonpapillary 9.9
43 hypertension, essential 9.9
44 hyperthyroxinemia, dystransthyretinemic 9.9
45 keratitis, hereditary 9.9
46 papillomatosis, confluent and reticulated 9.9
47 lymphoma, hodgkin, classic 9.9
48 kuru 9.9
49 insulin-like growth factor i 9.9
50 yemenite deaf-blind hypopigmentation syndrome 9.9

Graphical network of the top 20 diseases related to Culler-Jones Syndrome:



Diseases related to Culler-Jones Syndrome

Symptoms & Phenotypes for Culler-Jones Syndrome

Human phenotypes related to Culler-Jones Syndrome:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 cleft palate 31 occasional (7.5%) HP:0000175
3 diabetes insipidus 31 occasional (7.5%) HP:0000873
4 cleft upper lip 31 occasional (7.5%) HP:0000204
5 hypotelorism 31 occasional (7.5%) HP:0000601
6 midface retrusion 31 occasional (7.5%) HP:0011800
7 postaxial polydactyly 31 occasional (7.5%) HP:0100259
8 short stature 31 HP:0004322
9 cryptorchidism 31 HP:0000028
10 micropenis 31 HP:0000054
11 hypogonadism 31 HP:0000135
12 anterior pituitary hypoplasia 31 HP:0010627
13 hypopituitarism 31 HP:0040075
14 ectopic posterior pituitary 31 HP:0011755

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk
delayed psychomotor development (in some patients)

Head And Neck Mouth:
cleft lip (in some patients)
cleft palate (in some patients)

Head And Neck Face:
midface hypoplasia (in some patients)

Skeletal Feet:
postaxial polydactyly (in some patients)

Genitourinary External Genitalia Male:
cryptorchidism
micropenis

Endocrine Features:
hypopituitarism
hypogonadotropic hypogonadism
diabetes insipidus (in some patients)
combined pituitary hormone deficiency
low or absent growth hormone
more
Head And Neck Eyes:
hypotelorism (in some patients)

Skeletal Hands:
postaxial polydactyly (in some patients)

Clinical features from OMIM:

615849

MGI Mouse Phenotypes related to Culler-Jones Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.1 CCM2 CDON GLI2 GLI3 IHH SHH
2 growth/size/body region MP:0005378 10.09 CCM2 CDON GLI2 GLI3 IHH PHF2
3 embryo MP:0005380 10.06 CCM2 CDON GLI2 GLI3 IHH SHH
4 mortality/aging MP:0010768 10.02 CCM2 CDON GLI2 GLI3 IHH PHF2
5 nervous system MP:0003631 9.97 CCM2 CDON GLI2 GLI3 IHH PHF2
6 digestive/alimentary MP:0005381 9.95 CDON GLI2 GLI3 IHH SHH SIX3
7 limbs/digits/tail MP:0005371 9.88 CDON GLI2 GLI3 IHH SHH TGIF1
8 respiratory system MP:0005388 9.8 CDON GLI2 GLI3 IHH SHH SIX3
9 skeleton MP:0005390 9.7 CDON GLI2 GLI3 IHH SHH SIX3
10 taste/olfaction MP:0005394 9.26 GLI3 SHH SIX3 TGIF1
11 vision/eye MP:0005391 9.23 CCM2 CDON GLI2 GLI3 IHH SHH

Drugs & Therapeutics for Culler-Jones Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Integrating Services for Noncommunicable Diseases in Continuum of Care for Mothers and Children: a Cluster Randomized Control Trial in Myanmar Completed NCT03145155

Search NIH Clinical Center for Culler-Jones Syndrome

Genetic Tests for Culler-Jones Syndrome

Genetic tests related to Culler-Jones Syndrome:

# Genetic test Affiliating Genes
1 Culler-Jones Syndrome 29 GLI2

Anatomical Context for Culler-Jones Syndrome

MalaCards organs/tissues related to Culler-Jones Syndrome:

40
Pituitary, Bone, Eye, Brain, Heart, Testis, Thyroid

Publications for Culler-Jones Syndrome

Articles related to Culler-Jones Syndrome:

# Title Authors PMID Year
1
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 6 56
20685856 2010
2
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. 6 56
15994174 2005
3
Hypopituitarism in association with postaxial polydactyly. 56 6
6726521 1984
4
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. 56
24744436 2014
5
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 56
22967285 2013
6
Clinical findings in patients with GLI2 mutations--phenotypic variability. 56
21204792 2012
7
Interaction of staphylococcal delta-toxin and synthetic analogues with erythrocytes and phospholipid vesicles. Biological and physical properties of the amphipathic peptides. 52
2474443 1989
8
A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome. 61
30583238 2019
9
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. 61
30629636 2019
10
Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model. 61
29298444 2017

Variations for Culler-Jones Syndrome

ClinVar genetic disease variations for Culler-Jones Syndrome:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLI2 NM_001374353.1(GLI2):c.322del (p.Ala108fs)deletion Pathogenic 520904 rs1553471273 2:121708885-121708885 2:120951309-120951309
2 GLI2 NM_001374353.1(GLI2):c.2263del (p.Ser755fs)deletion Pathogenic 522404 rs1553478423 2:121745804-121745804 2:120988228-120988228
3 GLI2 NM_001374353.1(GLI2):c.192dup (p.Asp65Ter)duplication Pathogenic 573009 rs1388607733 2:121684978-121684979 2:120927402-120927403
4 GLI2 NM_001374353.1(GLI2):c.3567del (p.Gln1189fs)deletion Pathogenic 863253 2:121747108-121747108 2:120989532-120989532
5 GLI2 GLI2, 1256TERSNV Pathogenic 139428
6 GLI2 NM_001374353.1(GLI2):c.2311_2317del (p.Leu771fs)deletion Pathogenic 139429 rs587777455 2:121745849-121745855 2:120988273-120988279
7 GLI2 NM_001374353.1(GLI2):c.2030_2033del (p.Leu677fs)deletion Pathogenic 139430 rs587777456 2:121743977-121743980 2:120986401-120986404
8 GLI2 NM_001374353.1(GLI2):c.1138G>T (p.Glu380Ter)SNV Pathogenic 139431 rs374155310 2:121729595-121729595 2:120972019-120972019
9 GLI2 NM_001374353.1(GLI2):c.1889del (p.Lys630fs)deletion Likely pathogenic 816883 2:121742302-121742302 2:120984726-120984726
10 GLI2 NM_001374353.1(GLI2):c.1905+1G>ASNV Likely pathogenic 576501 rs1558937172 2:121742320-121742320 2:120984744-120984744
11 GLI2 NM_001374353.1(GLI2):c.2886G>A (p.Leu962=)SNV Conflicting interpretations of pathogenicity 596158 rs777165274 2:121746427-121746427 2:120988851-120988851
12 GLI2 NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys)SNV Conflicting interpretations of pathogenicity 475119 rs143914758 2:121747688-121747688 2:120990112-120990112
13 GLI2 NM_001374353.1(GLI2):c.132G>A (p.Ala44=)SNV Conflicting interpretations of pathogenicity 193310 rs145778937 2:121555028-121555028 2:120797452-120797452
14 GLI2 NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)SNV Conflicting interpretations of pathogenicity 194224 rs141988240 2:121746959-121746959 2:120989383-120989383
15 GLI2 NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)SNV Conflicting interpretations of pathogenicity 194222 rs200831069 2:121745792-121745792 2:120988216-120988216
16 GLI2 NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)SNV Conflicting interpretations of pathogenicity 198528 rs200076785 2:121729577-121729577 2:120972001-120972001
17 GLI2 NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)SNV Conflicting interpretations of pathogenicity 282300 rs147044066 2:121712970-121712970 2:120955394-120955394
18 GLI2 NM_001374353.1(GLI2):c.2865T>A (p.Pro955=)SNV Conflicting interpretations of pathogenicity 330982 rs747247646 2:121746406-121746406 2:120988830-120988830
19 GLI2 NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln)SNV Uncertain significance 330981 rs886054813 2:121746231-121746231 2:120988655-120988655
20 GLI2 NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr)SNV Uncertain significance 282738 rs751028726 2:121746044-121746044 2:120988468-120988468
21 GLI2 NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro)SNV Uncertain significance 443998 rs772017351 2:121736067-121736067 2:120978491-120978491
22 GLI2 NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser)SNV Uncertain significance 475118 rs1553477146 2:121740314-121740314 2:120982738-120982738
23 GLI2 NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro)SNV Uncertain significance 541904 rs781771721 2:121709015-121709015 2:120951439-120951439
24 GLI2 NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro)SNV Uncertain significance 565646 rs1558923316 2:121726359-121726359 2:120968783-120968783
25 GLI2 NM_001374353.1(GLI2):c.677G>A (p.Arg226His)SNV Uncertain significance 665586 2:121726323-121726323 2:120968747-120968747
26 GLI2 NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met)SNV Uncertain significance 645913 2:121729635-121729635 2:120972059-120972059
27 GLI2 NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys)SNV Uncertain significance 650369 2:121744055-121744055 2:120986479-120986479
28 GLI2 NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His)SNV Uncertain significance 662958 2:121747383-121747383 2:120989807-120989807
29 GLI2 NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)SNV Uncertain significance 840599 2:121742086-121742086 2:120984510-120984510
30 GLI2 NM_001374353.1(GLI2):c.2860G>A (p.Asp954Asn)SNV Uncertain significance 860281 2:121746401-121746401 2:120988825-120988825
31 GLI2 NM_001374353.1(GLI2):c.2209C>A (p.Arg737=)SNV Likely benign 706540 2:121744157-121744157 2:120986581-120986581
32 GLI2 NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu)SNV Likely benign 706119 2:121747571-121747571 2:120989995-120989995
33 GLI2 NM_001374353.1(GLI2):c.2007G>A (p.Thr669=)SNV Likely benign 778727 2:121743955-121743955 2:120986379-120986379
34 GLI2 NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile)SNV Likely benign 767113 2:121747116-121747116 2:120989540-120989540
35 GLI2 NM_001374353.1(GLI2):c.1095C>T (p.Thr365=)SNV Likely benign 789269 2:121729552-121729552 2:120971976-120971976
36 GLI2 NM_001374353.1(GLI2):c.672G>A (p.Thr224=)SNV Likely benign 710564 2:121726318-121726318 2:120968742-120968742
37 GLI2 NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg)SNV Likely benign 718268 2:121746528-121746528 2:120988952-120988952
38 GLI2 NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=)SNV Likely benign 709849 2:121747783-121747783 2:120990207-120990207
39 GLI2 NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=)SNV Likely benign 744274 2:121747103-121747103 2:120989527-120989527
40 GLI2 NM_001374353.1(GLI2):c.78C>T (p.Pro26=)SNV Likely benign 706011 2:121554974-121554974 2:120797398-120797398
41 GLI2 NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu)SNV Likely benign 235325 rs556743028 2:121745978-121745978 2:120988402-120988402
42 GLI2 NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)SNV Likely benign 287567 rs139298853 2:121743982-121743982 2:120986406-120986406
43 GLI2 NM_001374353.1(GLI2):c.252C>T (p.His84=)SNV Likely benign 330966 rs201412339 2:121685040-121685040 2:120927464-120927464
44 GLI2 NM_001374353.1(GLI2):c.845+10G>ASNV Likely benign 330968 rs199673018 2:121726501-121726501 2:120968925-120968925
45 GLI2 NM_001374353.1(GLI2):c.148+5T>CSNV Likely benign 330962 rs201273354 2:121555049-121555049 2:120797473-120797473
46 GLI2 NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=)SNV Benign/Likely benign 282213 rs149290823 2:121747520-121747520 2:120989944-120989944
47 GLI2 NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=)SNV Benign/Likely benign 330993 rs200149538 2:121747711-121747711 2:120990135-120990135
48 GLI2 NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser)SNV Benign/Likely benign 330967 rs542892514 2:121712958-121712958 2:120955382-120955382
49 GLI2 NM_001374353.1(GLI2):c.803C>T (p.Ala268Val)SNV Benign/Likely benign 259737 rs146992756 2:121726449-121726449 2:120968873-120968873
50 GLI2 NM_001374353.1(GLI2):c.2199T>G (p.Thr733=)SNV Benign/Likely benign 330977 rs146909860 2:121744147-121744147 2:120986571-120986571

UniProtKB/Swiss-Prot genetic disease variations for Culler-Jones Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 GLI2 p.Pro608Leu VAR_071700 rs149800897
2 GLI2 p.Arg516Pro VAR_075214

Expression for Culler-Jones Syndrome

Search GEO for disease gene expression data for Culler-Jones Syndrome.

Pathways for Culler-Jones Syndrome

GO Terms for Culler-Jones Syndrome

Cellular components related to Culler-Jones Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary base GO:0097546 9.16 GLI3 GLI2
2 axoneme GO:0005930 9.13 GLI3 GLI2 DYNC2I2
3 ciliary tip GO:0097542 8.8 GLI3 GLI2 DYNC2I2

Biological processes related to Culler-Jones Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.14 TGIF1 SIX3 SHH IHH GLI2 CCM2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 SIX3 SHH IHH GLI3 GLI2 CDON
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 TGIF1 SHH GLI3 GLI2 ARID5A
4 negative regulation of apoptotic process GO:0043066 10.02 SHH IHH GLI3 GLI2
5 heart development GO:0007507 9.95 SHH GLI3 GLI2 CCM2
6 in utero embryonic development GO:0001701 9.94 IHH GLI3 GLI2 CCM2
7 axon guidance GO:0007411 9.92 SHH GLI3 GLI2
8 regulation of cell proliferation GO:0042127 9.92 SIX3 SHH GLI3
9 kidney development GO:0001822 9.87 SHH GLI3 GLI2
10 lung development GO:0030324 9.85 SHH GLI3 GLI2
11 anterior/posterior pattern specification GO:0009952 9.85 SHH GLI3 GLI2 CDON
12 negative regulation of cell differentiation GO:0045596 9.82 SHH IHH GLI3
13 odontogenesis of dentin-containing tooth GO:0042475 9.81 SHH GLI3 GLI2
14 inner ear development GO:0048839 9.81 SHH GLI3 CCM2
15 dorsal/ventral pattern formation GO:0009953 9.8 SHH GLI3 GLI2
16 camera-type eye development GO:0043010 9.78 SIX3 SHH IHH GLI3
17 cell fate specification GO:0001708 9.77 SHH IHH CDON
18 neural tube development GO:0021915 9.75 GLI3 GLI2
19 embryonic organ development GO:0048568 9.75 SHH GLI3
20 limb development GO:0060173 9.75 SHH GLI3
21 lens development in camera-type eye GO:0002088 9.75 SIX3 CDON
22 branching involved in ureteric bud morphogenesis GO:0001658 9.75 SHH GLI3
23 positive regulation of protein import into nucleus GO:0042307 9.75 SHH GLI3
24 vasculature development GO:0001944 9.75 SHH IHH CCM2
25 positive regulation of smoothened signaling pathway GO:0045880 9.74 SHH IHH
26 metanephros development GO:0001656 9.74 SHH GLI3
27 liver regeneration GO:0097421 9.74 IHH GLI3
28 oligodendrocyte differentiation GO:0048709 9.74 SHH GLI3
29 T cell differentiation in thymus GO:0033077 9.74 SHH GLI3
30 developmental growth GO:0048589 9.74 SHH GLI3 GLI2
31 mammary gland development GO:0030879 9.73 GLI3 GLI2
32 branching involved in blood vessel morphogenesis GO:0001569 9.73 SHH IHH
33 pituitary gland development GO:0021983 9.73 SIX3 GLI2
34 neuron fate commitment GO:0048663 9.73 SHH GLI3
35 pancreas development GO:0031016 9.73 SHH IHH
36 telencephalon development GO:0021537 9.73 SIX3 GLI3
37 branching morphogenesis of an epithelial tube GO:0048754 9.73 SHH GLI3 GLI2
38 hair follicle morphogenesis GO:0031069 9.72 SHH GLI2
39 embryonic pattern specification GO:0009880 9.72 SHH IHH
40 negative regulation of smoothened signaling pathway GO:0045879 9.72 GLI3 GLI2
41 proximal/distal pattern formation GO:0009954 9.72 GLI3 GLI2
42 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 SHH IHH
43 positive regulation of neuroblast proliferation GO:0002052 9.71 SHH GLI3
44 hindbrain development GO:0030902 9.71 SHH GLI2
45 striated muscle cell differentiation GO:0051146 9.71 SHH CDON
46 osteoblast development GO:0002076 9.71 SHH GLI2
47 spinal cord motor neuron differentiation GO:0021522 9.71 SHH GLI3 GLI2
48 anatomical structure development GO:0048856 9.71 SIX3 SHH GLI3 GLI2
49 embryonic digestive tract development GO:0048566 9.7 GLI3 GLI2
50 protein autoprocessing GO:0016540 9.7 SHH IHH

Molecular functions related to Culler-Jones Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.7 TGIF1 SIX3 SHH PHF2 IHH GLI3
2 sequence-specific DNA binding GO:0043565 9.56 SIX3 GLI3 GLI2 ARID5A
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 TGIF1 SIX3 GLI3 GLI2
4 patched binding GO:0005113 8.62 SHH IHH

Sources for Culler-Jones Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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