Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal nipple morphology
go back to main search page
Accession:HP:0004404 term browser browse the term
Definition:An abnormality of the nipple.
Synonyms:exact_synonym: Abnormality of the nipple
 xref: SNOMEDCT_US:700153004;   UMLS:C3839073

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
Absent nipple term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G H EDA ectodysplasin A IAGP HPO OMIM:305100 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G H EDARADD EDAR associated via death domain IAGP HPO OMIM:614940 OMIM:614941 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G H FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G H KMT2D lysine methyltransferase 2D IAGP HPO OMIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G H PTPRF protein tyrosine phosphatase receptor type F IAGP HPO OMIM:616001 NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666 		JBrowse link
G H RSPO2 R-spondin 2 IAGP HPO OMIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G H SLC25A24 solute carrier family 25 member 24 IAGP HPO OMIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G H TP63 tumor protein p63 IAGP HPO OMIM:103285 ORPHA:69085 ORPHA:978 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G H TWIST2 twist family bHLH transcription factor 2 IAGP HPO OMIM:209885 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
Aplasia/Hypoplasia of the nipples term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G H CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G H CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G H DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G H EFNB1 ephrin B1 IAGP HPO ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G H FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G H KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 ORPHA:2036 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G H LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G H NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G H NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G H PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G H PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G H PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G H RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G H TP63 tumor protein p63 IAGP HPO ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G H TWIST2 twist family bHLH transcription factor 2 IAGP HPO ORPHA:920 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G H VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G H VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G H WASHC5 WASH complex subunit 5 IAGP HPO ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G H WNT3 Wnt family member 3 IAGP HPO ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
Hypoplastic nipples term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G H ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO OMIM:230740 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G H BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G H CCDC47 coiled-coil domain containing 47 IAGP HPO OMIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G H CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:265000 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G H DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G H EDA ectodysplasin A IAGP HPO OMIM:305100 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G H EDARADD EDAR associated via death domain IAGP HPO OMIM:614941 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915 		JBrowse link
G H FAT4 FAT atypical cadherin 4 IAGP HPO OMIM:615546 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G H FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G H GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO OMIM:269921 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G H HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G H IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G H KDM6B lysine demethylase 6B IAGP HPO OMIM:618505 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796 		JBrowse link
G H KIF15 kinesin family member 15 IAGP HPO ORPHA:261323 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G H KMT2D lysine methyltransferase 2D IAGP HPO OMIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G H KRT10 keratin 10 IAGP HPO OMIM:609165 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614 		JBrowse link
G H MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G H MEGF8 multiple EGF like domains 8 IAGP HPO OMIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G H MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:79329 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G H NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G H PEX2 peroxisomal biogenesis factor 2 IAGP HPO OMIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G H PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G H PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G H PTPRF protein tyrosine phosphatase receptor type F IAGP HPO OMIM:616001 NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666 		JBrowse link
G H RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G H RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G H SETBP1 SET binding protein 1 IAGP HPO OMIM:269150 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G H SLC25A24 solute carrier family 25 member 24 IAGP HPO OMIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G H SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G H SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G H TBX3 T-box transcription factor 3 IAGP HPO OMIM:181450 ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G H TP63 tumor protein p63 IAGP HPO OMIM:103285 OMIM:603543 OMIM:604292 ORPHA:69085 ORPHA:978 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G H TUBB tubulin beta class I IAGP HPO OMIM:156610 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G H TWIST2 twist family bHLH transcription factor 2 IAGP HPO OMIM:200110 OMIM:209885 ORPHA:1231 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G H UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO OMIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G H USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G H WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Inverted nipples term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ACOX1 acyl-CoA oxidase 1 IAGP HPO OMIM:264470 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
G H ALG11 ALG11 alpha-1,2-mannosyltransferase IAGP HPO OMIM:613661 ORPHA:280071 NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232 		JBrowse link
G H ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO OMIM:607143 ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G H ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G H ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G H ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G H ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO OMIM:608776 ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G H ATN1 atrophin 1 IAGP HPO OMIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G H B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356 		JBrowse link
G H BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G H C18orf32 chromosome 18 open reading frame 32 IAGP HPO OMIM:619985 NCBI chr18:49,477,243...49,487,234
Ensembl chr18:49,477,243...49,487,252 		JBrowse link
G H CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO OMIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G H COG7 component of oligomeric golgi complex 7 IAGP HPO OMIM:608779 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G H DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO OMIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G H DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G H DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO OMIM:608093 ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G H DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G H EBF3 EBF transcription factor 3 IAGP HPO OMIM:617330 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G H EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO OMIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897 		JBrowse link
G H EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO OMIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321 		JBrowse link
G H HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G H INTU inturned planar cell polarity protein IAGP HPO OMIM:617926 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G H JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G H KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G H KMT2B lysine methyltransferase 2B IAGP HPO OMIM:619934 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G H LBR lamin B receptor IAGP HPO OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G H MAN1B1 mannosidase alpha class 1B member 1 IAGP HPO OMIM:614202 ORPHA:397941 NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G H MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G H MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:79329 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G H NFIX nuclear factor I X IAGP HPO ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G H PEX3 peroxisomal biogenesis factor 3 IAGP HPO OMIM:617370 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G H PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO OMIM:615398 ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G H PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G H RERE arginine-glutamic acid dipeptide repeats IAGP HPO OMIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G H RFT1 RFT1 homolog IAGP HPO OMIM:612015 ORPHA:244310 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453 		JBrowse link
G H RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G H SET SET nuclear proto-oncogene IAGP HPO OMIM:618106 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
G H SLC25A46 solute carrier family 25 member 46 IAGP HPO OMIM:616505 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G H SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G H SOX6 SRY-box transcription factor 6 IAGP HPO OMIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591 		JBrowse link
G H SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO OMIM:612379 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100 		JBrowse link
G H STT3A STT3 oligosaccharyltransferase complex catalytic subunit A IAGP HPO OMIM:619714 NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215 		JBrowse link
G H TBX3 T-box transcription factor 3 IAGP HPO OMIM:181450 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175 		JBrowse link
G H TCF20 transcription factor 20 IAGP HPO OMIM:618430 NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616 		JBrowse link
G H TRAF7 TNF receptor associated factor 7 IAGP HPO OMIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G H TWIST2 twist family bHLH transcription factor 2 IAGP HPO OMIM:209885 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534 		JBrowse link
G H WAC WW domain containing adaptor with coiled-coil IAGP HPO OMIM:616708 ORPHA:466950 NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
G H WASF1 WASP family member 1 IAGP HPO OMIM:618707 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004 		JBrowse link
Low-set nipples term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G H CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G H ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G H ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G H FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Low-set nipples ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G H GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G H GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G H H3-3A H3.3 histone A IAGP HPO OMIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G H MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G H PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G H RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G H TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
Prominent nipples term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H INSR insulin receptor IAGP HPO OMIM:246200 ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G H RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO OMIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
Supernumerary nipple term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ACTB actin beta IAGP HPO ORPHA:64755 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G H ARHGAP31 Rho GTPase activating protein 31 IAGP HPO OMIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G H ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G H ASXL3 ASXL transcriptional regulator 3 IAGP HPO OMIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G H CDH2 cadherin 2 IAGP HPO OMIM:618929 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G H CHAMP1 chromosome alignment maintaining phosphoprotein 1 IAGP HPO OMIM:616579 NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626 		JBrowse link
G H CKAP2L cytoskeleton associated protein 2 like IAGP HPO ORPHA:3255 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664 		JBrowse link
G H COLEC10 collectin subfamily member 10 IAGP HPO ORPHA:293843 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G H COLEC11 collectin subfamily member 11 IAGP HPO ORPHA:293843 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G H CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G H DDX6 DEAD-box helicase 6 IAGP HPO OMIM:618653 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G H DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO OMIM:263750 ORPHA:246 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G H GDF11 growth differentiation factor 11 IAGP HPO OMIM:619122 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264 		JBrowse link
G H GPC3 glypican 3 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G H GPC4 glypican 4 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G H H4C9 H4 clustered histone 9 IAGP HPO OMIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678 		JBrowse link
G H HDAC4 histone deacetylase 4 IAGP HPO ORPHA:1001 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G H HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G H HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G H IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO OMIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G H JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G H KDM1A lysine demethylase 1A IAGP HPO OMIM:616728 ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G H KDM5B lysine demethylase 5B IAGP HPO OMIM:618109 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G H KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G H KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:600268 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G H MASP1 MBL associated serine protease 1 IAGP HPO OMIM:257920 ORPHA:293843 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G H MDH2 malate dehydrogenase 2 IAGP HPO OMIM:617339 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G H MEGF8 multiple EGF like domains 8 IAGP HPO OMIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G H NONO non-POU domain containing octamer binding IAGP HPO ORPHA:466791 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G H PGAP2 post-GPI attachment to proteins 2 IAGP HPO ORPHA:247262 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G H PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO ORPHA:247262 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G H PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:247262 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G H PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO ORPHA:247262 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619 		JBrowse link
G H PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO ORPHA:247262 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G H PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP HPO ORPHA:247262 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G H PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO ORPHA:247262 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G H PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:1173 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G H PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G H PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO ORPHA:457279 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G H RNF216 ring finger protein 216 IAGP HPO ORPHA:1173 NCBI chr 7:5,620,047...5,781,663
Ensembl chr 7:5,620,047...5,781,696 		JBrowse link
G H STAG1 STAG1 cohesin complex component IAGP HPO OMIM:617635 NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403 		JBrowse link
G H TCF4 transcription factor 4 IAGP HPO OMIM:610954 ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G H TFAP2A transcription factor AP-2 alpha IAGP HPO OMIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G H TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G H TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO OMIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G H TNRC6B trinucleotide repeat containing adaptor 6B IAGP HPO OMIM:619243 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		JBrowse link
G H TP63 tumor protein p63 IAGP HPO OMIM:106260 OMIM:129400 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G H TRRAP transformation/transcription domain associated protein IAGP HPO OMIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G H UBA2 ubiquitin like modifier activating enzyme 2 IAGP HPO OMIM:619959 NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251 		JBrowse link
G H WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G H ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G H ZMYND11 zinc finger MYND-type containing 11 IAGP HPO OMIM:616083 NCBI chr10:130,088...254,637
Ensembl chr10:130,088...254,637 		JBrowse link
Wide intermamillary distance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO OMIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G H ADNP activity dependent neuroprotector homeobox IAGP HPO ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G H ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO OMIM:619036 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G H ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO OMIM:608776 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G H AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G H AMMECR1 AMMECR nuclear protein 1 IAGP HPO OMIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G H ARCN1 archain 1 IAGP HPO OMIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G H ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 IAGP HPO OMIM:617523 NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070 		JBrowse link
G H ASH1L ASH1 like histone lysine methyltransferase IAGP HPO OMIM:617796 NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162 		JBrowse link
G H ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G H B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G H BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Widely-spaced nipples ClinVar
HPO		 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... OMIM:163950 OMIM:613707 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G H CBL Cbl proto-oncogene IAGP HPO OMIM:613563 ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G H CDH11 cadherin 11 IAGP HPO OMIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G H CDK13 cyclin dependent kinase 13 IAGP HPO OMIM:617360 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G H CERT1 ceramide transporter 1 IAGP HPO OMIM:616351 NCBI chr 5:75,368,486...75,511,981
Ensembl chr 5:75,356,345...75,512,138 		JBrowse link
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:432 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G H CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G H CILK1 ciliogenesis associated kinase 1 IAGP HPO OMIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G H COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G H COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:300887 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G H CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G H CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G H DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G H DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G H DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G H EED embryonic ectoderm development IAGP HPO OMIM:617561 NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813 		JBrowse link
G H ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:214150 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G H ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:75857 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G H EXOC2 exocyst complex component 2 IAGP HPO OMIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
G H FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G H FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:432 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G H FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:432 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G H FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO OMIM:219000 ORPHA:2052 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G H FREM2 FRAS1 related extracellular matrix 2 IAGP HPO ORPHA:2052 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131 		JBrowse link
G H GATA4 GATA binding protein 4 IAGP HPO ORPHA:251071 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G H GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G H GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G H GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G H GPC3 glypican 3 IAGP HPO OMIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G H GPC4 glypican 4 IAGP HPO OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G H GRIP1 glutamate receptor interacting protein 1 IAGP HPO ORPHA:2052 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G H HDAC4 histone deacetylase 4 IAGP HPO ORPHA:1001 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654 		JBrowse link
G H HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G H HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:432 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G H IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO OMIM:615330 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		JBrowse link
G H IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G H IGF1R insulin like growth factor 1 receptor IAGP HPO OMIM:270450 ORPHA:73273 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G H INTU inturned planar cell polarity protein IAGP HPO OMIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G H KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G H KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G H KATNB1 katanin regulatory subunit B1 IAGP HPO OMIM:616212 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G H KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G H KIFBP kinesin family binding protein IAGP HPO OMIM:609460 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G H KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G H KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G H KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G H KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G H LAMA5 laminin subunit alpha 5 IAGP HPO OMIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G H LBR lamin B receptor IAGP HPO OMIM:618019 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G H LZTR1 leucine zipper like post translational regulator 1 IAGP HPO OMIM:605275 ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G H MAB21L1 mab-21 like 1 IAGP HPO OMIM:618479 NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764 		JBrowse link
G H MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G H MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G H MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO OMIM:616734 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G H MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G H MEGF8 multiple EGF like domains 8 IAGP HPO OMIM:614976 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G H MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO OMIM:212066 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G H MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G H MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G H MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G H MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G H MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G H MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G H MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G H MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G H MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G H MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G H MT-ND4L mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766 		JBrowse link
G H MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G H MT-TA mitochondrially encoded tRNA-Ala (GCN) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,587...5,655
Ensembl chr MT:5,587...5,655 		JBrowse link
G H MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G H MT-TD mitochondrially encoded tRNA-Asp (GAU/C) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,518...7,585
Ensembl chr MT:7,518...7,585 		JBrowse link
G H MT-TG mitochondrially encoded tRNA-Gly (GGN) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058 		JBrowse link
G H MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G H MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331 		JBrowse link
G H MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G H MT-TM mitochondrially encoded tRNA-Met (AUA/G) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,402...4,469
Ensembl chr MT:4,402...4,469 		JBrowse link
G H MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G H MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G H MT-TR mitochondrially encoded tRNA-Arg (CGN) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,405...10,469
Ensembl chr MT:10,405...10,469 		JBrowse link
G H MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G H MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G H MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G H MT-TY mitochondrially encoded tRNA-Tyr (UAU/C) IAGP ClinVar Annotator: match by term: Wide intermamillary distance ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891 		JBrowse link
G H NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G H NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G H NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G H NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G H NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:619695 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G H NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G H NUP188 nucleoporin 188 IAGP HPO OMIM:618804 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G H PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO OMIM:615009 ORPHA:329224 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G H PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP ClinVar Annotator: match by term: Widely-spaced nipples
ClinVar Annotator: match by term: Wide intermamillary distance		 ClinVar PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G H PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G H PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G H PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO OMIM:617506 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G H PROK2 prokineticin 2 IAGP HPO ORPHA:432 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G H PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:432 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G H PSAT1 phosphoserine aminotransferase 1 IAGP HPO OMIM:616038 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:163950 ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G H RAB18 RAB18, member RAS oncogene family IAGP HPO OMIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207 		JBrowse link
G H RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G H RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G H RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G H RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G H RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G H RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G H RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G H SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO ORPHA:3051 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G H SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO OMIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G H SMS spermine synthase IAGP HPO OMIM:309583 ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G H SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO OMIM:610733 ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G H SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G H SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G H SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G H SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682 		JBrowse link
G H TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H TAF4 TATA-box binding protein associated factor 4 IAGP HPO OMIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G H TBL1XR1 TBL1X/Y related 1 IAGP HPO OMIM:602342 ORPHA:487825 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G H TFAP2A transcription factor AP-2 alpha IAGP HPO OMIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G H TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO OMIM:617698 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G H TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO OMIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G H TMEM94 transmembrane protein 94 IAGP HPO OMIM:618316 NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452 		JBrowse link
G H TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO OMIM:619185 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G H TP63 tumor protein p63 IAGP HPO OMIM:103285 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G H TRAF7 TNF receptor associated factor 7 IAGP HPO OMIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G H TTC5 tetratricopeptide repeat domain 5 IAGP HPO OMIM:619244 NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960 		JBrowse link
G H TUBB tubulin beta class I IAGP HPO OMIM:156610 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G H UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO OMIM:300860 ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		JBrowse link
G H WASF1 WASP family member 1 IAGP HPO OMIM:618707 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004 		JBrowse link
G H WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G H WDR37 WD repeat domain 37 IAGP HPO OMIM:618652 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		JBrowse link
G H WLS Wnt ligand secretion mediator IAGP HPO OMIM:619648 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
G H ZC4H2 zinc finger C4H2-type containing IAGP HPO OMIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G H ZNF148 zinc finger protein 148 IAGP HPO OMIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the breast 612
        Abnormal breast morphology 606
          Abnormal nipple morphology 274
            Abnormal intermamillary distance + 149
            Aplasia/Hypoplasia of the nipples + 55
            Dry nipple 0
            High-set nipples 0
            Inverted nipples 48
            Low-set nipples 13
            Nipple epidermal Paget cells 0
            Nipple thickening 0
            Prominent nipples 2
            Supernumerary nipple 52
paths to the root