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 56 39
Amelogenesis Imperfecta Type 1g 12 29 6 15
Enamel-Renal Syndrome 56 12 58 73
Ers 56 12 73 15
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome 56 12 73
Enamel-Renal-Gingival Syndrome 56 12 73
Aigfs 56 12 73
Ai1g 56 12 73
Fibromatosis, Gingival 43 39
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; Aigfs 56
Amelogenesis Imperfecta, Hypoplastic, with Nephrocalcinosis 56
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis 12
Hypoplastic Amelogenesis Imperfecta with Nephrocalcinosis 73
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome 58
Amelogenesis Imperfecta Nephrocalcinosis 71
Amelogenesis Imperfecta Type Ig 12
Enamel-Renal Syndrome; Ers 56
Amelogenesis Imperfecta 1g 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 204690
OMIM Phenotypic Series 56 PS104500
ICD10 32 K00.5
MESH via Orphanet 44 C538241
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 72 C0403549 C2931783
Orphanet 58 ORPHA1031
MedGen 41 C2931783
UMLS 71 C2931783

Summaries for Amelogenesis Imperfecta, Type Ig

OMIM : 56 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)

MalaCards based summary : Amelogenesis Imperfecta, Type Ig, also known as amelogenesis imperfecta type 1g, is related to luminal breast carcinoma a and breast cancer, 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 salivary gland, bone and heart, 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 : 73 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 1178)
# Related Disease Score Top Affiliating Genes
1 luminal breast carcinoma a 32.2 PGR LCOR H2AC18 ESR1 CYP19A1 AKT1
2 breast cancer 31.8 PGR PELP1 NCOA3 H2AC18 GPER1 FOS
3 endometriosis 31.0 PGR ESR2 ESR1 CYP19A1
4 in situ carcinoma 30.9 PGR LCOR H2AC18 ESR1 CYP19A1 AKT1
5 ductal carcinoma in situ 30.9 PGR ESR2 ESR1 CYP19A1 AR AKT1
6 breast ductal carcinoma 30.9 PGR ESR2 ESR1 CYP19A1 AR
7 autosomal recessive disease 30.9 H2AC18 GPER1 ESR2 ESR1
8 bone resorption disease 30.8 H2AC18 FOS ESR2 ESR1 CYP19A1
9 sporadic breast cancer 30.7 PGR ESR2 ESR1 CYP19A1
10 female breast cancer 30.7 PGR ESR1 CYP19A1 AR
11 mucinous adenocarcinoma 30.7 PGR ESR2 ESR1
12 endometrial adenocarcinoma 30.7 PGR GPER1 ESR2 ESR1 AKT1
13 prostatic hypertrophy 30.6 PGR ESR1 CYP19A1 AR
14 endometrial cancer 30.6 PGR NCOA3 FOS ESRRA ESR2 ESR1
15 breast adenocarcinoma 30.6 PGR LCOR H2AC18 FOS ESR1 AKT1
16 endometrial hyperplasia 30.5 PGR NCOA3 ESR2 ESR1 CYP19A1 AR
17 estrogen excess 30.5 PGR GPER1 ESR2 ESR1 CYP19A1
18 breast fibroadenoma 30.5 PGR LCOR ESR1 CYP19A1 AR
19 osteoporosis 30.5 PGR FOS ESR2 ESR1 CYP19A1 AR
20 serous cystadenocarcinoma 30.5 PGR ESR2 AKT1
21 cystadenocarcinoma 30.5 PGR ESR2 AKT1
22 endometriosis of ovary 30.5 PGR ESR2 ESR1 CYP19A1
23 estrogen-receptor positive breast cancer 30.4 PGR NCOA3 GPER1 ESR2 ESR1 CYP19A1
24 leiomyoma, uterine 30.4 PGR ESR2 ESR1 CYP19A1
25 leiomyoma 30.4 PGR ESR2 ESR1 CYP19A1
26 mammographic density 30.4 PGR ESR1 CYP19A1
27 hypertrophy of breast 30.4 PGR ESR1 CYP19A1
28 breast disease 30.4 PGR H2AC18 ESR2 ESR1 CYP19A1
29 ovarian serous cystadenocarcinoma 30.4 PGR ESR2 ESR1 AKT1
30 46,xy sex reversal 2 30.3 SPNS1 LCOR CYP19A1
31 cervical adenocarcinoma 30.3 PGR ESR1 AKT1
32 granulomatous endometritis 30.2 PGR ESR1
33 progesterone resistance 30.2 PGR ESR2 ESR1
34 alopecia, androgenetic, 1 30.2 CYP19A1 AR
35 vaginitis 30.2 ESR2 ESR1 AR
36 estrogen-receptor negative breast cancer 30.1 PGR GPER1 FOS ESR1 CYP19A1 AR
37 male infertility 30.1 ESR2 ESR1 CYP19A1 AR
38 suppression of tumorigenicity 12 30.1 H2AC18 ESR2 ESR1 AR AKT1
39 ovarian cancer 30.1 PGR NCOA3 H2AC18 GPER1 FOS ESRRA
40 leukemia, acute myeloid 30.1 LCOR H2AC18 FOS ESR1 AR AKT1
41 pelvic organ prolapse 30.1 PGR ESR2 ESR1
42 lobular neoplasia 30.1 PGR ESR2 ESR1 CYP19A1
43 gynecomastia 30.1 PGR GPER1 ESR2 ESR1 CYP19A1 AR
44 meningioma, familial 30.0 PGR H2AC18 ESR1 AKT1
45 ovary adenocarcinoma 30.0 PGR H2AC18 ESR1 AKT1
46 adenomyosis 30.0 PGR GPER1 ESR2 ESR1 CYP19A1
47 body mass index quantitative trait locus 11 29.9 PAGR1 NCOA3 LCOR H2AC18 FOS ESRRA
48 prostate cancer 29.8 PGR NCOA3 H2AC18 GPER1 FOS ESR2
49 wilms tumor 1 29.8 PGR H2AC18 ESR1 AR AKT1
50 pervasive developmental disorder 29.6 PAGR1 H2AC18 FOS AKT1

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:

56
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

UMLS symptoms related to Amelogenesis Imperfecta, Type Ig:


polyuria

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ig:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 AKT1 AR CYP19A1 ESR1 ESR2 ESRRG
2 endocrine/exocrine gland MP:0005379 10.1 AKT1 AR CYP19A1 ESR1 ESR2 FOS
3 adipose tissue MP:0005375 9.98 AKT1 AR CYP19A1 ESR1 ESR2 FOS
4 limbs/digits/tail MP:0005371 9.87 AR ESR1 ESR2 FAM20A FOS GPER1
5 liver/biliary system MP:0005370 9.8 AKT1 AR CYP19A1 ESR1 ESR2 GPER1
6 neoplasm MP:0002006 9.7 AKT1 AR ESR1 ESR2 FOS NCOA3
7 reproductive system MP:0005389 9.65 AKT1 AR CYP19A1 ESR1 ESR2 FOS
8 skeleton MP:0005390 9.32 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
Salivary Gland, Bone, Heart

Publications for Amelogenesis Imperfecta, Type Ig

Articles related to Amelogenesis Imperfecta, Type Ig:

(show all 36)
# Title Authors PMID Year
1
FAM20A mutations associated with enamel renal syndrome. 6 56 61
24196488 2014
2
FAM20A mutations can cause enamel-renal syndrome (ERS). 61 6 56
23468644 2013
3
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. 61 56 6
23434854 2012
4
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 6 56
21990045 2012
5
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. 56 6
21549343 2011
6
Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. 6 56
18597613 2008
7
Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature. 56
21212699 2011
8
Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family. 56
15721155 2005
9
Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. 56
12597691 2003
10
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. 56
9870488 1998
11
Amelogenesis imperfecta and nephrocalcinosis syndrome. Case studies of clinical features and ultrastructure of tooth enamel in two siblings. 56
7600222 1995
12
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 56
3150442 1988
13
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. 56
3872071 1985
14
Generalized enamel hypoplasia and renal dysfunction. 56
4504766 1972
15
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. 61
32246227 2020
16
Syndromes with gingival fibromatosis: A systematic review. 61
32335995 2020
17
Transcriptome analysis of gingival tissues of enamel-renal syndrome. 61
31131889 2019
18
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 61
30394349 2019
19
Association of enamel-renal syndrome with sialolith: A rare entity. 61
30967741 2019
20
Enamel renal gingival syndrome: A rare case report. 61
30692747 2019
21
Enamel-Renal-Syndrome: case report. 61
29672880 2018
22
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. 61
29439260 2018
23
Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome. 61
29166418 2018
24
Association of Amelogenesis Imperfecta and Bartter's Syndrome. 61
28904439 2017
25
Enamel-renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child. 61
27541981 2017
26
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. 61
28086997 2017
27
Enamel Renal Syndrome: A Case History Report. 61
28085972 2017
28
FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization? 61
28515694 2017
29
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. 61
26740946 2015
30
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. 61
26389061 2015
31
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations. 61
24927635 2014
32
Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review. 61
24960394 2014
33
Enamel-renal-gingival syndrome and FAM20A mutations. 61
24259279 2014
34
Enamel renal syndrome: a rare case report. 61
22918105 2012
35
Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome. 61
23341834 2012
36
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 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM20A NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)SNV Pathogenic 30879 rs144411158 17:66551883-66551883 17:68555742-68555742
2 FAM20A NM_017565.4(FAM20A):c.32_33CT[1] (p.Leu12fs)short repeat Pathogenic 35475 rs587776911 17:66596773-66596774 17:68600632-68600633
3 FAM20A NM_017565.4(FAM20A):c.813-2A>GSNV Pathogenic 35476 rs587776912 17:66538952-66538952 17:68542811-68542811
4 FAM20A NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs)deletion Pathogenic 35477 rs587776913 17:66537030-66537034 17:68540889-68540893
5 FAM20A NM_017565.4(FAM20A):c.590-2A>GSNV Pathogenic 35478 rs587776914 17:66550970-66550970 17:68554829-68554829
6 FAM20A NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter)SNV Pathogenic 35479 rs387907215 17:66538937-66538937 17:68542796-68542796
7 FAM20A NM_017565.4(FAM20A):c.720-2A>GSNV Pathogenic 139648 rs587777530 17:66539864-66539864 17:68543723-68543723
8 FAM20A NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter)SNV Pathogenic 139649 rs139620139 17:66533812-66533812 17:68537671-68537671
9 FAM20A NM_017565.4(FAM20A):c.612del (p.Leu205fs)deletion Pathogenic 139650 rs587777531 17:66550946-66550946 17:68554805-68554805
10 FAM20A NM_017565.4(FAM20A):c.885del (p.Thr296fs)deletion Likely pathogenic 587516 rs1568724130 17:66538878-66538878 17:68542737-68542737
11 FAM20A NM_017565.4(FAM20A):c.1219+3_1219+6delshort repeat Likely pathogenic 873033 17:66536984-66536987 17:68540843-68540846

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

73
# 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 12.76 NCOA3 FOS ESR2 ESR1 AR AKT1
3
Show member pathways
12.67 PGR NCOA3 FOS ESR2 ESR1 AKT1
4
Show member pathways
12.59 NCOA3 GPER1 FOS ESR2 ESR1 AKT1
5
Show member pathways
12.57 PGR NCOA3 GPER1 FOS ESR2 ESR1
6
Show member pathways
12.38 FOS ESR2 ESR1 AKT1
7
Show member pathways
12.24 NCOA3 ESR2 ESR1 AKT1
8
Show member pathways
12.12 PGR NCOA3 FOS ESR1
9 12.06 NCOA3 ESR1 CYP19A1 AR AKT1
10 11.78 FOS ESR2 ESR1 AR AKT1
11 11.76 NCOA3 AR AKT1
12 11.68 FOS ESR1 AR AKT1
13
Show member pathways
11.64 NCOA3 FOS ESR1
14 11.6 FOS ESR1 AKT1
15 11.58 GPER1 ESR2 AKT1
16 11.52 PELP1 AR AKT1
17
Show member pathways
11.42 NCOA3 FOS ESR1 AR
18 11.4 FOS CYP19A1 AR
19 11.23 PGR ESR2 CYP19A1
20 11.16 FOS ESR2 ESR1
21 11.08 PELP1 ESR2 ESR1 AKT1
22
Show member pathways
11.05 PGR ESRRG ESRRA ESR2 ESR1 AR
23 10.92 PELP1 FOS ESR2 ESR1
24 10.82 GPER1 FOS ESR1 AKT1
25 10.51 PELP1 FOS AR AKT1
26 10.1 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 10.06 PGR PELP1 PAGR1 NME2 NCOA3 MIER1
2 nucleoplasm GO:0005654 10.03 PGR PELP1 NCOA3 MIER1 LCOR FOS
3 nuclear chromatin GO:0000790 9.61 PGR NCOA3 H2AC18 FOS ESRRG ESRRA
4 host cell nucleus GO:0042025 9.1 PGR ESRRG ESRRA ESR2 ESR1 AR

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.97 PGR NCOA3 MIER1 FOS ESRRG ESRRA
2 positive regulation of transcription, DNA-templated GO:0045893 9.81 NME2 NCOA3 FOS ESRRG ESRRA ESR2
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.73 PGR ESRRG ESRRA ESR2 ESR1 AR
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 PGR PELP1 PAGR1 NME2 NCOA3 GPER1
5 intracellular receptor signaling pathway GO:0030522 9.61 ESRRA ESR1 AR
6 cellular response to estradiol stimulus GO:0071392 9.58 NCOA3 GPER1 ESR1
7 cellular response to estrogen stimulus GO:0071391 9.56 PELP1 ESR1
8 response to growth hormone GO:0060416 9.55 NME2 AKT1
9 positive regulation of intracellular estrogen receptor signaling pathway GO:0033148 9.54 PAGR1 AR
10 CTP biosynthetic process GO:0006241 9.52 NME2 NME1-NME2
11 GTP biosynthetic process GO:0006183 9.51 NME2 NME1-NME2
12 UTP biosynthetic process GO:0006228 9.49 NME2 NME1-NME2
13 prostate gland growth GO:0060736 9.48 CYP19A1 AR
14 intracellular steroid hormone receptor signaling pathway GO:0030518 9.46 GPER1 ESR1
15 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.37 PGR AR
16 steroid hormone mediated signaling pathway GO:0043401 9.1 PGR GPER1 ESRRG ESRRA ESR1 AR

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.14 PGR NME2 MIER1 LCOR H2AC18 FOS
2 DNA-binding transcription factor activity GO:0003700 10.05 PGR FOS ESRRG ESRRA ESR2 ESR1
3 zinc ion binding GO:0008270 10.03 PGR ESRRG ESRRA ESR2 ESR1 AR
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.02 PGR NCOA3 MIER1 LCOR FOS ESRRG
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10 PGR FOS ESRRA ESR2 ESR1 AR
6 sequence-specific DNA binding GO:0043565 10 PGR FOS ESRRG ESRRA ESR2 ESR1
7 chromatin binding GO:0003682 9.95 PELP1 GPER1 FOS ESR1 AR
8 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.95 PGR FOS ESRRG ESRRA ESR1 AR
9 enzyme binding GO:0019899 9.91 PGR NME2 ESR2 ESR1 AR AKT1
10 ATPase binding GO:0051117 9.74 PGR ESR1 AR
11 repressing transcription factor binding GO:0070491 9.73 PGR ESRRG ESRRA ESR2 ESR1 AR
12 nuclear receptor activity GO:0004879 9.63 PGR ESRRG ESRRA ESR2 ESR1 AR
13 nitric-oxide synthase regulator activity GO:0030235 9.54 ESR1 AKT1
14 estrogen receptor activity GO:0030284 9.54 GPER1 ESR2 ESR1
15 steroid hormone receptor activity GO:0003707 9.5 PGR GPER1 ESRRG ESRRA ESR2 ESR1
16 estrogen response element binding GO:0034056 9.49 ESR2 ESR1
17 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
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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