Term: | Abnormality of the abdominal organs |
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Accession: | HP:0002012
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browse the term
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Definition: | An abnormality of the viscera of the abdomen. |
Comment: | The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. |
Synonyms: | exact_synonym: | Gastrointestinal tract defects |
| xref: | UMLS:C4021764 |
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:79401 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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CIROP |
ciliated left-right organizer metallopeptidase |
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IAGP |
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HPO |
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MIM:619702 |
NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989
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DAW1 |
dynein assembly factor with WD repeats 1 |
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IAGP |
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HPO |
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MIM:620570 |
NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344
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DNAAF5 |
dynein axonemal assembly factor 5 |
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IAGP |
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HPO |
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MIM:614874 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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GDF1 |
growth differentiation factor 1 |
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IAGP |
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HPO |
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MIM:208530 |
NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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MIM:270100 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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ODAD4 |
outer dynein arm docking complex subunit 4 |
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IAGP |
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HPO |
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MIM:617092 |
NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
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SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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MIM:619657 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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ACTG2 |
actin gamma 2, smooth muscle |
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IAGP |
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HPO |
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ORPHA:2604 |
NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
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CCDC32 |
coiled-coil domain containing 32 |
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IAGP |
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HPO |
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MIM:619123 |
NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
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CFAP52 |
cilia and flagella associated protein 52 |
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IAGP |
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HPO |
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MIM:619607 |
NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447
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CFAP53 |
cilia and flagella associated protein 53 |
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IAGP |
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HPO |
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MIM:614779 |
NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495
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CFC1 |
cryptic, EGF-CFC family member 1 |
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IAGP |
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HPO |
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MIM:605376 |
NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
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CHD6 |
chromodomain helicase DNA binding protein 6 |
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IAGP |
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HPO |
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ORPHA:2108 |
NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
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CLXN |
calaxin |
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IAGP |
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HPO |
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MIM:620642 |
NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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DAW1 |
dynein assembly factor with WD repeats 1 |
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IAGP |
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HPO |
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MIM:620570 |
NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344
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DNAH7 |
dynein axonemal heavy chain 7 |
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IAGP |
ClinVar Annotator: match by term: Abdominal situs inversus ClinVar Annotator: match by term: Situs inversus viscerum |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837
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FOXJ1 |
forkhead box J1 |
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IAGP |
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HPO |
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MIM:618699 |
NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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NODAL |
nodal growth differentiation factor |
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IAGP |
ClinVar Annotator: match by term: Situs inversus viscerum |
ClinVar HPO |
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MIM:270100 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PKD1L1 |
polycystin 1 like 1, transient receptor potential channel interacting |
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IAGP |
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HPO |
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MIM:617205 |
NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466
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TBX5 |
T-box transcription factor 5 |
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IAGP |
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HPO |
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MIM:142900 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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ZIC3 |
Zic family member 3 |
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IAGP |
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HPO |
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MIM:306955 |
NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
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CFTR |
CF transmembrane conductance regulator |
susceptibility |
IAGP |
associated with inflammatory bowel disease; DNA:misense mutations:multiple |
RGD |
PMID:12783301 |
RGD:25671445 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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GCGR |
glucagon receptor |
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IAGP |
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HPO |
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ORPHA:438274 |
NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008
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GPR35 |
G protein-coupled receptor 35 |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
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MST1 |
macrophage stimulating 1 |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
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NPHP3 |
nephrocystin 3 |
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IAGP |
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HPO |
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ORPHA:3032 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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RNF43 |
ring finger protein 43 |
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IAGP |
increased tumor/neoplasm size;DNA:insertions, nonsense mutations, missense mutation:CDS:multiple |
RGD |
PMID:27864998 |
RGD:151361215 |
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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SEMA4D |
semaphorin 4D |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
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TCF4 |
transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
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PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
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HPO |
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ORPHA:436252 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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TTC7A |
tetratricopeptide repeat domain 7A |
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IAGP |
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HPO |
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ORPHA:436252 |
NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
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KEAP1 |
kelch like ECH associated protein 1 |
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IAGP |
DNA:missense mutations, frameshift mutations:cds:multiple |
RGD |
PMID:18692501 |
RGD:6893398 |
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
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FOCAD |
focadhesin |
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IAGP |
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HPO |
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MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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SLC2A2 |
solute carrier family 2 member 2 |
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IAGP |
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HPO |
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ORPHA:2088 |
NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
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PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
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IAGP |
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HPO |
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MIM:300868 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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AKR1D1 |
aldo-keto reductase family 1 member D1 |
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IAGP |
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HPO |
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ORPHA:79303 |
NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305
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DZIP1L |
DAZ interacting zinc finger protein 1 like |
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IAGP |
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HPO |
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ORPHA:731 |
NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
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IL12A |
interleukin 12A |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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IL12RB1 |
interleukin 12 receptor subunit beta 1 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
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IRF5 |
interferon regulatory factor 5 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:363618 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LOC126859690 |
MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 |
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IAGP |
ClinVar Annotator: match by term: Abnormal intrahepatic bile duct morphology |
ClinVar |
PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 PMID:19914852 PMID:20413436 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:29068549 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 More...
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NCBI chr 6:52,024,050...52,025,249
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MMEL1 |
membrane metalloendopeptidase like 1 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
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PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the intrahepatic bile duct ClinVar Annotator: match by term: Abnormal intrahepatic bile duct morphology |
ClinVar HPO |
PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 PMID:19914852 PMID:19940839 PMID:20413436 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:29068549 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33532864 More...
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ORPHA:731 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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POU2AF1 |
POU class 2 homeobox associating factor 1 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
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SPIB |
Spi-B transcription factor |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
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TNFSF15 |
TNF superfamily member 15 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
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TNPO3 |
transportin 3 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
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BMPER |
BMP binding endothelial regulator |
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IAGP |
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HPO |
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MIM:608022 |
NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427
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BTNL2 |
butyrophilin like 2 |
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IAGP |
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HPO |
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ORPHA:797 |
NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
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HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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IAGP |
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HPO |
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ORPHA:797 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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NPHP3 |
nephrocystin 3 |
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IAGP |
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HPO |
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ORPHA:3032 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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ORPHA:79318 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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PTRH2 |
peptidyl-tRNA hydrolase 2 |
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IAGP |
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HPO |
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ORPHA:456312 |
NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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ORPHA:64 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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HFE |
homeostatic iron regulator |
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IAGP |
associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y |
RGD |
PMID:20019189 |
RGD:2317357 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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PPARGC1A |
PPARG coactivator 1 alpha |
susceptibility |
IAGP |
associated with Obesity;DNA:missense mutation:cds:p.G482S (rs8192678) |
RGD |
PMID:23269818 |
RGD:7241847 |
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
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HPO |
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ORPHA:2953 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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CISD2 |
CDGSH iron sulfur domain 2 |
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IAGP |
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HPO |
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ORPHA:3463 |
NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
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DSE |
dermatan sulfate epimerase |
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IAGP |
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HPO |
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ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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WFS1 |
wolframin ER transmembrane glycoprotein |
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IAGP |
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HPO |
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ORPHA:3463 |
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
DNA:missense mutation:cds:p.E17K |
RGD |
PMID:24132918 |
RGD:13462042 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
DNA:missense mutation, gene fusions:multiple |
RGD |
PMID:25266736 |
RGD:13462041 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CASP9 |
caspase 9 |
susceptibility |
IAGP |
DNA:snp:promoter:g.-1263A>G |
RGD |
PMID:20357690 |
RGD:13451540 |
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CCND1 |
cyclin D1 |
severity |
IAGP |
DNA:snp:exon:c.870G>A |
RGD |
PMID:25470788 |
RGD:13462050 |
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CP |
ceruloplasmin |
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IAGP |
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HPO |
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ORPHA:48818 |
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
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IAGP |
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HPO |
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ORPHA:2849 |
NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
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CTRC |
chymotrypsin C |
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IAGP |
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HPO |
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ORPHA:103918 |
NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
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FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:1190 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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SPINK1 |
serine peptidase inhibitor Kazal type 1 |
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IAGP |
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HPO |
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ORPHA:103918 |
NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
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BCL2 |
BCL2 apoptosis regulator |
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IAGP |
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HPO |
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ORPHA:545 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BCL6 |
BCL6 transcription repressor |
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IAGP |
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HPO |
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ORPHA:545 |
NCBI chr 3:187,721,377...187,745,468
Ensembl chr 3:187,721,377...187,745,725
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ELP1 |
elongator acetyltransferase complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:1764 |
NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
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EWSR1 |
EWS RNA binding protein 1 |
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IAGP |
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HPO |
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ORPHA:83469 |
NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525
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G |
HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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IAGP |
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HPO |
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ORPHA:545 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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G |
IGH |
immunoglobulin heavy locus |
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IAGP |
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HPO |
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ORPHA:545 |
NCBI chr14:105,586,437...106,879,844
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G |
NAB2 |
NGFI-A binding protein 2 |
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IAGP |
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HPO |
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ORPHA:2126 |
NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476
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G |
STAT6 |
signal transducer and activator of transcription 6 |
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IAGP |
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HPO |
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ORPHA:2126 |
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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G |
WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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ORPHA:83469 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
GSN |
gelsolin |
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IAGP |
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HPO |
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ORPHA:85448 |
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
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G |
RARB |
retinoic acid receptor beta |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
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G |
STRA6 |
signaling receptor and transporter of retinol STRA6 |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
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G |
WNT7B |
Wnt family member 7B |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162
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G |
ZNF699 |
zinc finger protein 699 |
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IAGP |
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HPO |
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MIM:619488 |
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
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G |
PKD1L1 |
polycystin 1 like 1, transient receptor potential channel interacting |
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IAGP |
DNA:polymorphisms:cds: |
RGD |
PMID:30664273 |
RGD:155630603 |
NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466
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HAMP |
hepcidin antimicrobial peptide |
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IAGP |
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HPO |
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ORPHA:79230 |
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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G |
HJV |
hemojuvelin BMP co-receptor |
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IAGP |
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HPO |
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ORPHA:79230 |
NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746
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G |
HNF1B |
HNF1 homeobox B |
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IAGP |
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HPO |
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ORPHA:93111 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
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CFTR |
CF transmembrane conductance regulator |
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IAGP |
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HPO |
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MIM:211400 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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G |
HNF1B |
HNF1 homeobox B |
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IAGP |
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HPO |
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ORPHA:93111 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
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G |
SCNN1A |
sodium channel epithelial 1 subunit alpha |
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IAGP |
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HPO |
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MIM:613021 |
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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G |
SCNN1B |
sodium channel epithelial 1 subunit beta |
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IAGP |
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HPO |
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MIM:211400 |
NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:276152 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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G |
DCDC2 |
doublecortin domain containing 2 |
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IAGP |
DNA:missense mutation, deletion:cds:p.K17N, p.F142_R186del |
RGD |
PMID:27319779 |
RGD:11568452 |
NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
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G |
CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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G |
CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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G |
DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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G |
FUCA1 |
alpha-L-fucosidase 1 |
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IAGP |
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HPO |
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ORPHA:349 |
NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
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G |
HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G |
NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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G |
PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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ORPHA:2869 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
CORIN |
corin, serine peptidase |
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IAGP |
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HPO |
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ORPHA:275555 |
NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
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G |
FLT1 |
fms related receptor tyrosine kinase 1 |
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IAGP |
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HPO |
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ORPHA:275555 |
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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G |
STOX1 |
storkhead box 1 |
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IAGP |
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HPO |
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ORPHA:275555 |
NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
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G |
TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:247691 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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G |
ABCC2 |
ATP binding cassette subfamily C member 2 |
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IAGP |
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HPO |
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ORPHA:234 |
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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G |
AHCY |
adenosylhomocysteinase |
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IAGP |
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HPO |
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ORPHA:88618 |
NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
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G |
ALG6 |
ALG6 alpha-1,3-glucosyltransferase |
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IAGP |
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HPO |
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ORPHA:79320 |
NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553
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G |
AMACR |
alpha-methylacyl-CoA racemase |
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IAGP |
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HPO |
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MIM:614307 |
NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
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G |
BCHE |
butyrylcholinesterase |
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IAGP |
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HPO |
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ORPHA:132 |
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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G |
CASZ1 |
castor zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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G |
CD19 |
CD19 molecule |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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G |
CD81 |
CD81 molecule |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
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G |
CEACAM3 |
CEA cell adhesion molecule 3 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554
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G |
CEACAM6 |
CEA cell adhesion molecule 6 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211
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G |
CEP120 |
centrosomal protein 120 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
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G |
CFTR |
CF transmembrane conductance regulator |
susceptibility |
IAGP |
associated with inflammatory bowel disease; DNA:misense mutations:multiple |
HPO RGD |
PMID:12783301 |
ORPHA:586, RGD:25671445 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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G |
CLCA4 |
chloride channel accessory 4 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 1:86,547,078...86,580,754
Ensembl chr 1:86,547,078...86,580,754
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G |
CR2 |
complement C3d receptor 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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G |
DCTN4 |
dynactin subunit 4 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,706,840...150,759,095
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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G |
DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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G |
DYNC2I2 |
dynein 2 intermediate chain 2 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
EDNRA |
endothelin receptor type A |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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G |
EIF2AK3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
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IAGP |
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HPO |
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ORPHA:1667 |
NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
FANCA |
FA complementation group A |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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G |
FANCB |
FA complementation group B |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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G |
FANCC |
FA complementation group C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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G |
FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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G |
FANCE |
FA complementation group E |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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G |
FANCF |
FA complementation group F |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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G |
FANCG |
FA complementation group G |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
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G |
FANCI |
FA complementation group I |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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G |
FANCL |
FA complementation group L |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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G |
FANCM |
FA complementation group M |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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G |
GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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G |
GCLC |
glutamate-cysteine ligase catalytic subunit |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
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G |
GSTM3 |
glutathione S-transferase mu 3 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038
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G |
HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:231222 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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G |
HFE |
homeostatic iron regulator |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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G |
HMOX1 |
heme oxygenase 1 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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G |
HSD17B10 |
hydroxysteroid 17-beta dehydrogenase 10 |
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IAGP |
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HPO |
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ORPHA:391457 |
NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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G |
ICOS |
inducible T cell costimulator |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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G |
IFT80 |
intraflagellar transport 80 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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G |
IRF2BP2 |
interferon regulatory factor 2 binding protein 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178
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G |
JAM2 |
junctional adhesion molecule 2 |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
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G |
KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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G |
KCNN4 |
potassium calcium-activated channel subfamily N member 4 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976
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G |
KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
LUZP1 |
leucine zipper protein 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
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MIF |
macrophage migration inhibitory factor |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MMP23B |
matrix metallopeptidase 23B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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MS4A1 |
membrane spanning 4-domains A1 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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MT-TE |
mitochondrially encoded tRNA-Glu (GAA/G) |
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IAGP |
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HPO |
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ORPHA:254864 |
NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
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MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
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IAGP |
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HPO |
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ORPHA:2169 |
NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
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MYC |
MYC proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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ORPHA:543 |
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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MYORG |
myogenesis regulating glycosidase |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
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NFKB1 |
nuclear factor kappa B subunit 1 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
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NFKB2 |
nuclear factor kappa B subunit 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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NOD2 |
nucleotide binding oligomerization domain containing 2 |
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IAGP |
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HPO |
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ORPHA:90340 |
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PDGFRA |
platelet derived growth factor receptor alpha |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PDPN |
podoplanin |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX10 |
peroxisomal biogenesis factor 10 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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PEX11B |
peroxisomal biogenesis factor 11 beta |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
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PEX12 |
peroxisomal biogenesis factor 12 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
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PEX13 |
peroxisomal biogenesis factor 13 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
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PEX14 |
peroxisomal biogenesis factor 14 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
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PEX16 |
peroxisomal biogenesis factor 16 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
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PEX19 |
peroxisomal biogenesis factor 19 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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PEX26 |
peroxisomal biogenesis factor 26 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
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PEX3 |
peroxisomal biogenesis factor 3 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:44 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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POLG |
DNA polymerase gamma, catalytic subunit |
susceptibility |
IAGP |
DNA:missense mutation:cds:p.P1073L (3218C>T) |
HPO RGD |
PMID:20142534 |
ORPHA:254892, RGD:15039298 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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POLG2 |
DNA polymerase gamma 2, accessory subunit |
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IAGP |
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HPO |
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MIM:610131 ORPHA:254892 |
NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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PPOX |
protoporphyrinogen oxidase |
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IAGP |
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HPO |
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ORPHA:79473 |
NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
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PRDM16 |
PR/SET domain 16 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ |
protein kinase C zeta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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RAD51 |
RAD51 recombinase |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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RAD51C |
RAD51 paralog C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RFWD3 |
ring finger and WD repeat domain 3 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
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RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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IAGP |
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HPO |
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ORPHA:254892 |
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHC |
succinate dehydrogenase complex subunit C |
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IAGP |
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HPO |
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ORPHA:44890 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SERPINA1 |
serpin family A member 1 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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G |
SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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SKIC2 |
SKI2 subunit of superkiller complex |
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IAGP |
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HPO |
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ORPHA:84064 |
NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818
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SKIC3 |
SKI3 subunit of superkiller complex |
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IAGP |
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HPO |
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ORPHA:84064 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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SLC11A1 |
solute carrier family 11 member 1 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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SLC20A2 |
solute carrier family 20 member 2 |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
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SLC25A4 |
solute carrier family 25 member 4 |
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IAGP |
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HPO |
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ORPHA:254892 |
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
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SLC26A9 |
solute carrier family 26 member 9 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460
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SLC30A10 |
solute carrier family 30 member 10 |
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IAGP |
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HPO |
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ORPHA:309854 |
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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G |
SLC39A8 |
solute carrier family 39 member 8 |
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IAGP |
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HPO |
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ORPHA:468699 |
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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G |
SLC6A14 |
solute carrier family 6 member 14 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr X:116,436,606...116,461,458
Ensembl chr X:116,436,606...116,461,458
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SLC9A3 |
solute carrier family 9 member A3 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 5:470,456...524,449
Ensembl chr 5:470,456...524,449
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SLX4 |
SLX4 structure-specific endonuclease subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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SP110 |
SP110 nuclear body protein |
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IAGP |
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HPO |
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MIM:235550 |
NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
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SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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TF |
transferrin |
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IAGP |
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HPO |
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MIM:209300 |
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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ORPHA:586 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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ORPHA:140976 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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G |
TNFRSF13C |
TNF receptor superfamily member 13C |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
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TNFSF12 |
TNF superfamily member 12 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890
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TRMU |
tRNA mitochondrial 2-thiouridylase |
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IAGP |
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HPO |
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ORPHA:254864 |
NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
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TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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TWNK |
twinkle mtDNA helicase |
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IAGP |
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HPO |
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ORPHA:254892 |
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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UBE2T |
ubiquitin conjugating enzyme E2 T |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
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G |
UBE4B |
ubiquitination factor E4B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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G |
UGT1A1 |
UDP glucuronosyltransferase family 1 member A1 |
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IAGP |
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HPO |
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ORPHA:79234 |
NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
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G |
WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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G |
XPR1 |
xenotropic and polytropic retrovirus receptor 1 |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
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G |
XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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ABCB11 |
ATP binding cassette subfamily B member 11 |
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IAGP |
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HPO |
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ORPHA:69665 |
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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G |
ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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ORPHA:69665 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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G |
ATP8B1 |
ATPase phospholipid transporting 8B1 |
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IAGP |
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HPO |
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ORPHA:69665 |
NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
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G |
CFTR |
CF transmembrane conductance regulator |
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IAGP |
ClinVar Annotator: match by term: Abnormality of the pancreas |
ClinVar |
PMID:1710599 PMID:7739684 PMID:9797105 PMID:9921909 PMID:10950058 PMID:14872121 PMID:15463907 PMID:16741161 PMID:16915933 PMID:18306312 PMID:20977904 PMID:21131649 PMID:22427236 PMID:22995991 PMID:23420618 PMID:23751316 PMID:23781395 PMID:23974870 PMID:24033266 PMID:24451227 PMID:24624459 PMID:25033378 PMID:25492507 PMID:25569187 PMID:25741868 PMID:25797027 PMID:25826586 PMID:26014425 PMID:26089335 PMID:26100556 PMID:26335950 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26856995 PMID:27555793 PMID:28469871 PMID:28492532 PMID:28603918 PMID:29174009 PMID:29589582 PMID:30763667 PMID:30979466 PMID:31378749 PMID:31674704 PMID:32155011 PMID:32447501 PMID:33144682 PMID:33341408 PMID:33613790 PMID:34405919 PMID:34680554 PMID:34996830 PMID:35011616 PMID:35096544 PMID:35418593 PMID:36264955 More...
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NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:1555 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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G |
HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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ORPHA:887 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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G |
LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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ORPHA:2924 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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ORPHA:543 |
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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G |
NPHP3 |
nephrocystin 3 |
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IAGP |
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HPO |
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ORPHA:3032 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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G |
NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
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IAGP |
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HPO |
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ORPHA:69665 |
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:2750 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
PRKCSH |
PRKCSH beta subunit of glucosidase II |
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IAGP |
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HPO |
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ORPHA:2924 |
NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968
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G |
RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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SEC63 |
SEC63 homolog, protein translocation regulator |
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IAGP |
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HPO |
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ORPHA:2924 |
NCBI chr 6:107,867,756...107,958,208
Ensembl chr 6:107,867,756...107,958,208
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SKIC3 |
SKI3 subunit of superkiller complex |
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IAGP |
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HPO |
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MIM:222470 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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TF |
transferrin |
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IAGP |
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HPO |
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ORPHA:1195 |
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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ORPHA:2315 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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GLUD1 |
glutamate dehydrogenase 1 |
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IAGP |
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HPO |
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MIM:606762 |
NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
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MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:97279 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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YY1 |
YY1 transcription factor |
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IAGP |
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HPO |
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ORPHA:97279 |
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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CASZ1 |
castor zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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CBL |
Cbl proto-oncogene |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
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GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:2072 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:232 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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HMGA2 |
high mobility group AT-hook 2 |
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IAGP |
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HPO |
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ORPHA:94063 |
NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LEMD3 |
LEM domain containing 3 |
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IAGP |
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HPO |
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ORPHA:94063 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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LUZP1 |
leucine zipper protein 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MMP23B |
matrix metallopeptidase 23B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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MRAS |
muscle RAS oncogene homolog |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
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MYC |
MYC proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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ORPHA:543 |
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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PDPN |
podoplanin |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PRDM16 |
PR/SET domain 16 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ |
protein kinase C zeta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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RASA2 |
RAS p21 protein activator 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RIT1 |
Ras like without CAAX 1 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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G |
RRAS |
RAS related |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
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RRAS2 |
RAS related 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
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SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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SOS2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
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SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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G |
SPRED2 |
sprouty related EVH1 domain containing 2 |
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IAGP |
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HPO |
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ORPHA:648 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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G |
UBE4B |
ubiquitination factor E4B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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G |
WT1 |
WT1 transcription factor |
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IAGP |
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HPO |
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ORPHA:3097 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
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HPO |
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MIM:612284 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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G |
CNOT1 |
CCR4-NOT transcription complex subunit 1 |
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IAGP |
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HPO |
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MIM:618500 ORPHA:556955 |
NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
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G |
FOXF1 |
forkhead box F1 |
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IAGP |
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HPO |
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ORPHA:210122 |
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
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G |
GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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MIM:600001 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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INTU |
inturned planar cell polarity protein |
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IAGP |
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HPO |
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MIM:617925 |
NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
ClinVar Annotator: match by term: Absent gallbladder |
ClinVar |
PMID:25741868 |
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NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
RFX6 |
regulatory factor X6 |
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IAGP |
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HPO |
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MIM:615710 |
NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
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SON |
SON DNA and RNA binding protein |
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IAGP |
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HPO |
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MIM:617140 ORPHA:500150 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
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IAGP |
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HPO |
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MIM:300972 |
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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G |
B9D1 |
B9 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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G |
B9D2 |
B9 domain containing 2 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
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G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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G |
CENPF |
centromere protein F |
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IAGP |
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HPO |
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MIM:243605 |
NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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G |
CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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G |
CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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MIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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G |
CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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MIM:268300 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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G |
EXOC2 |
exocyst complex component 2 |
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IAGP |
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HPO |
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MIM:619306 |
NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
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G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
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IAGP |
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HPO |
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MIM:236680 |
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G |
LTBP4 |
latent transforming growth factor beta binding protein 4 |
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IAGP |
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HPO |
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MIM:613177 |
NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
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G |
MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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MIM:249000 ORPHA:564 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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MIM:164280 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
MYRF |
myelin regulatory factor |
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IAGP |
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HPO |
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MIM:618280 |
NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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G |
PPP2R3C |
protein phosphatase 2 regulatory subunit B''gamma |
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IAGP |
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HPO |
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MIM:618419 |
NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
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G |
PRIM1 |
DNA primase subunit 1 |
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IAGP |
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HPO |
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MIM:620005 |
NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374
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G |
RPGRIP1 |
RPGR interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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G |
RPGRIP1L |
RPGRIP1 like |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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G |
TCTN1 |
tectonic family member 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
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G |
TCTN2 |
tectonic family member 2 |
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IAGP |
|
HPO |
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ORPHA:564 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
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G |
TCTN3 |
tectonic family member 3 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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G |
TMEM107 |
transmembrane protein 107 |
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IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
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G |
TMEM216 |
transmembrane protein 216 |
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IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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G |
TMEM231 |
transmembrane protein 231 |
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IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
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G |
TMEM237 |
transmembrane protein 237 |
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IAGP |
|
HPO |
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ORPHA:564 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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G |
TMEM67 |
transmembrane protein 67 |
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IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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G |
TXNDC15 |
thioredoxin domain containing 15 |
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IAGP |
|
HPO |
|
ORPHA:564 |
NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
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G |
WT1 |
WT1 transcription factor |
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IAGP |
|
HPO |
|
MIM:608978 |
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
YARS1 |
tyrosyl-tRNA synthetase 1 |
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IAGP |
|
HPO |
|
MIM:619418 |
NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
|
HPO |
|
ORPHA:70567 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
|
HPO |
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ORPHA:70567 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
CYP7B1 |
cytochrome P450 family 7 subfamily B member 1 |
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IAGP |
|
HPO |
|
MIM:613812 |
NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
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G |
DCDC2 |
doublecortin domain containing 2 |
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IAGP |
DNA:missense mutation, deletion:p.K17N, p.F142_R186del (human) |
HPO RGD |
PMID:27319779 |
MIM:617394, RGD:11568452 |
NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
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G |
HSD3B7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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IAGP |
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HPO |
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MIM:607765 |
NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147
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MYO5B |
myosin VB |
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IAGP |
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HPO |
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MIM:619868 |
NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164
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PTPN3 |
protein tyrosine phosphatase non-receptor type 3 |
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IAGP |
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HPO |
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ORPHA:70567 |
NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
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RFX6 |
regulatory factor X6 |
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IAGP |
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HPO |
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MIM:615710 |
NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
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ROS1 |
ROS proto-oncogene 1, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:70567 |
NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
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CYP7A1 |
cytochrome P450 family 7 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:209902 |
NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163
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MCCC1 |
methylcrotonyl-CoA carboxylase subunit 1 |
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IAGP |
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HPO |
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MIM:210200 |
NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075
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ATP7B |
ATPase copper transporting beta |
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IAGP |
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HPO |
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ORPHA:905 |
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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SLC25A15 |
solute carrier family 25 member 15 |
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IAGP |
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HPO |
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MIM:238970 |
NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460
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AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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IAGP |
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HPO |
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MIM:608594 |
NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457
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APOE |
apolipoprotein E |
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IAGP |
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HPO |
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ORPHA:412 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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IAGP |
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HPO |
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MIM:269700 |
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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CYBC1 |
cytochrome b-245 chaperone 1 |
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IAGP |
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HPO |
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MIM:618935 |
NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
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HMGCL |
3-hydroxy-3-methylglutaryl-CoA lyase |
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IAGP |
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HPO |
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ORPHA:20 |
NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620
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IVD |
isovaleryl-CoA dehydrogenase |
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IAGP |
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HPO |
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ORPHA:33 |
NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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MIM:151660 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LPL |
lipoprotein lipase |
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IAGP |
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HPO |
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MIM:238600 |
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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NSMCE2 |
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase |
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IAGP |
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HPO |
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MIM:617253 |
NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125
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RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
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HPO |
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MIM:619487 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:97297 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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CASZ1 |
castor zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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MIM:227646 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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IAGP |
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HPO |
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ORPHA:2308 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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FOXF1 |
forkhead box F1 |
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IAGP |
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HPO |
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MIM:265380 ORPHA:210122 |
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
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GABRD |
gamma-aminobutyric acid type A receptor subunit delta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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G |
KCNAB2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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LUZP1 |
leucine zipper protein 1 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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MMP23B |
matrix metallopeptidase 23B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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MIM:164280 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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PDPN |
podoplanin |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PRDM16 |
PR/SET domain 16 |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ |
protein kinase C zeta |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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RARB |
retinoic acid receptor beta |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
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G |
RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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MIM:268400 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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MIM:616975 ORPHA:1606 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RFX6 |
regulatory factor X6 |
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IAGP |
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HPO |
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MIM:615710 |
NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
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SETBP1 |
SET binding protein 1 |
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IAGP |
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HPO |
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ORPHA:798 |
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SIK3 |
SIK family kinase 3 |
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IAGP |
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HPO |
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MIM:618162 |
NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437
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G |
SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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G |
SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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STRA6 |
signaling receptor and transporter of retinol STRA6 |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
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G |
TELO2 |
telomere maintenance 2 |
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IAGP |
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HPO |
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ORPHA:488642 |
NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
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G |
UBE4B |
ubiquitination factor E4B |
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IAGP |
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HPO |
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ORPHA:1606 |
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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G |
WNT7B |
Wnt family member 7B |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162
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G |
RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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MIM:218600 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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ORPHA:2255 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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G |
HNF1B |
HNF1 homeobox B |
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IAGP |
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HPO |
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ORPHA:93111 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
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G |
PTF1A |
pancreas associated transcription factor 1a |
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IAGP |
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HPO |
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ORPHA:65288 |
NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245
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G |
PTRH2 |
peptidyl-tRNA hydrolase 2 |
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IAGP |
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HPO |
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ORPHA:456312 |
NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
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G |
RARB |
retinoic acid receptor beta |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
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G |
STRA6 |
signaling receptor and transporter of retinol STRA6 |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267
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G |
WNT7B |
Wnt family member 7B |
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IAGP |
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HPO |
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ORPHA:2470 |
NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162
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G |
AIRE |
autoimmune regulator |
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IAGP |
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HPO |
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MIM:240300 |
NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
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G |
B9D1 |
B9 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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G |
B9D2 |
B9 domain containing 2 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
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G |
BCL11A |
BCL11 transcription factor A |
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IAGP |
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HPO |
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ORPHA:251380 |
NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
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G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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G |
CCDC32 |
coiled-coil domain containing 32 |
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IAGP |
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HPO |
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MIM:619123 |
NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054
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G |
CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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G |
CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
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G |
CCDC65 |
coiled-coil domain containing 65 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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G |
CCNO |
cyclin O |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
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G |
CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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G |
CFAP221 |
cilia and flagella associated protein 221 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
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G |
CFAP298 |
cilia and flagella associated protein 298 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
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G |
CFAP300 |
cilia and flagella associated protein 300 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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G |
CFAP74 |
cilia and flagella associated protein 74 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
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G |
CFC1 |
cryptic, EGF-CFC family member 1 |
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IAGP |
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HPO |
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MIM:605376 |
NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
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G |
CSPP1 |
centrosome and spindle pole associated protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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G |
DNAAF1 |
dynein axonemal assembly factor 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
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G |
DNAAF11 |
dynein axonemal assembly factor 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
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G |
DNAAF2 |
dynein axonemal assembly factor 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
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G |
DNAAF3 |
dynein axonemal assembly factor 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
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G |
DNAAF4 |
dynein axonemal assembly factor 4 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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G |
DNAAF5 |
dynein axonemal assembly factor 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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G |
DNAAF6 |
dynein axonemal assembly factor 6 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:107,206,611...107,244,247
Ensembl chr X:107,206,611...107,244,247
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G |
DNAH1 |
dynein axonemal heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
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G |
DNAH11 |
dynein axonemal heavy chain 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
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G |
DNAH5 |
dynein axonemal heavy chain 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
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G |
DNAH9 |
dynein axonemal heavy chain 9 |
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IAGP |
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HPO |
|
ORPHA:244 |
NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
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G |
DNAI1 |
dynein axonemal intermediate chain 1 |
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IAGP |
|
HPO |
|
MIM:244400 ORPHA:244 |
NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
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G |
DNAI2 |
dynein axonemal intermediate chain 2 |
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IAGP |
|
HPO |
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ORPHA:244 |
NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
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G |
DNAJB13 |
DnaJ heat shock protein family (Hsp40) member B13 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
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G |
DNAL1 |
dynein axonemal light chain 1 |
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IAGP |
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HPO |
|
ORPHA:244 |
NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
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G |
DRC1 |
dynein regulatory complex subunit 1 |
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IAGP |
|
HPO |
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ORPHA:244 |
NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
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G |
FAM111A |
FAM111 trypsin like peptidase A |
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IAGP |
|
HPO |
|
MIM:602361 |
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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G |
FOXF1 |
forkhead box F1 |
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IAGP |
|
HPO |
|
MIM:265380 ORPHA:210122 |
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
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G |
FOXJ1 |
forkhead box J1 |
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IAGP |
|
HPO |
|
ORPHA:244 |
NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
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G |
GAS2L2 |
growth arrest specific 2 like 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
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G |
GAS8 |
growth arrest specific 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
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GDF1 |
growth differentiation factor 1 |
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IAGP |
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HPO |
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MIM:208530 |
NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
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G |
HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:251380 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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G |
HBG1 |
hemoglobin subunit gamma 1 |
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IAGP |
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HPO |
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ORPHA:251380 |
NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857
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G |
HBG2 |
hemoglobin subunit gamma 2 |
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IAGP |
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HPO |
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ORPHA:251380 |
NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605
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G |
HMOX1 |
heme oxygenase 1 |
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IAGP |
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HPO |
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MIM:614034 |
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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G |
HYDIN |
HYDIN axonemal central pair apparatus protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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G |
KLF1 |
KLF transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:251380 |
NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
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G |
LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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G |
MCIDAS |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
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G |
MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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MIM:249000 ORPHA:564 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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G |
MNS1 |
meiosis specific nuclear structural 1 |
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IAGP |
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HPO |
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MIM:618948 |
NCBI chr15:56,428,724...56,465,137
Ensembl chr15:56,421,544...56,465,137
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
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HPO |
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MIM:164280 |
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
NEK10 |
NIMA related kinase 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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G |
NEK8 |
NIMA related kinase 8 |
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IAGP |
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HPO |
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MIM:615415 |
NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455
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G |
NME5 |
NME/NM23 family member 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
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G |
NME8 |
NME/NM23 family member 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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MIM:270100 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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G |
NPHP3 |
nephrocystin 3 |
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IAGP |
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HPO |
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MIM:208540 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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G |
NR2F2 |
nuclear receptor subfamily 2 group F member 2 |
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IAGP |
ClinVar Annotator: match by term: Asplenia |
ClinVar |
PMID:24702954 PMID:25741868 |
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NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
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G |
ODAD1 |
outer dynein arm docking complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
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G |
ODAD2 |
outer dynein arm docking complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
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G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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G |
ODAD4 |
outer dynein arm docking complex subunit 4 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
ORAI1 |
ORAI calcium release-activated calcium modulator 1 |
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IAGP |
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HPO |
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ORPHA:3204 |
NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218
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G |
RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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G |
RPGRIP1 |
RPGR interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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G |
RPGRIP1L |
RPGRIP1 like |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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G |
RPSA |
ribosomal protein SA |
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IAGP |
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HPO |
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MIM:271400 |
NCBI chr 3:39,406,720...39,412,542
Ensembl chr 3:39,406,716...39,426,255
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G |
RSPH1 |
radial spoke head component 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
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G |
RSPH3 |
radial spoke head 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202
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G |
RSPH4A |
radial spoke head component 4A |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
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G |
RSPH9 |
radial spoke head component 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
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G |
SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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MIM:619657 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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G |
SPAG1 |
sperm associated antigen 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
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G |
SPEF2 |
sperm flagellar 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
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G |
STIM1 |
stromal interaction molecule 1 |
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IAGP |
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HPO |
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MIM:185070 ORPHA:3204 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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G |
STK36 |
serine/threonine kinase 36 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
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G |
TCTN1 |
tectonic family member 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
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G |
TCTN2 |
tectonic family member 2 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
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G |
TCTN3 |
tectonic family member 3 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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G |
TMEM107 |
transmembrane protein 107 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
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G |
TMEM216 |
transmembrane protein 216 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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G |
TMEM231 |
transmembrane protein 231 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
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G |
TMEM237 |
transmembrane protein 237 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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G |
TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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G |
TTC12 |
tetratricopeptide repeat domain 12 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
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G |
TWIST1 |
twist family bHLH transcription factor 1 |
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IAGP |
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HPO |
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MIM:617746 |
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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G |
TXNDC15 |
thioredoxin domain containing 15 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
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G |
WNT3 |
Wnt family member 3 |
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IAGP |
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HPO |
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MIM:273395 |
NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
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G |
ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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G |
ZIC3 |
Zic family member 3 |
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IAGP |
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HPO |
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MIM:306955 |
NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
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G |
ZMYND10 |
zinc finger MYND-type containing 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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G |
ATP7B |
ATPase copper transporting beta |
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IAGP |
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HPO |
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MIM:277900 |
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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G |
FOXN1 |
forkhead box N1 |
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IAGP |
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HPO |
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ORPHA:83471 |
NCBI chr17:28,506,348...28,538,900
Ensembl chr17:28,506,243...28,538,900
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G |
IL21 |
interleukin 21 |
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IAGP |
DNA:SNPs:introns: (rs2221903, rs907715) |
RGD |
PMID:29879024 |
RGD:127285539 |
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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G |
FOCAD |
focadhesin |
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IAGP |
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HPO |
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MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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G |
SLC25A13 |
solute carrier family 25 member 13 |
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IAGP |
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HPO |
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MIM:603471 |
NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147
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G |
CPE |
carboxypeptidase E |
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IAGP |
DNA:SNP:cds (rs1583645) (human) |
RGD |
PMID:23776430 |
RGD:405650683 |
NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547
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G |
GCK |
glucokinase |
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IAGP |
DNA:SNP:promoter:-30G>A(human) |
RGD |
PMID:15173029 |
RGD:2301876 |
NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
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G |
IDE |
insulin degrading enzyme |
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IAGP |
DNA:SNP:cds (rs6583813) (human) |
RGD |
PMID:23776430 |
RGD:405650683 |
NCBI chr10:92,451,684...92,574,093
Ensembl chr10:92,451,684...92,574,096
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G |
PAX4 |
paired box 4 |
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IAGP |
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HPO |
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MIM:612227 |
NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
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G |
PTH |
parathyroid hormone |
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IAGP |
DNA:snp:exon:g.350C>A (rs6256) |
RGD |
PMID:22777106 |
RGD:7242744 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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MIM:175200 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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MIM:600803 MIM:602347 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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G |
CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
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HPO |
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MIM:612284 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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G |
CEP290 |
centrosomal protein 290 |
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IAGP |
|
HPO |
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MIM:611134 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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G |
CLDN1 |
claudin 1 |
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IAGP |
|
HPO |
|
MIM:607626 |
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
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G |
CYP7B1 |
cytochrome P450 family 7 subfamily B member 1 |
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IAGP |
|
HPO |
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MIM:613812 ORPHA:79302 |
NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
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G |
DCDC2 |
doublecortin domain containing 2 |
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IAGP |
|
HPO |
|
MIM:616217 MIM:617394 |
NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
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G |
FARSB |
phenylalanyl-tRNA synthetase subunit beta |
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IAGP |
|
HPO |
|
MIM:613658 |
NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092
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G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
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IAGP |
|
HPO |
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MIM:261515 |
NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
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G |
IFT56 |
intraflagellar transport 56 |
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IAGP |
|
HPO |
|
MIM:619534 |
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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G |
KIF12 |
kinesin family member 12 |
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IAGP |
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HPO |
|
MIM:619662 |
NCBI chr 9:114,091,638...114,099,292
Ensembl chr 9:114,086,126...114,099,292
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G |
MED12 |
mediator complex subunit 12 |
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IAGP |
|
HPO |
|
MIM:301068 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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G |
MICOS13 |
mitochondrial contact site and cristae organizing system subunit 13 |
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IAGP |
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HPO |
|
MIM:618329 |
NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516
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G |
MKS1 |
MKS transition zone complex subunit 1 |
|
IAGP |
|
HPO |
|
MIM:249000 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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G |
NPHP3 |
nephrocystin 3 |
|
IAGP |
|
HPO |
|
MIM:208540 MIM:267010 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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G |
PHKG2 |
phosphorylase kinase catalytic subunit gamma 2 |
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IAGP |
|
HPO |
|
MIM:613027 |
NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
|
HPO |
|
MIM:203700 |
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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G |
RPGRIP1L |
RPGRIP1 like |
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IAGP |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
HPO RGD |
PMID:17558409 |
MIM:611561, RGD:11073359 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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G |
SLC37A4 |
solute carrier family 37 member 4 |
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IAGP |
|
HPO |
|
MIM:619525 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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G |
TMEM216 |
transmembrane protein 216 |
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IAGP |
|
HPO |
|
MIM:603194 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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G |
TMEM67 |
transmembrane protein 67 |
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IAGP |
|
HPO |
|
MIM:607361 MIM:610688 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
|
HPO |
|
MIM:613610 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
|
HPO |
|
MIM:615272 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
GATA6 |
GATA binding protein 6 |
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IAGP |
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HPO |
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MIM:600001 ORPHA:2255 |
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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G |
RFX6 |
regulatory factor X6 |
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IAGP |
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HPO |
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MIM:615710 |
NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161
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G |
ZIC3 |
Zic family member 3 |
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IAGP |
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HPO |
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MIM:306955 |
NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
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G |
ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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ORPHA:69663 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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G |
CFTR |
CF transmembrane conductance regulator |
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IAGP |
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HPO |
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MIM:219700 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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G |
DCDC2 |
doublecortin domain containing 2 |
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IAGP |
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HPO |
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MIM:617394 |
NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
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G |
FCGR2A |
Fc gamma receptor IIa |
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IAGP |
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HPO |
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MIM:219700 |
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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G |
IFT56 |
intraflagellar transport 56 |
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IAGP |
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HPO |
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MIM:619534 |
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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G |
IL12A |
interleukin 12A |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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G |
IL12RB1 |
interleukin 12 receptor subunit beta 1 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
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G |
IRF5 |
interferon regulatory factor 5 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
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G |
KRT18 |
keratin 18 |
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IAGP |
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HPO |
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MIM:215600 |
NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906
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G |
LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:613471 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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G |
MMEL1 |
membrane metalloendopeptidase like 1 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
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G |
NPHP3 |
nephrocystin 3 |
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IAGP |
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HPO |
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MIM:208540 MIM:267010 |
NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
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G |
PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
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HPO |
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ORPHA:53035 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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G |
POU2AF1 |
POU class 2 homeobox associating factor 1 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr11:111,352,255...111,379,275
Ensembl chr11:111,352,255...111,455,630
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G |
SPIB |
Spi-B transcription factor |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
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G |
STAT4 |
signal transducer and activator of transcription 4 |
susceptibility |
IAGP |
DNA:SNPs, haplotypes:multiple associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) DNA:SNP: intron: (rs7574865) (human) |
RGD |
PMID:24648611 PMID:26084578 PMID:28395724 |
RGD:25671415, RGD:25671421, RGD:25671416 |
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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G |
STX5 |
syntaxin 5 |
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IAGP |
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HPO |
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MIM:620454 |
NCBI chr11:62,806,860...62,832,051
Ensembl chr11:62,806,860...62,832,051
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G |
TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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MIM:219700 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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G |
TJP2 |
tight junction protein 2 |
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IAGP |
ClinVar Annotator: match by term: Primary biliary cirrhosis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32439973 |
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NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
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G |
TNFSF15 |
TNF superfamily member 15 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
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G |
TNPO3 |
transportin 3 |
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IAGP |
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HPO |
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ORPHA:186 |
NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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MIM:613610 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
DZIP1L |
DAZ interacting zinc finger protein 1 like |
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IAGP |
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HPO |
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ORPHA:731 |
NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
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G |
FOCAD |
focadhesin |
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IAGP |
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HPO |
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MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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G |
PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
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HPO |
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ORPHA:731 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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G |
ABCC2 |
ATP binding cassette subfamily C member 2 |
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IAGP |
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HPO |
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MIM:237500 ORPHA:234 |
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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G |
ARL6 |
ARF like GTPase 6 |
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IAGP |
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HPO |
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MIM:209900 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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G |
B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:261540 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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MIM:209900 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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G |
CCDC28B |
coiled-coil domain containing 28B |
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IAGP |
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HPO |
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MIM:209900 |
NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
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G |
CIITA |
class II major histocompatibility complex transactivator |
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IAGP |
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HPO |
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MIM:209920 |
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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G |
CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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G |
CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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G |
ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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MIM:268300 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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G |
HNF1B |
HNF1 homeobox B |
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IAGP |
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HPO |
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MIM:137920 |
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
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G |
HSD3B7 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
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IAGP |
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HPO |
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ORPHA:79301 |
NCBI chr16:30,985,207...30,989,147
Ensembl chr16:30,985,207...30,989,147
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G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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MIM:194190 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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MIM:175200 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
UGT1A1 |
UDP glucuronosyltransferase family 1 member A1 |
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IAGP |
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HPO |
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ORPHA:79234 |
NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:70567 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:70567 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
PTPN3 |
protein tyrosine phosphatase non-receptor type 3 |
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IAGP |
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HPO |
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ORPHA:70567 |
NCBI chr 9:109,375,694...109,538,420
Ensembl chr 9:109,375,466...109,498,313
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G |
RNF43 |
ring finger protein 43 |
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IAGP |
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HPO |
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ORPHA:157798 |
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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G |
ROS1 |
ROS proto-oncogene 1, receptor tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:70567 |
NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
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G |
STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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ORPHA:2869 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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ORPHA:69663 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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ORPHA:77259 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
SCARB2 |
scavenger receptor class B member 2 |
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IAGP |
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HPO |
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ORPHA:77259 |
NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
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G |
B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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MIM:261540 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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G |
SC5D |
sterol-C5-desaturase |
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IAGP |
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HPO |
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MIM:607330 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
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G |
HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 PMID:28492532 More...
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NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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G |
BMP6 |
bone morphogenetic protein 6 |
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IAGP |
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HPO |
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ORPHA:465508 |
NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
DNA:missense mutation:cds:multiple mutations |
RGD |
PMID:12692057 |
RGD:11073239 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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G |
CXCR1 |
C-X-C motif chemokine receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
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G |
DZIP1L |
DAZ interacting zinc finger protein 1 like |
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IAGP |
|
HPO |
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ORPHA:731 |
NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
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G |
EGF |
epidermal growth factor |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:25741868 PMID:28492532 |
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NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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G |
EGFR |
epidermal growth factor receptor |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
GPR35 |
G protein-coupled receptor 35 |
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IAGP |
|
HPO |
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ORPHA:171 |
NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
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G |
HFE |
homeostatic iron regulator |
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IAGP |
|
HPO |
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ORPHA:465508 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
|
IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 |
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NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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G |
HIF1A-AS3 |
HIF1A antisense RNA 3 |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 |
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NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163
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G |
IL10 |
interleukin 10 |
|
IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
IL19 |
interleukin 19 |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
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G |
IL1B |
interleukin 1 beta |
|
IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL6 |
interleukin 6 |
|
IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
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NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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G |
IL6-AS1 |
IL6 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
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NCBI chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620
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G |
LOC126859963 |
BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 |
|
IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
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NCBI chr 7:22,726,650...22,727,849
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G |
LRP1B |
LDL receptor related protein 1B |
exacerbates |
IAGP |
DNA:mutations:multiple |
RGD |
PMID:33014052 |
RGD:150429786 |
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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G |
MLH1 |
mutL homolog 1 |
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IAGP |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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G |
MSH2 |
mutS homolog 2 |
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IAGP |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:33357406 |
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NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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G |
MST1 |
macrophage stimulating 1 |
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IAGP |
|
HPO |
|
ORPHA:171 |
NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501
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G |
PACERR |
PTGS2 antisense NFKB1 complex-mediated expression regulator RNA |
|
IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
|
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NCBI chr 1:186,680,654...186,681,446
Ensembl chr 1:186,680,108...186,683,165
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PALB2 |
partner and localizer of BRCA2 |
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IAGP |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 |
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NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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PKD1 |
polycystin 1, transient receptor potential channel interacting |
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IAGP |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 PMID:27782177 More...
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NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
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HPO |
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ORPHA:53035 ORPHA:731 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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POLD1 |
DNA polymerase delta 1, catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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PTGS2 |
prostaglandin-endoperoxide synthase 2 |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
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NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RNF43 |
ring finger protein 43 |
exacerbates |
IAGP |
associated with opisthorchiasis;DNA:SNPs:multiple: |
RGD |
PMID:22561520 |
RGD:151361227 |
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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SEMA4D |
semaphorin 4D |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130
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STK11 |
serine/threonine kinase 11 |
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IAGP |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TCF4 |
transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:171 |
NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
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VEGFA |
vascular endothelial growth factor A |
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IAGP |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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MIM:600803 ORPHA:69663 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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ABCD1 |
ATP binding cassette subfamily D member 1 |
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IAGP |
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HPO |
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ORPHA:369942 |
NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755
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BCAP31 |
B cell receptor associated protein 31 |
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IAGP |
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HPO |
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ORPHA:369942 |
NCBI chr X:153,700,492...153,724,387
Ensembl chr X:153,700,492...153,724,565
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BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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IAGP |
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HPO |
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MIM:124000 |
NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443
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CIITA |
class II major histocompatibility complex transactivator |
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IAGP |
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HPO |
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MIM:209920 |
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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DZIP1L |
DAZ interacting zinc finger protein 1 like |
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IAGP |
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HPO |
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ORPHA:731 |
NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
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IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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MIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IGHG2 |
immunoglobulin heavy constant gamma 2 (G2m marker) |
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IAGP |
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HPO |
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ORPHA:183675 |
NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
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IGKC |
immunoglobulin kappa constant |
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IAGP |
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HPO |
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ORPHA:183675 |
NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
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IL21R |
interleukin 21 receptor |
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IAGP |
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HPO |
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MIM:615207 |
NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
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IL36RN |
interleukin 36 receptor antagonist |
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IAGP |
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HPO |
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MIM:614204 |
NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
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ITCH |
itchy E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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ORPHA:228426 |
NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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MIM:301068 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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IAGP |
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HPO |
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ORPHA:53035 ORPHA:731 |
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
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REL |
REL proto-oncogene, NF-kB subunit |
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IAGP |
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HPO |
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MIM:619652 |
NCBI chr 2:60,881,574...60,931,612
Ensembl chr 2:60,881,491...60,931,612
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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MIM:613610 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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XIAP |
X-linked inhibitor of apoptosis |
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IAGP |
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HPO |
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ORPHA:538934 |
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
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ABCB11 |
ATP binding cassette subfamily B member 11 |
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IAGP |
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HPO |
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ORPHA:69665 |
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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MIM:600803 ORPHA:69663 ORPHA:69665 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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ALDOA |
aldolase, fructose-bisphosphate A |
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IAGP |
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HPO |
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MIM:611881 |
NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
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ARSA |
arylsulfatase A |
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IAGP |
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HPO |
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MIM:250100 ORPHA:309256 ORPHA:309263 ORPHA:309271 |
NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
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ATP8B1 |
ATPase phospholipid transporting 8B1 |
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IAGP |
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HPO |
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ORPHA:69665 |
NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
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CALR |
calreticulin |
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IAGP |
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HPO |
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ORPHA:131 |
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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F5 |
coagulation factor V |
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IAGP |
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HPO |
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ORPHA:131 |
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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GPI |
glucose-6-phosphate isomerase |
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IAGP |
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HPO |
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MIM:613470 |
NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413
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HK1 |
hexokinase 1 |
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IAGP |
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HPO |
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MIM:235700 |
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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IGHG2 |
immunoglobulin heavy constant gamma 2 (G2m marker) |
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IAGP |
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HPO |
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ORPHA:183675 |
NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
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IGKC |
immunoglobulin kappa constant |
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IAGP |
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HPO |
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ORPHA:183675 |
NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
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JAK2 |
Janus kinase 2 |
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IAGP |
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HPO |
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ORPHA:131 |
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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MECP2 |
methyl-CpG binding protein 2 |
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IAGP |
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HPO |
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ORPHA:778 |
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
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IAGP |
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HPO |
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ORPHA:69665 |
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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PKLR |
pyruvate kinase L/R |
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IAGP |
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HPO |
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MIM:266200 |
NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438
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PNPLA2 |
patatin like phospholipase domain containing 2 |
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IAGP |
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HPO |
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ORPHA:98908 |
NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
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POT1 |
protection of telomeres 1 |
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IAGP |
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HPO |
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MIM:620367 |
NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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PSAP |
prosaposin |
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IAGP |
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HPO |
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ORPHA:309256 ORPHA:309263 ORPHA:309271 |
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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TFE3 |
transcription factor binding to IGHM enhancer 3 |
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IAGP |
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HPO |
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MIM:301066 |
NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410
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TPI1 |
triosephosphate isomerase 1 |
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IAGP |
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HPO |
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MIM:615512 |
NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948
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ABCB11 |
ATP binding cassette subfamily B member 11 |
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IAGP |
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HPO |
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MIM:605479 |
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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ABCB4 |
ATP binding cassette subfamily B member 4 |
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IAGP |
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HPO |
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MIM:600803 ORPHA:69663 |
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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ABCG8 |
ATP binding cassette subfamily G member 8 |
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IAGP |
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HPO |
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MIM:611465 |
NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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ORPHA:963 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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AIRE |
autoimmune regulator |
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IAGP |
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HPO |
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MIM:240300 |
NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
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ALAS2 |
5'-aminolevulinate synthase 2 |
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IAGP |
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HPO |
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MIM:300752 |
NCBI chr X:55,009,055...55,030,977
Ensembl chr X:55,009,055...55,030,977
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ALDOA |
aldolase, fructose-bisphosphate A |
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IAGP |
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HPO |
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MIM:611881 |
NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
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AMACR |
alpha-methylacyl-CoA racemase |
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IAGP |
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HPO |
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ORPHA:79095 |
NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
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ANK1 |
ankyrin 1 |
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IAGP |
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HPO |
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MIM:182900 ORPHA:822 |
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
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ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ASXL1 |
ASXL transcriptional regulator 1 |
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IAGP |
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HPO |
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ORPHA:97297 |
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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ATP8B1 |
ATPase phospholipid transporting 8B1 |
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IAGP |
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HPO |
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MIM:211600 |
NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315
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BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BLVRA |
biliverdin reductase A |
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IAGP |
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HPO |
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MIM:614156 |
NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342
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BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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CCDC47 |
coiled-coil domain containing 47 |
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IAGP |
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HPO |
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MIM:618268 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CYP27A1 |
cytochrome P450 family 27 subfamily A member 1 |
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IAGP |
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HPO |
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MIM:213700 ORPHA:909 |
NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
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DMPK |
DM1 protein kinase |
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IAGP |
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HPO |
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MIM:160900 |
NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552
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DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EPB41 |
erythrocyte membrane protein band 4.1 |
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IAGP |
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HPO |
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ORPHA:288 |
NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046
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EPB42 |
erythrocyte membrane protein band 4.2 |
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IAGP |
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HPO |
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ORPHA:822 |
NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
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FECH |
ferrochelatase |
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IAGP |
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HPO |
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MIM:177000 ORPHA:79278 |
NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732
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FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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G |
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