AI1G
MCID: AML044
MIFTS: 54

Amelogenesis Imperfecta, Type Ig (AI1G)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Ig

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ig:

Name: Amelogenesis Imperfecta, Type Ig 57 39
Amelogenesis Imperfecta Type 1g 12 29 6 15
Enamel-Renal Syndrome 57 12 58 72
Ers 57 12 72 15
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome 57 12 72
Enamel-Renal-Gingival Syndrome 57 12 72
Aigfs 57 12 72
Ai1g 57 12 72
Fibromatosis, Gingival 44 39
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; Aigfs 57
Amelogenesis Imperfecta, Hypoplastic, with Nephrocalcinosis 57
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis 12
Hypoplastic Amelogenesis Imperfecta with Nephrocalcinosis 72
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome 58
Amelogenesis Imperfecta Nephrocalcinosis 70
Amelogenesis Imperfecta Type Ig 12
Enamel-Renal Syndrome; Ers 57
Amelogenesis Imperfecta 1g 72

Characteristics:

Orphanet epidemiological data:

58
enamel-renal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age of onset of renal manifestations


HPO:

31
amelogenesis imperfecta, type ig:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0110066
OMIM® 57 204690
OMIM Phenotypic Series 57 PS104500
ICD10 32 K00.5
MESH via Orphanet 45 C538241
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 71 C0403549 C2931783
Orphanet 58 ORPHA1031
MedGen 41 C2931783
UMLS 70 C2931783

Summaries for Amelogenesis Imperfecta, Type Ig

OMIM® : 57 Amelogenesis imperfecta type IG, also known as enamel-renal syndrome, is characterized by hypoplastic enamel on primary and secondary dentition, pulp stones, delayed or failed eruption of secondary dentition, gingival overgrowth, and nephrocalcinosis. Blood chemistry analyses are typically normal, and nephrocalcinosis, which is found on renal ultrasound, may not appear until later in life (summary by Wang et al., 2013). (204690) (Updated 20-May-2021)

MalaCards based summary : Amelogenesis Imperfecta, Type Ig, also known as amelogenesis imperfecta type 1g, is related to gingival fibromatosis and amelogenesis imperfecta, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta, Type Ig is FAM20A (FAM20A Golgi Associated Secretory Pathway Pseudokinase), and among its related pathways/superpathways are Gene Expression and Pathways in cancer. Affiliated tissues include breast, lung and liver, and related phenotypes are gingival overgrowth and nephropathy

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.

UniProtKB/Swiss-Prot : 72 Amelogenesis imperfecta 1G: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth.

Related Diseases for Amelogenesis Imperfecta, Type Ig

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ij
Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iiic
Amelogenesis Imperfecta Type 2a1

Diseases related to Amelogenesis Imperfecta, Type Ig via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 315)
# Related Disease Score Top Affiliating Genes
1 gingival fibromatosis 31.3 GINGF4 GINGF3 GINGF2 FAM20A
2 amelogenesis imperfecta 30.9 PRKAR1A PGR PELP1 PAGR1 NCOA3 LCOR
3 breast disease 30.5 PGR H2AC18 ESR2 ESR1 CYP19A1
4 estrogen-receptor positive breast cancer 30.4 PGR NCOA3 GPER1 ESR2 ESR1 CYP19A1
5 endometrial cancer 30.4 PGR NCOA3 GPER1 FOS ESRRA ESR2
6 breast cancer 30.3 PGR PELP1 NCOA3 H2AC18 GPER1 FOS
7 ovarian cancer 30.3 PGR NCOA3 H2AC18 GPER1 FOS ESR2
8 fibromatosis, gingival, 1 11.7
9 fibromatosis, gingival, 5 11.7
10 fibromatosis, gingival, 2 11.5
11 fibromatosis, gingival, 3 11.5
12 fibromatosis, gingival, 4 11.5
13 zimmermann-laband syndrome 1 11.4
14 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.2
15 fibromatosis, gingival, with progressive deafness 11.2
16 fibromatosis, gingival, with distinctive facies 11.2
17 fibromatosis, gingival, with hypertrichosis and mental retardation 11.2
18 idiopathic interstitial pneumonia 11.0
19 amelogenesis imperfecta hypoplastic type, ig 11.0
20 lung cancer susceptibility 3 10.6
21 adenocarcinoma 10.6
22 breast adenoma 10.6 PRKAR1A PGR ESR1
23 comedo carcinoma 10.6 PGR LCOR ESR1
24 oncocytic breast carcinoma 10.6 PGR ESR1 AR
25 progesterone-receptor positive breast cancer 10.6 PGR ESR2 ESR1 CYP19A1
26 endometriosis of ovary 10.6 PGR ESR2 ESR1 CYP19A1
27 endometriosis 10.6 PGR ESR2 ESR1 CYP19A1
28 progesterone resistance 10.6 PGR ESR2 ESR1
29 transsexualism 10.6 ESR2 CYP19A1 AR
30 thoracic benign neoplasm 10.6 PRKAR1A PGR LCOR ESR2 ESR1
31 vaginal cancer 10.6 PGR ESR2 ESR1
32 breast benign neoplasm 10.6 PRKAR1A PGR LCOR ESR2 ESR1
33 estrogen excess 10.6 PGR GPER1 ESR2 ESR1 CYP19A1
34 glassy cell carcinoma of the cervix 10.6 PGR ESR1
35 mixed cell type cancer 10.6 PGR LCOR H2AC18 ESR1
36 sertoli cell tumor 10.6 PRKAR1A PGR CYP19A1 AR
37 ovarian endometrioid stromal sarcoma 10.6 PGR CYP19A1 AR
38 adenomyosis 10.6 PGR ESR2 ESR1 CYP19A1
39 breast intraductal papillomatosis 10.6 PGR ESR1
40 juvenile nasopharyngeal angiofibroma 10.6 PGR ESR1 CYP19A1
41 nipple carcinoma 10.6 PGR ESR1
42 vaginal discharge 10.6 PGR ESR1 CYP19A1
43 apocrine sweat gland neoplasm 10.6 PGR ESR1 AR
44 hypertrophy of breast 10.6 PGR ESR1 CYP19A1
45 apocrine adenocarcinoma 10.6 PGR ESR1 AR
46 bartholin's gland adenoma 10.6 PGR ESR1
47 prostatic hypertrophy 10.6 PGR ESR1 CYP19A1 AR
48 bartholin's gland adenoid cystic carcinoma 10.6 PGR ESR1
49 primary pigmented nodular adrenocortical disease 10.6 PRKAR1A PGR FAM20A ESR2 ESR1 CYP19A1
50 gender identity disorder 10.6 PGR ESR2 ESR1 CYP19A1 AR

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Type Ig:



Diseases related to Amelogenesis Imperfecta, Type Ig

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ig

Human phenotypes related to Amelogenesis Imperfecta, Type Ig:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
2 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
3 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
4 nephrocalcinosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000121
5 yellow-brown discoloration of the teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006286
6 amelogenesis imperfecta 58 31 hallmark (90%) Very frequent (99-80%) HP:0000705
7 increased circulating osteocalcin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0031428
8 abnormal calcium-phosphate regulating hormone level 31 hallmark (90%) HP:0100530
9 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
10 enuresis 58 31 frequent (33%) Frequent (79-30%) HP:0000805
11 hypocalciuria 58 31 frequent (33%) Frequent (79-30%) HP:0003127
12 impaired renal concentrating ability 58 31 frequent (33%) Frequent (79-30%) HP:0004727
13 hypophosphaturia 58 31 frequent (33%) Frequent (79-30%) HP:0012365
14 abnormality of dental enamel 58 Very frequent (99-80%)
15 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
16 abnormality of dental color 58 Very frequent (99-80%)
17 delayed eruption of permanent teeth 31 HP:0000696
18 overgrowth 31 HP:0001548
19 polyuria 31 HP:0000103
20 dagger-shaped pulp calcifications 31 HP:0006302

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
gingival overgrowth
amelogenesis imperfecta, hypoplastic
yellow-brown teeth
delayed permanent dentition
coronal and radicular dagger-shaped pulpal calcifications
more
Genitourinary Bladder:
enuresis

Laboratory Abnormalities:
increased serum osteocalcin
decreased urinary calcium and phosphate excretion

Genitourinary Kidneys:
nephrocalcinosis
impaired renal concentrating ability
renal failure

Metabolic Features:
polyuria

Clinical features from OMIM®:

204690 (Updated 20-May-2021)

UMLS symptoms related to Amelogenesis Imperfecta, Type Ig:


polyuria

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ig:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 AKT1 AR CYP19A1 ESR1 ESR2 ESRRG
2 cellular MP:0005384 10.22 AKT1 AR CYP19A1 ESR1 ESR2 ESRRG
3 endocrine/exocrine gland MP:0005379 10.16 AKT1 AR CYP19A1 ESR1 ESR2 FOS
4 adipose tissue MP:0005375 10.11 AKT1 AR CYP19A1 ESR1 ESR2 FOS
5 integument MP:0010771 10.09 AKT1 AR CYP19A1 ESR1 ESR2 FOS
6 liver/biliary system MP:0005370 9.97 AKT1 AR CYP19A1 ESR1 ESR2 GPER1
7 limbs/digits/tail MP:0005371 9.95 AR ESR1 ESR2 FAM20A FOS GPER1
8 muscle MP:0005369 9.92 AKT1 AR CYP19A1 ESR1 ESR2 NCOA3
9 neoplasm MP:0002006 9.86 AKT1 AR ESR1 ESR2 FOS NCOA3
10 normal MP:0002873 9.81 AKT1 AR CYP19A1 ESR1 ESR2 FOS
11 reproductive system MP:0005389 9.65 AKT1 AR CYP19A1 ESR1 ESR2 FOS
12 skeleton MP:0005390 9.36 AKT1 AR CYP19A1 ESR1 ESR2 FAM20A

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ig

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Ig

Cochrane evidence based reviews: fibromatosis, gingival

Genetic Tests for Amelogenesis Imperfecta, Type Ig

Genetic tests related to Amelogenesis Imperfecta, Type Ig:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta Type 1g 29 FAM20A

Anatomical Context for Amelogenesis Imperfecta, Type Ig

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Ig:

40
Breast, Lung, Liver, Bone, Ovary, Kidney, Prostate

Publications for Amelogenesis Imperfecta, Type Ig

Articles related to Amelogenesis Imperfecta, Type Ig:

(show all 38)
# Title Authors PMID Year
1
FAM20A mutations associated with enamel renal syndrome. 57 61 6
24196488 2014
2
FAM20A mutations can cause enamel-renal syndrome (ERS). 61 57 6
23468644 2013
3
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. 61 6 57
23434854 2012
4
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 57 6
21990045 2012
5
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. 6 57
21549343 2011
6
Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. 57 6
18597613 2008
7
Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature. 57
21212699 2011
8
Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. 57
15721155 2005
9
Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. 57
12597691 2003
10
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. 57
9870488 1998
11
Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings. 57
7600222 1995
12
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 57
3150442 1988
13
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. 57
3872071 1985
14
Generalized enamel hypoplasia and renal dysfunction. 57
4504766 1972
15
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature. 61
32835847 2020
16
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. 61
32246227 2020
17
Syndromes with gingival fibromatosis: A systematic review. 61
32335995 2020
18
Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome. 61
33425910 2020
19
Transcriptome analysis of gingival tissues of enamel-renal syndrome. 61
31131889 2019
20
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 61
30394349 2019
21
Association of enamel-renal syndrome with sialolith: A rare entity. 61
30967741 2019
22
Enamel renal gingival syndrome: A rare case report. 61
30692747 2019
23
Enamel-Renal-Syndrome: case report. 61
29672880 2018
24
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. 61
29439260 2018
25
Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome. 61
29166418 2018
26
Association of Amelogenesis Imperfecta and Bartter's Syndrome. 61
28904439 2017
27
Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child. 61
27541981 2017
28
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. 61
28086997 2017
29
Enamel Renal Syndrome: A Case History Report. 61
28085972 2017
30
FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? 61
28515694 2017
31
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. 61
26740946 2015
32
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. 61
26389061 2015
33
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. 61
24927635 2014
34
Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review. 61
24960394 2014
35
Enamel-renal-gingival syndrome and FAM20A mutations. 61
24259279 2014
36
Enamel renal syndrome: a rare case report. 61
22918105 2012
37
Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome. 61
23341834 2012
38
Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? 61
16799168 2006

Variations for Amelogenesis Imperfecta, Type Ig

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ig:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM20A NM_017565.4(FAM20A):c.32_33CT[1] (p.Leu12fs) Microsatellite Pathogenic 35475 rs587776911 GRCh37: 17:66596773-66596774
GRCh38: 17:68600632-68600633
2 FAM20A NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) SNV Pathogenic 30879 rs144411158 GRCh37: 17:66551883-66551883
GRCh38: 17:68555742-68555742
3 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) Deletion Pathogenic 1029473 GRCh37: 17:66538845-66538848
GRCh38: 17:68542704-68542707
4 FAM20A NM_017565.4(FAM20A):c.612del (p.Leu205fs) Deletion Pathogenic 139650 rs587777531 GRCh37: 17:66550946-66550946
GRCh38: 17:68554805-68554805
5 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) SNV Pathogenic 139649 rs139620139 GRCh37: 17:66533812-66533812
GRCh38: 17:68537671-68537671
6 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.720-2A>G SNV Pathogenic 139648 rs587777530 GRCh37: 17:66539864-66539864
GRCh38: 17:68543723-68543723
7 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) SNV Pathogenic 35479 rs387907215 GRCh37: 17:66538937-66538937
GRCh38: 17:68542796-68542796
8 FAM20A NM_017565.4(FAM20A):c.590-2A>G SNV Pathogenic 35478 rs587776914 GRCh37: 17:66550970-66550970
GRCh38: 17:68554829-68554829
9 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) Deletion Pathogenic 35477 rs587776913 GRCh37: 17:66537030-66537034
GRCh38: 17:68540889-68540893
10 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.813-2A>G SNV Pathogenic 35476 rs587776912 GRCh37: 17:66538952-66538952
GRCh38: 17:68542811-68542811
11 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.1219+3_1219+6del Microsatellite Likely pathogenic 873033 GRCh37: 17:66536984-66536987
GRCh38: 17:68540843-68540846
12 FAM20A , PRKAR1A NM_017565.4(FAM20A):c.885del (p.Thr296fs) Deletion Likely pathogenic 587516 rs1568724130 GRCh37: 17:66538878-66538878
GRCh38: 17:68542737-68542737

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type Ig:

72
# Symbol AA change Variation ID SNP ID
1 FAM20A p.Leu173Arg VAR_072170
2 FAM20A p.Gly331Asp VAR_072171 rs981673034
3 FAM20A p.Asp403Asn VAR_072172 rs377432171

Expression for Amelogenesis Imperfecta, Type Ig

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Ig.

Pathways for Amelogenesis Imperfecta, Type Ig

Pathways related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 PGR PELP1 H2AC18 FOS ESRRG ESRRA
2 12.77 NCOA3 FOS ESR2 ESR1 AR AKT1
3
Show member pathways
12.69 PGR NCOA3 FOS ESR2 ESR1 AKT1
4
Show member pathways
12.6 NCOA3 GPER1 FOS ESR2 ESR1 AKT1
5
Show member pathways
12.38 FOS ESR2 ESR1 AKT1
6
Show member pathways
12.26 PRKAR1A NCOA3 ESR2 ESR1 AKT1
7 12.06 NCOA3 ESR1 CYP19A1 AR AKT1
8 11.81 FOS ESR2 ESR1 AR AKT1
9 11.76 NCOA3 AR AKT1
10 11.7 FOS ESR1 AR AKT1
11
Show member pathways
11.64 NCOA3 FOS ESR1
12
Show member pathways
11.63 PGR NCOA3 FOS ESR1
13 11.61 FOS ESR1 AKT1
14 11.59 GPER1 ESR2 AKT1
15 11.53 PELP1 AR AKT1
16
Show member pathways
11.42 NCOA3 FOS ESR1 AR
17 11.41 FOS CYP19A1 AR
18
Show member pathways
11.39 PGR ESRRG ESRRA ESR2 ESR1 AR
19 11.31 PGR NCOA3 GPER1 FOS ESR2 ESR1
20 11.26 PGR ESR2 CYP19A1
21 11.18 FOS ESR2 ESR1
22 11.12 PELP1 ESR2 ESR1 AKT1
23 10.98 PELP1 FOS ESR2 ESR1
24 10.92 GPER1 FOS ESR1 AKT1
25 10.71 PELP1 FOS AR AKT1
26 10.15 ESR2 ESR1 CYP19A1

GO Terms for Amelogenesis Imperfecta, Type Ig

Cellular components related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10 PGR PELP1 PAGR1 NCOA3 LCOR H2AC18
2 nucleoplasm GO:0005654 9.73 PGR PELP1 NCOA3 LCOR GPER1 FOS
3 chromatin GO:0000785 9.28 PGR NCOA3 H2AC18 FOS ESRRG ESRRA

Biological processes related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 PGR NCOA3 FOS ESRRG ESRRA ESR2
2 regulation of transcription by RNA polymerase II GO:0006357 10.11 PRKAR1A PGR LCOR FOS ESRRG ESRRA
3 positive regulation of transcription, DNA-templated GO:0045893 9.98 FOS ESRRG ESRRA ESR2 ESR1 AR
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.8 PGR ESRRG ESRRA ESR2 ESR1 AR
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 PGR PELP1 PAGR1 NCOA3 GPER1 FOS
6 intracellular receptor signaling pathway GO:0030522 9.67 ESRRA ESR1 AR
7 cellular response to estradiol stimulus GO:0071392 9.65 NCOA3 LCOR GPER1 ESR2 ESR1
8 intracellular estrogen receptor signaling pathway GO:0030520 9.58 ESR2 ESR1 AR
9 steroid hormone mediated signaling pathway GO:0043401 9.55 PGR GPER1 ESRRG ESRRA ESR1
10 cellular response to estrogen stimulus GO:0071391 9.54 PELP1 ESR1 AR
11 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.52 PAGR1 AR
12 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.48 PGR AR
13 intracellular steroid hormone receptor signaling pathway GO:0030518 9.02 PGR GPER1 ESR2 ESR1 AR

Molecular functions related to Amelogenesis Imperfecta, Type Ig according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.15 PGR LCOR H2AC18 FOS ESRRG ESRRA
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.1 PGR FOS ESRRG ESRRA ESR2 ESR1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10.07 PGR FOS ESRRG ESRRA ESR2 ESR1
4 zinc ion binding GO:0008270 10.04 PGR ESRRG ESRRA ESR2 ESR1 AR
5 chromatin binding GO:0003682 9.95 PELP1 GPER1 FOS ESR1 AR
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.93 PGR FOS ESRRG ESR1 AR
7 DNA-binding transcription factor activity GO:0003700 9.91 PGR FOS ESRRG ESRRA ESR2 ESR1
8 enzyme binding GO:0019899 9.88 PGR ESR2 ESR1 AR AKT1
9 sequence-specific DNA binding GO:0043565 9.87 PGR FOS ESRRG ESRRA ESR2 ESR1
10 ATPase binding GO:0051117 9.75 PGR ESR1 AR
11 nuclear receptor activity GO:0004879 9.63 PGR ESRRG ESRRA ESR2 ESR1 AR
12 estrogen receptor binding GO:0030331 9.61 PAGR1 LCOR ESR1
13 nitric-oxide synthase regulator activity GO:0030235 9.51 ESR1 AKT1
14 RNA polymerase II transcription coactivator binding GO:0001225 9.46 PGR AR
15 estrogen receptor activity GO:0030284 9.43 GPER1 ESR2 ESR1
16 steroid hormone receptor activity GO:0003707 9.43 PGR GPER1 ESRRG ESRRA ESR2 ESR1
17 estrogen response element binding GO:0034056 9.4 ESR2 ESR1
18 steroid binding GO:0005496 9.17 PGR GPER1 ESRRG ESRRA ESR2 ESR1

Sources for Amelogenesis Imperfecta, Type Ig

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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