ONTOLOGY REPORT - ANNOTATIONS
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Bone Diseases, Developmental
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Comp | cartilage oligomeric matrix protein | ISS | RGD:1298777 | RGD | ||||||
| G | Flnb | filamin B, beta |
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ISS | 15 | 18,949,027 | 19,082,504 | RGD:1601168 | RGD | ||
| G | Flnb | filamin B, beta |
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ISS | 15 | 18,949,027 | 19,082,504 | RGD:1601170 | RGD | ||
| G | Ghr | growth hormone receptor |
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ISS | 2 | 52,496,517 | 52,658,066 | RGD:704404 | RGD | ||
| G | Sox9 | SRY (sex determining region Y)-box 9 |
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ISS | 10 | 102,392,187 | 102,394,256 | RGD:1599093 | RGD | ||
| G | Tnfrsf11a | tumor necrosis factor receptor superfamily, member 11a, NFKB activator |
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ISS | 13 | 11,958,002 | 12,014,371 | RGD:1599463 | RGD | ||
Aarskog syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgd1 | FYVE, RhoGEF and PH domain containing 1 |
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ISS | X | 40,364,211 | 40,407,213 | RGD:7240710 | OMIM | ||
Achondrogenesis type 1A
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trip11 | thyroid hormone receptor interactor 11 |
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ISS | 6 | 126,119,081 | 126,188,777 | RGD:7240710 | OMIM | ||
Achondrogenesis type 1B
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Slc26a2 | solute carrier family 26 (sulfate transporter), member 2 |
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ISS | 18 | 57,170,814 | 57,184,489 | RGD:7240710 | OMIM | ||
Achondrogenesis type 2
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
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ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Achondroplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
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ISS | 14 | 82,683,191 | 82,697,229 | RGD:704404 | RGD | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
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ISS | 14 | 82,683,191 | 82,697,229 | RGD:1598937 | RGD | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
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ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
| G | Npr2 | natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) |
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ISS | 5 | 60,107,563 | 60,127,960 | RGD:1580771 | RGD | ||
Acrocapitofemoral Dysplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ihh | Indian hedgehog |
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ISS | 9 | 74,287,115 | 74,293,332 | RGD:7240710 | OMIM | ||
Acrocephalopolysyndactyly Type II
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Rab23 | RAB23, member RAS oncogene family |
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ISS | 9 | 32,465,752 | 32,486,615 | RGD:7240710 | OMIM | ||
Acrocephalosyndactylia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr1 | Fibroblast growth factor receptor 1 |
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ISS | 16 | 70,869,974 | 70,910,045 | RGD:704404 | RGD | ||
| G | Fgfr1 | Fibroblast growth factor receptor 1 |
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ISS | 16 | 70,869,974 | 70,910,045 | RGD:7240710 | OMIM | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
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ISS | 1 | 189,482,975 | 189,589,279 | RGD:704404 | RGD | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
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ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
| G | Twist1 | twist basic helix-loop-helix transcription factor 1 |
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ISS | 6 | 52,605,869 | 52,607,863 | RGD:1624353 | RGD | ||
| G | Twist1 | twist basic helix-loop-helix transcription factor 1 |
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ISS | 6 | 52,605,869 | 52,607,863 | RGD:7240710 | OMIM | ||
Acromesomelic dysplasia Hunter-Thompson type
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gdf5 | growth differentiation factor 5 | ISS | RGD:7240710 | OMIM | ||||||
Acromesomelic dysplasia, Maroteaux type
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Npr2 | natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) |
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ISS | 5 | 60,107,563 | 60,127,960 | RGD:7240710 | OMIM | ||
Anauxetic dysplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Rmrp | RNA component of mitochondrial RNA processing endoribonuclease |
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ISS | 15 | 26,789,869 | 26,790,125 | RGD:7240710 | OMIM | ||
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Por | P450 (cytochrome) oxidoreductase |
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ISS | 12 | 22,078,629 | 22,097,301 | RGD:7240710 | OMIM | ||
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
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ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
Asphyxiating Thoracic Dystrophy 2
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ift80 | intraflagellar transport 80 homolog (Chlamydomonas) |
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ISS | 2 | 158,892,673 | 158,987,059 | RGD:7240710 | OMIM | ||
Asphyxiating Thoracic Dystrophy 3
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 |
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ISS | 8 | 3,826,843 | 4,072,644 | RGD:7240710 | OMIM | ||
Atelosteogenesis type 2
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Slc26a2 | solute carrier family 26 (sulfate transporter), member 2 |
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ISS | 18 | 57,170,814 | 57,184,489 | RGD:7240710 | OMIM | ||
Atelosteogenesis, type 1
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flnb | filamin B, beta |
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ISS | 15 | 18,949,027 | 19,082,504 | RGD:7240710 | OMIM | ||
| G | Sct | secretin |
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ISS | 1 | 201,472,250 | 201,472,944 | RGD:7240710 | OMIM | ||
ATELOSTEOGENESIS, TYPE III
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flnb | filamin B, beta |
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ISS | 15 | 18,949,027 | 19,082,504 | RGD:7240710 | OMIM | ||
| G | Sct | secretin |
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ISS | 1 | 201,472,250 | 201,472,944 | RGD:7240710 | OMIM | ||
Basal Cell Nevus Syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ptch1 | patched 1 |
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ISS | 17 | 7,088,234 | 7,142,459 | RGD:7240710 | OMIM | ||
Bohring syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Asxl1 | additional sex combs like 1 |
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ISS | 3 | 143,703,295 | 143,767,523 | RGD:7240710 | OMIM | ||
Boomerang dysplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flnb | filamin B, beta |
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ISS | 15 | 18,949,027 | 19,082,504 | RGD:7240710 | OMIM | ||
| G | Sct | secretin |
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ISS | 1 | 201,472,250 | 201,472,944 | RGD:7240710 | OMIM | ||
Brachydactyly-Syndactyly Syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Hoxd13 | homeo box D13 |
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ISS | 3 | 57,283,682 | 57,286,998 | RGD:7240710 | OMIM | ||
Brachyolmia Type 3
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trpv4 | transient receptor potential cation channel, subfamily V, member 4 |
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ISS | 12 | 43,226,933 | 43,265,889 | RGD:7240710 | OMIM | ||
Bruck syndrome 2
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Plod2 | procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 |
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ISS | 8 | 97,525,279 | 97,623,152 | RGD:7240710 | OMIM | ||
Buschke-Ollendorff syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lemd3 | LEM domain containing 3 |
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ISS | 7 | 60,232,118 | 60,281,459 | RGD:7240710 | OMIM | ||
C SYNDROME
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Cd96 | CD96 molecule |
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ISS | 11 | 56,183,593 | 56,258,568 | RGD:7240710 | OMIM | ||
Camurati-Engelmann Syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tgfb1 | transforming growth factor, beta 1 |
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ISS | 1 | 80,894,705 | 80,911,020 | RGD:7240710 | OMIM | ||
Cartilage-hair hypoplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Rmrp | RNA component of mitochondrial RNA processing endoribonuclease |
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ISS | 15 | 26,789,869 | 26,790,125 | RGD:7240710 | OMIM | ||
CATSHL syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
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ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
Cerebrooculofacioskeletal Syndrome 1
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ercc6 | excision repair cross-complementing rodent repair deficiency, complementation group 6 |
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ISS | 16 | 8,024,881 | 8,091,587 | RGD:7240710 | OMIM | ||
Cherubism
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Sh3bp2 | SH3-domain binding protein 2 |
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ISS | 14 | 81,818,728 | 81,855,875 | RGD:1599339 | RGD | ||
| G | Sh3bp2 | SH3-domain binding protein 2 |
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ISS | 14 | 81,818,728 | 81,855,875 | RGD:7240710 | OMIM | ||
Chondrodysplasia Punctata
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Arse | arylsulfatase E (chondrodysplasia punctata 1) |
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Susceptibility | ISS | 2 | 122,663,037 | 122,670,111 | RGD:1599238 | RGD | |
| G | Ebp | emopamil binding protein (sterol isomerase) |
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ISS | X | 26,331,199 | 26,337,542 | RGD:734908 | RGD | ||
Chondrodysplasia punctata 2, X-linked dominant
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ebp | emopamil binding protein (sterol isomerase) |
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ISS | X | 26,331,199 | 26,337,542 | RGD:7240710 | OMIM | ||
Chondrodysplasia punctata, brachytelephalangic
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Arse | arylsulfatase E (chondrodysplasia punctata 1) |
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ISS | 2 | 122,663,037 | 122,670,111 | RGD:7240710 | OMIM | ||
Chondrodysplasia Punctata, Rhizomelic
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Agps | alkylglycerone phosphate synthase | ISS | RGD:1300366 | RGD | ||||||
| G | Gnpat | glyceronephosphate O-acyltransferase |
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ISS | 19 | 55,033,777 | 55,059,491 | RGD:704404 | RGD | ||
| G | Pex7 | peroxisomal biogenesis factor 7 |
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ISS | 1 | 15,099,265 | 15,163,734 | RGD:704404 | RGD | ||
| G | Pex7 | peroxisomal biogenesis factor 7 |
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ISS | 1 | 15,099,265 | 15,163,734 | RGD:7240710 | OMIM | ||
Chondrodysplasia, Grebe type
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gdf5 | growth differentiation factor 5 | ISS | RGD:7240710 | OMIM | ||||||
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Nkx2-1 | NK2 homeobox 1 |
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ISS | 6 | 76,916,943 | 76,920,133 | RGD:7240710 | OMIM | ||
| G | Ttf1 | transcription termination factor, RNA polymerase I |
|
ISS | 3 | 8,067,017 | 8,086,185 | RGD:7240710 | OMIM | ||
Cleidocranial Dysplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Runx2 | runt-related transcription factor 2 |
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ISS | 9 | 11,869,234 | 12,025,219 | RGD:1601649 | RGD | ||
| G | Runx2 | runt-related transcription factor 2 |
|
ISS | 9 | 11,869,234 | 12,025,219 | RGD:7240710 | OMIM | ||
Cockayne Syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ercc6 | excision repair cross-complementing rodent repair deficiency, complementation group 6 |
|
ISS | 16 | 8,024,881 | 8,091,587 | RGD:7240710 | OMIM | ||
Congenital Hypothyroidism
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Bglap | bone gamma-carboxyglutamate (gla) protein |
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IED | 2 | 180,482,313 | 180,483,290 | RGD:6483557 | RGD | ||
| G | Duox2 | dual oxidase 2 |
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ISS | 3 | 109,059,360 | 109,077,106 | RGD:734905 | RGD | ||
| G | Pax8 | paired box 8 |
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ISS | 3 | 2,671,478 | 2,726,801 | RGD:1600298 | RGD | ||
| G | Slc5a5 | solute carrier family 5 (sodium iodide symporter), member 5 |
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ISS | 16 | 19,046,200 | 19,056,281 | RGD:1624273 | RGD | ||
| G | Tpo | thyroid peroxidase |
|
ISS | 6 | 47,954,848 | 48,025,740 | RGD:1599648 | RGD | ||
| G | Tshr | thyroid stimulating hormone receptor |
|
ISS | 6 | 115,024,999 | 115,162,531 | RGD:7240710 | OMIM | ||
Cranioectodermal Dysplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ift122 | intraflagellar transport 122 homolog (Chlamydomonas) |
|
ISS | 4 | 151,982,026 | 152,052,635 | RGD:7240710 | OMIM | ||
CRANIOECTODERMAL DYSPLASIA 2
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Wdr35 | WD repeat domain 35 |
|
ISS | 6 | 32,522,578 | 32,523,842 | RGD:7240710 | OMIM | ||
Craniofacial Dysostosis
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
Craniolenticulosutural Dysplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Sec23a | Sec23 homolog A (S. cerevisiae) |
|
ISS | 6 | 79,660,575 | 79,706,898 | RGD:7240710 | OMIM | ||
Craniosynostoses
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fbn1 | fibrillin 1 |
|
ISS | 3 | 112,608,480 | 112,804,118 | RGD:1601145 | RGD | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:6480630 | RGD | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:6480631 | RGD | ||
| G | Msx2 | msh homeobox 2 |
|
ISS | 17 | 17,243,262 | 17,248,927 | RGD:1600491 | RGD | ||
| G | Nell1 | NEL-like 1 (chicken) |
|
IPM | 1 | 99,805,922 | 100,758,002 | RGD:633405 | RGD | ||
Craniosynostosis radial aplasia syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Recql4 | RecQ protein-like 4 |
|
ISS | 7 | 114,752,863 | 114,760,027 | RGD:7240710 | OMIM | ||
Craniosynostosis, Type 2
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Msx2 | msh homeobox 2 |
|
ISS | 17 | 17,243,262 | 17,248,927 | RGD:7240710 | OMIM | ||
Crouzon Syndrome With Acanthosis Nigricans
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
Cutis Gyrata Syndrome of Beare And Stevenson
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
De Sanctis-Cacchione syndrome
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ercc6 | excision repair cross-complementing rodent repair deficiency, complementation group 6 |
|
ISS | 16 | 8,024,881 | 8,091,587 | RGD:7240710 | OMIM | ||
Desbuquois syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Cant1 | calcium activated nucleotidase 1 |
|
ISS | 10 | 108,405,355 | 108,420,225 | RGD:7240710 | OMIM | ||
Diastrophic dysplasia
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| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Slc26a2 | solute carrier family 26 (sulfate transporter), member 2 |
|
ISS | 18 | 57,170,814 | 57,184,489 | RGD:7240710 | OMIM | ||
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Por | P450 (cytochrome) oxidoreductase |
|
ISS | 12 | 22,078,629 | 22,097,301 | RGD:7240710 | OMIM | ||
Dwarfism
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Acan | aggrecan |
|
ISS | 1 | 134,787,341 | 134,848,992 | RGD:1300269 | RGD | ||
| G | Atr | ataxia telangiectasia and Rad3 related |
|
Susceptibility | ISS | 8 | 100,936,342 | 101,014,881 | RGD:1599404 | RGD | |
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
| G | Ctgf | connective tissue growth factor |
|
ISS | 1 | 21,327,099 | 21,330,215 | RGD:734846 | RGD | ||
| G | Gdf5 | growth differentiation factor 5 | ISS | RGD:704404 | RGD | ||||||
| G | Gdf5 | growth differentiation factor 5 | ISS | RGD:704404 | RGD | ||||||
| G | Ihh | Indian hedgehog |
|
ISS | 9 | 74,287,115 | 74,293,332 | RGD:1600033 | RGD | ||
| G | Pcsk1 | proprotein convertase subtilisin/kexin type 1 |
|
ISS | 2 | 1,923,309 | 1,970,238 | RGD:737721 | RGD | ||
| G | Tbce | tubulin folding cofactor E |
|
ISS | 17 | 59,485,451 | 59,533,041 | RGD:1599303 | RGD | ||
| G | Trim37 | tripartite motif-containing 37 |
|
ISS | 10 | 75,404,911 | 75,537,072 | RGD:1599667 | RGD | ||
| S | WIC-TgrdwKts | TAS | RGD:1302502 | RGD | |||||||
Dwarfism, Pituitary
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gh1 | growth hormone 1 |
|
ISS | 10 | 95,692,240 | 95,694,117 | RGD:1601313 | RGD | ||
| G | Gh1 | growth hormone 1 |
|
ISS | 10 | 95,692,240 | 95,694,117 | RGD:704404 | RGD | ||
| G | Ghr | growth hormone receptor |
|
ISS | 2 | 52,496,517 | 52,658,066 | RGD:1601315 | RGD | ||
| G | Ghrhr | growth hormone releasing hormone receptor |
|
IAGP | 4 | 84,135,530 | 84,148,503 | RGD:1601338 | RGD | ||
| G | Ghrhr | growth hormone releasing hormone receptor |
|
ISS | 4 | 84,135,530 | 84,148,503 | RGD:1601337 | RGD | ||
| G | Ghrhr | growth hormone releasing hormone receptor |
|
ISS | 4 | 84,135,530 | 84,148,503 | RGD:704404 | RGD | ||
| S | SDR/Slc | Spontaneous dwarf rat | Model | TAS | RGD:1578505 | RGD | |||||
Dyggve-Melchior-Clausen syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Dym | dymeclin |
|
ISS | 18 | 71,889,053 | 72,188,251 | RGD:7240710 | OMIM | ||
Dysostoses
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Dll3 | delta-like 3 (Drosophila) |
|
ISS | 1 | 83,373,482 | 83,381,219 | RGD:1599775 | RGD | ||
| G | Efnb1 | ephrin B1 |
|
ISS | X | 87,163,176 | 87,175,982 | RGD:1599802 | RGD | ||
Dyssegmental dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Hspg2 | heparan sulfate proteoglycan 2 | ISS | RGD:7240710 | OMIM | ||||||
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ikbkg | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
|
ISS | X | 160,386,558 | 160,420,190 | RGD:7240710 | OMIM | ||
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Pvrl4 | poliovirus receptor-related 4 |
|
ISS | 13 | 87,275,975 | 87,294,493 | RGD:7240710 | OMIM | ||
Ellis-Van Creveld Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Evc | Ellis van Creveld syndrome |
|
ISS | 14 | 79,020,120 | 79,060,046 | RGD:1302823 | RGD | ||
| G | Evc | Ellis van Creveld syndrome |
|
ISS | 14 | 79,020,120 | 79,060,046 | RGD:7240710 | OMIM | ||
| G | Evc2 | Ellis van Creveld syndrome 2 |
|
Susceptibility | ISS | 14 | 78,915,869 | 79,018,416 | RGD:1600212 | RGD | |
| G | Evc2 | Ellis van Creveld syndrome 2 |
|
ISS | 14 | 78,915,869 | 79,018,416 | RGD:7240710 | OMIM | ||
Epiphyseal dysplasia, multiple, 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Comp | cartilage oligomeric matrix protein | ISS | RGD:7240710 | OMIM | ||||||
Epiphyseal dysplasia, multiple, 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col9a2 | collagen, type IX, alpha 2 |
|
ISS | 5 | 141,623,365 | 141,640,224 | RGD:7240710 | OMIM | ||
Epiphyseal dysplasia, multiple, 3
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col9a3 | collagen, type IX, alpha 3 |
|
ISS | 3 | 169,704,893 | 169,712,492 | RGD:7240710 | OMIM | ||
Epiphyseal dysplasia, multiple, 4
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Slc26a2 | solute carrier family 26 (sulfate transporter), member 2 |
|
ISS | 18 | 57,170,814 | 57,184,489 | RGD:7240710 | OMIM | ||
Epiphyseal dysplasia, multiple, 5
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Matn3 | matrilin 3 |
|
ISS | 6 | 32,439,372 | 32,459,031 | RGD:7240710 | OMIM | ||
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Exostoses, Multiple Hereditary
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ext1 | exostosin glycosyltransferase 1 |
|
ISS | 7 | 89,392,837 | 89,671,523 | RGD:1598916 | RGD | ||
EXOSTOSES, MULTIPLE, TYPE I
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ext1 | exostosin glycosyltransferase 1 |
|
ISS | 7 | 89,392,837 | 89,671,523 | RGD:7240710 | OMIM | ||
EXOSTOSES, MULTIPLE, TYPE II
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ext2 | exostosin glycosyltransferase 2 |
|
ISS | 3 | 78,111,436 | 78,244,444 | RGD:7240710 | OMIM | ||
Fairbank disease
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Comp | cartilage oligomeric matrix protein | ISS | RGD:7240710 | OMIM | ||||||
Fibrous Dysplasia, Polyostotic
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gnas | GNAS complex locus |
|
ISS | 3 | 165,213,399 | 165,214,551 | RGD:1580402 | RGD | ||
| G | Gnas | GNAS complex locus |
|
ISS | 3 | 165,213,399 | 165,214,551 | RGD:1601378 | RGD | ||
| G | Gnas | GNAS complex locus |
|
ISS | 3 | 165,213,399 | 165,214,551 | RGD:7240710 | OMIM | ||
Focal Dermal Hypoplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Porcn | porcupine homolog (Drosophila) |
|
ISS | X | 26,317,388 | 26,330,177 | RGD:7240710 | OMIM | ||
Freeman-Sheldon syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Myh3 | myosin, heavy chain 3, skeletal muscle, embryonic |
|
ISS | 10 | 53,776,858 | 53,800,677 | RGD:7240710 | OMIM | ||
Frontometaphyseal dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flna | filamin A, alpha |
|
ISS | X | 160,362,334 | 160,385,626 | RGD:7240710 | OMIM | ||
FRONTONASAL DYSPLASIA 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Alx3 | ALX homeobox 3 |
|
ISS | 2 | 203,156,009 | 203,157,503 | RGD:7240710 | OMIM | ||
FRONTONASAL DYSPLASIA 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Alx4 | ALX homeobox 4 |
|
ISS | 3 | 78,057,714 | 78,094,285 | RGD:7240710 | OMIM | ||
FRONTONASAL DYSPLASIA 3
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Alx1 | ALX homeobox 1 |
|
ISS | 7 | 41,090,481 | 41,110,281 | RGD:7240710 | OMIM | ||
GELEOPHYSIC DYSPLASIA 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Adamtsl2 | ADAMTS-like 2 |
|
ISS | 3 | 5,976,490 | 6,004,532 | RGD:7240710 | OMIM | ||
Gerodermia osteodysplastica
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gorab | golgin, RAB6-interacting |
|
ISS | 13 | 79,103,916 | 79,120,536 | RGD:7240710 | OMIM | ||
Ghosal Hematodiaphyseal Dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tbxas1 | thromboxane A synthase 1, platelet |
|
ISS | 4 | 66,502,253 | 66,677,538 | RGD:7240710 | OMIM | ||
Gigantism
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| S | WIC-Tg(Wap-GH1)1Mni | TAS | RGD:1302502 | RGD | |||||||
Greig cephalopolysyndactyly syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gli3 | GLI family zinc finger 3 |
|
ISS | 17 | 57,594,102 | 57,867,710 | RGD:7240710 | OMIM | ||
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Stat5b | signal transducer and activator of transcription 5B |
|
ISS | 10 | 89,716,624 | 89,743,134 | RGD:7240710 | OMIM | ||
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fto | fat mass and obesity associated |
|
ISS | 19 | 16,514,746 | 16,858,800 | RGD:7240710 | OMIM | ||
Hallermann's Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gja1 | gap junction protein, alpha 1 |
|
ISS | 20 | 35,409,815 | 35,422,262 | RGD:7240710 | OMIM | ||
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lbr | lamin B receptor |
|
ISS | 13 | 97,814,439 | 97,834,860 | RGD:7240710 | OMIM | ||
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lrp5 | low density lipoprotein receptor-related protein 5 |
|
ISS | 1 | 206,102,750 | 206,206,350 | RGD:7240710 | OMIM | ||
Hyperostosis, Cortical, Congenital
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col1a1 | collagen, type I, alpha 1 |
|
ISS | 10 | 83,622,438 | 83,639,368 | RGD:5688296 | RGD | ||
| G | Col1a1 | collagen, type I, alpha 1 |
|
ISS | 10 | 83,622,438 | 83,639,368 | RGD:7240710 | OMIM | ||
| G | Sost | sclerostin |
|
ISS | 10 | 91,023,712 | 91,026,759 | RGD:68858 | RGD | ||
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Pigv | phosphatidylinositol glycan anchor biosynthesis, class V |
|
ISS | 5 | 151,404,858 | 151,416,748 | RGD:7240710 | OMIM | ||
Hypochondroplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Btk | Bruton agammaglobulinemia tyrosine kinase |
|
ISS | X | 121,998,935 | 122,030,289 | RGD:7240710 | OMIM | ||
Hypoparathyroidism-retardation-dysmorphism syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tbce | tubulin folding cofactor E |
|
ISS | 17 | 59,485,451 | 59,533,041 | RGD:7240710 | OMIM | ||
Hypothyroidism, Congenital, Nongoitrous, 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Pax8 | paired box 8 |
|
ISS | 3 | 2,671,478 | 2,726,801 | RGD:7240710 | OMIM | ||
Hypothyroidism, Congenital, Nongoitrous, 4
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tshb | thyroid stimulating hormone, beta |
|
ISS | 2 | 197,908,308 | 197,913,186 | RGD:7240710 | OMIM | ||
Hypothyroidism, Congenital, Nongoitrous, 5
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Nkx2-5 | NK2 homeobox 5 |
|
ISS | 10 | 16,606,183 | 16,608,952 | RGD:7240710 | OMIM | ||
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Cdkn1c | cyclin-dependent kinase inhibitor 1C |
|
ISS | 1 | 203,835,215 | 203,837,844 | RGD:7240710 | OMIM | ||
Ischiopatellar dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tbx4 | T-box 4 |
|
ISS | 10 | 74,136,416 | 74,166,080 | RGD:7240710 | OMIM | ||
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gh1 | growth hormone 1 |
|
ISS | 10 | 95,692,240 | 95,694,117 | RGD:7240710 | OMIM | ||
Isolated Growth Hormone Deficiency, Type IB
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gh1 | growth hormone 1 |
|
ISS | 10 | 95,692,240 | 95,694,117 | RGD:7240710 | OMIM | ||
| G | Ghrhr | growth hormone releasing hormone receptor |
|
ISS | 4 | 84,135,530 | 84,148,503 | RGD:7240710 | OMIM | ||
Isolated Growth Hormone Deficiency, Type II
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gh1 | growth hormone 1 |
|
ISS | 10 | 95,692,240 | 95,694,117 | RGD:7240710 | OMIM | ||
Jackson-Weiss syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr1 | Fibroblast growth factor receptor 1 |
|
ISS | 16 | 70,869,974 | 70,910,045 | RGD:7240710 | OMIM | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
Kenny-Caffey syndrome, Type 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tbce | tubulin folding cofactor E |
|
ISS | 17 | 59,485,451 | 59,533,041 | RGD:7240710 | OMIM | ||
Keratosis palmoplantaris with periodontopathia and onychogryposis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ctsc | cathepsin C |
|
ISS | 1 | 144,629,802 | 144,661,183 | RGD:7240710 | OMIM | ||
Klippel Feil syndrome dominant type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gdf6 | growth differentiation factor 6 |
|
ISS | 5 | 23,739,175 | 23,756,140 | RGD:7240710 | OMIM | ||
Klippel Feil syndrome recessive type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Meox1 | mesenchyme homeobox 1 |
|
ISS | 10 | 90,921,589 | 90,942,298 | RGD:7240710 | OMIM | ||
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gdf3 | growth differentiation factor 3 |
|
ISS | 4 | 159,064,054 | 159,067,854 | RGD:7240710 | OMIM | ||
Kniest dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Kowarski syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gh1 | growth hormone 1 |
|
ISS | 10 | 95,692,240 | 95,694,117 | RGD:7240710 | OMIM | ||
Lacrimoauriculodentodigital syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgf10 | fibroblast growth factor 10 |
|
ISS | 2 | 50,866,799 | 50,940,319 | RGD:7240710 | OMIM | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
Laron Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ghr | growth hormone receptor |
|
ISS | 2 | 52,496,517 | 52,658,066 | RGD:7240710 | OMIM | ||
Larsen syndrome, dominant type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flnb | filamin B, beta |
|
ISS | 15 | 18,949,027 | 19,082,504 | RGD:7240710 | OMIM | ||
| G | Sct | secretin |
|
ISS | 1 | 201,472,250 | 201,472,944 | RGD:7240710 | OMIM | ||
Lujan Fryns syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Med12 | mediator complex subunit 12 |
|
ISS | X | 89,351,546 | 89,374,489 | RGD:7240710 | OMIM | ||
Mandibuloacral dysplasia with type A lipodystrophy
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lmna | lamin A/C |
|
ISS | 2 | 180,595,724 | 180,616,354 | RGD:7240710 | OMIM | ||
Mandibulofacial Dysostosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Acpp | acid phosphatase, prostate |
|
ISS | 8 | 109,354,381 | 109,400,296 | RGD:1300346 | RGD | ||
| G | Edn1 | endothelin 1 |
|
ISS | 17 | 28,303,886 | 28,309,775 | RGD:734913 | RGD | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:704404 | RGD | ||
| G | Tcof1 | Treacher Collins-Franceschetti syndrome 1 |
|
ISS | 18 | 56,766,742 | 56,800,908 | RGD:1599379 | RGD | ||
| G | Tcof1 | Treacher Collins-Franceschetti syndrome 1 |
|
ISS | 18 | 56,766,742 | 56,800,908 | RGD:7240710 | OMIM | ||
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Polr1c | polymerase (RNA) I polypeptide C |
|
ISS | 9 | 10,298,309 | 10,302,421 | RGD:7240710 | OMIM | ||
Marfan Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fbn1 | fibrillin 1 |
|
ISS | 3 | 112,608,480 | 112,804,118 | RGD:1580378 | RGD | ||
| G | Fbn1 | fibrillin 1 |
|
ISS | 3 | 112,608,480 | 112,804,118 | RGD:1300361 | RGD | ||
| G | Fbn1 | fibrillin 1 |
|
ISS | 3 | 112,608,480 | 112,804,118 | RGD:7240710 | OMIM | ||
| G | Fbn2 | fibrillin 2 |
|
ISS | 18 | 53,883,011 | 53,914,001 | RGD:1300364 | RGD | ||
| G | Lamb1 | laminin, beta 1 |
|
ISS | 6 | 49,115,671 | 49,183,374 | RGD:7240710 | OMIM | ||
| G | Mmp12 | matrix metallopeptidase 12 |
|
Spontaneous | ISS | 8 | 4,249,938 | 4,259,675 | RGD:1582351 | RGD | |
| G | Mmp14 | matrix metallopeptidase 14 (membrane-inserted) |
|
ISS | 15 | 32,493,852 | 32,503,077 | RGD:1582351 | RGD | ||
| G | Tgfbr1 | transforming growth factor, beta receptor 1 |
|
ISS | 5 | 63,976,868 | 64,034,058 | RGD:2299005 | RGD | ||
| G | Tgfbr2 | transforming growth factor, beta receptor II |
|
Susceptibility | ISS | 8 | 120,593,595 | 120,680,453 | RGD:1579928 | RGD | |
| G | Tgfbr2 | transforming growth factor, beta receptor II |
|
ISS | 8 | 120,593,595 | 120,680,453 | RGD:2299005 | RGD | ||
Marshall syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col11a1 | collagen, type XI, alpha 1 |
|
ISS | 2 | 209,996,467 | 210,193,379 | RGD:7240710 | OMIM | ||
Melorheostosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lemd3 | LEM domain containing 3 |
|
ISS | 7 | 60,232,118 | 60,281,459 | RGD:7240710 | OMIM | ||
Metachondromatosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ptpn11 | protein tyrosine phosphatase, non-receptor type 11 |
|
ISS | 12 | 36,501,886 | 36,558,055 | RGD:7240710 | OMIM | ||
Metaphyseal Anadysplasia 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Mmp9 | matrix metallopeptidase 9 |
|
ISS | 3 | 155,985,473 | 155,993,433 | RGD:7240710 | OMIM | ||
Metaphyseal chondrodysplasia Schmid type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col10a1 | collagen, type X, alpha 1 |
|
ISS | 20 | 38,725,164 | 38,731,513 | RGD:7240710 | OMIM | ||
Metaphyseal Dysplasia without Hypotrichosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Rmrp | RNA component of mitochondrial RNA processing endoribonuclease |
|
ISS | 15 | 26,789,869 | 26,790,125 | RGD:7240710 | OMIM | ||
Metatropic dwarfism
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trpv4 | transient receptor potential cation channel, subfamily V, member 4 |
|
ISS | 12 | 43,226,933 | 43,265,889 | RGD:7240710 | OMIM | ||
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Pcnt | pericentrin |
|
ISS | 20 | 12,608,650 | 12,694,390 | RGD:7240710 | OMIM | ||
Muenke Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
Mulibrey Nanism
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trim37 | tripartite motif-containing 37 |
|
ISS | 10 | 75,404,911 | 75,537,072 | RGD:7240710 | OMIM | ||
Multiple synostoses syndrome 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Nog | noggin |
|
ISS | 10 | 77,689,244 | 77,690,871 | RGD:7240710 | OMIM | ||
Multiple synostoses syndrome 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gdf5 | growth differentiation factor 5 | ISS | RGD:7240710 | OMIM | ||||||
Multiple Synostoses Syndrome 3
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgf9 | fibroblast growth factor 9 |
|
ISS | 15 | 37,115,068 | 37,155,652 | RGD:7240710 | OMIM | ||
Oculodentodigital Dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gja1 | gap junction protein, alpha 1 |
|
ISS | 20 | 35,409,815 | 35,422,262 | RGD:7240710 | OMIM | ||
Oculodentodigital Dysplasia, Autosomal Recessive
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gja1 | gap junction protein, alpha 1 |
|
ISS | 20 | 35,409,815 | 35,422,262 | RGD:7240710 | OMIM | ||
Opitz GBBB Syndrome, X-Linked
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Mid1 | midline 1 (Opitz/BBB syndrome) |
|
ISS | X | 44,751,950 | 44,879,999 | RGD:7240710 | OMIM | ||
Orofaciodigital syndrome type1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ofd1 | oral-facial-digital syndrome 1 |
|
ISS | X | 48,701,675 | 48,742,443 | RGD:7240710 | OMIM | ||
Orofaciodigital Syndromes
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ofd1 | oral-facial-digital syndrome 1 |
|
ISS | X | 48,701,675 | 48,742,443 | RGD:7240710 | OMIM | ||
Osteoarthritis with Mild Chondrodysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Osteochondrodysplasias
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Bmpr1b | bone morphogenetic protein receptor, type IB |
|
ISS | 2 | 239,727,569 | 239,767,802 | RGD:1600593 | RGD | ||
| G | Chst3 | carbohydrate (chondroitin 6) sulfotransferase 3 |
|
ISS | 20 | 27,480,448 | 27,482,990 | RGD:1600853 | RGD | ||
| G | Col10a1 | collagen, type X, alpha 1 |
|
Susceptibility | ISS | 20 | 38,725,164 | 38,731,513 | RGD:1600880 | RGD | |
| G | Col11a2 | collagen, type XI, alpha 2 |
|
Susceptibility | ISS | 20 | 4,924,452 | 4,953,310 | RGD:1600883 | RGD | |
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:704404 | RGD | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
| G | Col9a1 | collagen, type IX, alpha 1 |
|
Susceptibility | ISS | 9 | 22,907,157 | 22,990,836 | RGD:1600949 | RGD | |
| G | Col9a1 | collagen, type IX, alpha 1 |
|
ISS | 9 | 22,907,157 | 22,990,836 | RGD:7240710 | OMIM | ||
| G | Col9a2 | collagen, type IX, alpha 2 |
|
Susceptibility | ISS | 5 | 141,623,365 | 141,640,224 | RGD:1600952 | RGD | |
| G | Col9a3 | collagen, type IX, alpha 3 |
|
ISS | 3 | 169,704,893 | 169,712,492 | RGD:1600695 | RGD | ||
| G | Comp | cartilage oligomeric matrix protein | ISS | RGD:1600702 | RGD | ||||||
| G | Comp | cartilage oligomeric matrix protein | ISS | RGD:1600705 | RGD | ||||||
| G | Dym | dymeclin |
|
ISS | 18 | 71,889,053 | 72,188,251 | RGD:1598787 | RGD | ||
| G | Eif2ak3 | eukaryotic translation initiation factor 2 alpha kinase 3 |
|
ISS | 4 | 104,016,940 | 104,078,261 | RGD:734923 | RGD | ||
| G | Flna | filamin A, alpha |
|
ISS | X | 160,362,334 | 160,385,626 | RGD:1598954 | RGD | ||
| G | Flna | filamin A, alpha |
|
ISS | X | 160,362,334 | 160,385,626 | RGD:7240710 | OMIM | ||
| G | Flnb | filamin B, beta |
|
ISS | 15 | 18,949,027 | 19,082,504 | RGD:1601168 | RGD | ||
| G | Hapln1 | hyaluronan and proteoglycan link protein 1 |
|
ISS | 2 | 19,576,064 | 19,638,106 | RGD:734826 | RGD | ||
| G | Hspg2 | heparan sulfate proteoglycan 2 | ISS | RGD:7240710 | OMIM | ||||||
| G | Hspg2 | heparan sulfate proteoglycan 2 | Susceptibility | ISS | RGD:1624267 | RGD | |||||
| G | Lifr | leukemia inhibitory factor receptor alpha |
|
ISS | 2 | 56,426,058 | 56,477,198 | RGD:1600614 | RGD | ||
| G | Matn3 | matrilin 3 |
|
ISS | 6 | 32,439,372 | 32,459,031 | RGD:1599920 | RGD | ||
| G | Matn3 | matrilin 3 |
|
ISS | 6 | 32,439,372 | 32,459,031 | RGD:1599919 | RGD | ||
| G | Pth1r | parathyroid hormone 1 receptor |
|
Susceptibility | ISS | 8 | 115,099,763 | 115,119,362 | RGD:1599978 | RGD | |
| G | Slc26a2 | solute carrier family 26 (sulfate transporter), member 2 |
|
IAGP | 18 | 57,170,814 | 57,184,489 | RGD:1600010 | RGD | ||
| G | Smarcal1 | Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
|
ISS | 9 | 71,780,870 | 71,827,780 | RGD:1599053 | RGD | ||
| G | Sost | sclerostin |
|
ISS | 10 | 91,023,712 | 91,026,759 | RGD:7240710 | OMIM | ||
| G | Tgfb1 | transforming growth factor, beta 1 |
|
Susceptibility | ISS | 1 | 80,894,705 | 80,911,020 | RGD:1601550 | RGD | |
| G | Tgfb2 | transforming growth factor, beta 2 |
|
IEP | 13 | 102,718,703 | 102,818,768 | RGD:2302024 | RGD | ||
| G | Tgfbr1 | transforming growth factor, beta receptor 1 |
|
IPM | 5 | 63,976,868 | 64,034,058 | RGD:2302024 | RGD | ||
| G | Trps1 | trichorhinophalangeal syndrome I |
|
ISS | 7 | 86,855,378 | 87,076,668 | RGD:1599670 | RGD | ||
Osteogenesis Imperfecta
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col1a1 | collagen, type I, alpha 1 |
|
ISS | 10 | 83,622,438 | 83,639,368 | RGD:734802 | RGD | ||
| G | Col1a1 | collagen, type I, alpha 1 |
|
ISS | 10 | 83,622,438 | 83,639,368 | RGD:7240710 | OMIM | ||
| G | Col1a2 | collagen, type I, alpha 2 |
|
ISS | 4 | 29,393,645 | 29,428,572 | RGD:1581197 | RGD | ||
| G | Col1a2 | collagen, type I, alpha 2 |
|
ISS | 4 | 29,393,645 | 29,428,572 | RGD:704404 | RGD | ||
Osteogenesis imperfecta, type 2A
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col1a1 | collagen, type I, alpha 1 |
|
ISS | 10 | 83,622,438 | 83,639,368 | RGD:7240710 | OMIM | ||
| G | Col1a2 | collagen, type I, alpha 2 |
|
ISS | 4 | 29,393,645 | 29,428,572 | RGD:7240710 | OMIM | ||
Osteogenesis imperfecta, type 3
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col1a1 | collagen, type I, alpha 1 |
|
ISS | 10 | 83,622,438 | 83,639,368 | RGD:7240710 | OMIM | ||
| G | Col1a2 | collagen, type I, alpha 2 |
|
ISS | 4 | 29,393,645 | 29,428,572 | RGD:7240710 | OMIM | ||
Osteogenesis imperfecta, type 4
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col1a1 | collagen, type I, alpha 1 |
|
ISS | 10 | 83,622,438 | 83,639,368 | RGD:7240710 | OMIM | ||
| G | Col1a2 | collagen, type I, alpha 2 |
|
ISS | 4 | 29,393,645 | 29,428,572 | RGD:7240710 | OMIM | ||
Osteogenesis imperfecta, type 5
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ifitm5 | interferon induced transmembrane protein 5 |
|
ISS | 1 | 201,128,654 | 201,129,995 | RGD:7240710 | OMIM | ||
Osteogenesis imperfecta, type 7
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Crtap | cartilage associated protein |
|
ISS | 8 | 118,765,925 | 118,773,673 | RGD:7240710 | OMIM | ||
Osteogenesis Imperfecta, Type IX
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ppib | peptidylprolyl isomerase B |
|
ISS | 8 | 70,343,463 | 70,349,320 | RGD:7240710 | OMIM | ||
Osteogenesis imperfecta, type VIII
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lepre1 | leucine proline-enriched proteoglycan (leprecan) 1 |
|
ISS | 5 | 139,816,323 | 139,831,409 | RGD:7240710 | OMIM | ||
Osteoglophonic dwarfism
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr1 | Fibroblast growth factor receptor 1 |
|
ISS | 16 | 70,869,974 | 70,910,045 | RGD:7240710 | OMIM | ||
Osteopetrosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ca2 | carbonic anhydrase 2 |
|
Susceptibility | ISS | 2 | 88,077,095 | 88,092,223 | RGD:1600698 | RGD | |
| G | Clcn7 | chloride channel, voltage-sensitive 7 |
|
ISS | 10 | 14,379,803 | 14,403,898 | RGD:737783 | RGD | ||
| G | Clcn7 | chloride channel, voltage-sensitive 7 |
|
ISS | 10 | 14,379,803 | 14,403,898 | RGD:704404 | RGD | ||
| G | Clcn7 | chloride channel, voltage-sensitive 7 |
|
ISS | 10 | 14,379,803 | 14,403,898 | RGD:7240710 | OMIM | ||
| G | Csf1 | colony stimulating factor 1 (macrophage) |
|
IAGP | 2 | 203,292,765 | 203,307,968 | RGD:628338 | RGD | ||
| G | Ctsk | cathepsin K |
|
ISS | 2 | 190,394,854 | 190,405,668 | RGD:734856 | RGD | ||
| G | Fos | FBJ osteosarcoma oncogene |
|
ISS | 6 | 109,559,135 | 109,562,001 | RGD:704404 | RGD | ||
| G | Fosl1 | fos-like antigen 1 |
|
ISS | 1 | 208,090,612 | 208,099,118 | RGD:737712 | RGD | ||
| G | Ghr | growth hormone receptor |
|
IEP | 2 | 52,496,517 | 52,658,066 | RGD:2307374 | RGD | ||
| G | Jun | jun proto-oncogene |
|
ISS | 5 | 115,358,166 | 115,361,259 | RGD:1549450 | RGD | ||
| G | Tcirg1 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
|
ISS | 1 | 206,420,106 | 206,429,495 | RGD:1599350 | RGD | ||
| Q | Bss98 | Bone structure and strength QTL 98 |
|
IAGP | 15 | 1,007,318 | 16,365,960 | RGD:5684953 | RGD | ||
| Q | Bss99 | Bone structure and strength QTL 99 | IAGP | RGD:5684953 | RGD | ||||||
| S | LEW-tl.BN-(D2Arb16-D2Wox8) |
|
TAS | 2 | 198,312,439 | 212,776,982 | RGD:1004 | RGD | |||
| S | LEW-tl.BN-(D2Arb16-D2Wox8) |
|
TAS | 2 | 198,312,439 | 212,776,982 | RGD:619693 | RGD | |||
Osteopetrosis autosomal dominant type 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lrp5 | low density lipoprotein receptor-related protein 5 |
|
ISS | 1 | 206,102,750 | 206,206,350 | RGD:7240710 | OMIM | ||
Osteopetrosis with renal tubular acidosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ca2 | carbonic anhydrase 2 |
|
ISS | 2 | 88,077,095 | 88,092,223 | RGD:7240710 | OMIM | ||
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Clcn7 | chloride channel, voltage-sensitive 7 |
|
ISS | 10 | 14,379,803 | 14,403,898 | RGD:7240710 | OMIM | ||
Osteopetrosis, Autosomal Recessive 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tcirg1 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 |
|
ISS | 1 | 206,420,106 | 206,429,495 | RGD:7240710 | OMIM | ||
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tnfsf11 | tumor necrosis factor (ligand) superfamily, member 11 |
|
ISS | 15 | 59,397,837 | 59,428,014 | RGD:7240710 | OMIM | ||
Osteopetrosis, Autosomal Recessive 6
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Plekhm1 | pleckstrin homology domain containing, family M (with RUN domain) member 1 |
|
ISS | 10 | 92,555,565 | 92,603,324 | RGD:7240710 | OMIM | ||
Osteopetrosis, Autosomal Recessive 7
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tnfrsf11a | tumor necrosis factor receptor superfamily, member 11a, NFKB activator |
|
ISS | 13 | 11,958,002 | 12,014,371 | RGD:7240710 | OMIM | ||
Osteoporosis-pseudoglioma syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lrp5 | low density lipoprotein receptor-related protein 5 |
|
ISS | 1 | 206,102,750 | 206,206,350 | RGD:7240710 | OMIM | ||
Oto-Palato-digital syndrome type 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flna | filamin A, alpha |
|
ISS | X | 160,362,334 | 160,385,626 | RGD:7240710 | OMIM | ||
Oto-palato-digital syndrome, type 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flna | filamin A, alpha |
|
ISS | X | 160,362,334 | 160,385,626 | RGD:7240710 | OMIM | ||
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col11a2 | collagen, type XI, alpha 2 |
|
ISS | 20 | 4,924,452 | 4,953,310 | RGD:7240710 | OMIM | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Parastremmatic dwarfism
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trpv4 | transient receptor potential cation channel, subfamily V, member 4 |
|
ISS | 12 | 43,226,933 | 43,265,889 | RGD:7240710 | OMIM | ||
Parietal Foramina With Cleidocranial Dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Msx2 | msh homeobox 2 |
|
ISS | 17 | 17,243,262 | 17,248,927 | RGD:7240710 | OMIM | ||
Pfeiffer type acrocephalosyndactyly
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr1 | Fibroblast growth factor receptor 1 |
|
ISS | 16 | 70,869,974 | 70,910,045 | RGD:7240710 | OMIM | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
Pierre Robin syndrome with fetal chondrodysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col11a2 | collagen, type XI, alpha 2 |
|
ISS | 20 | 4,924,452 | 4,953,310 | RGD:7240710 | OMIM | ||
Pituitary Hormone Deficiency, Combined, 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Prop1 | PROP paired-like homeobox 1 |
|
ISS | 10 | 36,527,112 | 36,529,573 | RGD:7240710 | OMIM | ||
Pituitary Hormone Deficiency, Combined, 4
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lhx4 | LIM homeobox 4 |
|
ISS | 13 | 70,669,765 | 70,718,978 | RGD:7240710 | OMIM | ||
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trem2 | triggering receptor expressed on myeloid cells 2 |
|
ISS | 9 | 8,059,023 | 8,065,585 | RGD:7240710 | OMIM | ||
| G | Tyrobp | Tyro protein tyrosine kinase binding protein |
|
ISS | 1 | 85,365,371 | 85,369,224 | RGD:7240710 | OMIM | ||
POLYDACTYLY, PREAXIAL II
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lmbr1 | limb region 1 homolog (mouse) |
|
ISS | 4 | 1,177,941 | 1,344,583 | RGD:7240710 | OMIM | ||
Popliteal Pterygium Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Irf6 | interferon regulatory factor 6 |
|
ISS | 13 | 108,986,973 | 109,006,180 | RGD:7240710 | OMIM | ||
Proteus Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Akt1 | v-akt murine thymoma viral oncogene homolog 1 |
|
ISS | 6 | 137,640,482 | 137,657,552 | RGD:5509063 | RGD | ||
| G | Akt1 | v-akt murine thymoma viral oncogene homolog 1 |
|
ISS | 6 | 137,640,482 | 137,657,552 | RGD:7240710 | OMIM | ||
Pseudoachondroplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Comp | cartilage oligomeric matrix protein | ISS | RGD:7240710 | OMIM | ||||||
PSEUDOHYPOPARATHYROIDISM, TYPE IA
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gnas | GNAS complex locus |
|
ISS | 3 | 165,213,399 | 165,214,551 | RGD:7240710 | OMIM | ||
Pycnodysostosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ctsk | cathepsin K |
|
ISS | 2 | 190,394,854 | 190,405,668 | RGD:7240710 | OMIM | ||
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Hoxa11 | homeobox A11 |
|
ISS | 4 | 80,542,417 | 80,546,079 | RGD:7240710 | OMIM | ||
Raine syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fam20c | family with sequence similarity 20, member C |
|
ISS | 12 | 16,340,407 | 16,399,325 | RGD:7240710 | OMIM | ||
Rapadilino syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Recql4 | RecQ protein-like 4 |
|
ISS | 7 | 114,752,863 | 114,760,027 | RGD:7240710 | OMIM | ||
Rhizomelic chondrodysplasia punctata, type 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Pex7 | peroxisomal biogenesis factor 7 |
|
ISS | 1 | 15,099,265 | 15,163,734 | RGD:7240710 | OMIM | ||
Rhizomelic chondrodysplasia punctata, type 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gnpat | glyceronephosphate O-acyltransferase |
|
ISS | 19 | 55,033,777 | 55,059,491 | RGD:7240710 | OMIM | ||
Rhizomelic chondrodysplasia punctata, type 3
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Agps | alkylglycerone phosphate synthase | ISS | RGD:7240710 | OMIM | ||||||
Roberts Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Esco2 | establishment of cohesion 1 homolog 2 (S. cerevisiae) |
|
ISS | 15 | 45,239,871 | 45,254,898 | RGD:7240710 | OMIM | ||
Rubinstein-Taybi Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Crebbp | CREB binding protein |
|
ISS | 10 | 11,598,680 | 11,724,122 | RGD:734820 | RGD | ||
| G | Crebbp | CREB binding protein |
|
ISS | 10 | 11,598,680 | 11,724,122 | RGD:7240710 | OMIM | ||
| G | Ep300 | E1A binding protein p300 |
|
ISS | 7 | 119,938,507 | 120,008,886 | RGD:1580966 | RGD | ||
| G | Ep300 | E1A binding protein p300 |
|
ISS | 7 | 119,938,507 | 120,008,886 | RGD:7240710 | OMIM | ||
Scaphocephaly, Maxillary Retrusion, And Mental Retardation
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr2 | fibroblast growth factor receptor 2 |
|
ISS | 1 | 189,482,975 | 189,589,279 | RGD:7240710 | OMIM | ||
Schimke immunoosseous dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Smarcal1 | Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
|
ISS | 9 | 71,780,870 | 71,827,780 | RGD:7240710 | OMIM | ||
Schneckenbecken dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Slc35d1 | solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 |
|
ISS | 5 | 124,107,948 | 124,154,018 | RGD:7240710 | OMIM | ||
Sclerosteosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Sost | sclerostin |
|
ISS | 10 | 91,023,712 | 91,026,759 | RGD:7240710 | OMIM | ||
Seckel syndrome 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Atr | ataxia telangiectasia and Rad3 related |
|
ISS | 8 | 100,936,342 | 101,014,881 | RGD:7240710 | OMIM | ||
Seckel syndrome 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Rbbp8 | retinoblastoma binding protein 8 |
|
ISS | 18 | 3,266,565 | 3,333,153 | RGD:7240710 | OMIM | ||
SECKEL SYNDROME 4
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Cenpj | centromere protein J |
|
ISS | 15 | 35,487,198 | 35,550,034 | RGD:7240710 | OMIM | ||
Short Rib-Polydactyly Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 |
|
ISS | 8 | 3,826,843 | 4,072,644 | RGD:7240710 | OMIM | ||
| G | Nek1 | NIMA-related kinase 1 |
|
ISS | 16 | 32,317,987 | 32,438,010 | RGD:7240710 | OMIM | ||
Short rib-polydactyly syndrome, Verma-Naumoff type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 |
|
ISS | 8 | 3,826,843 | 4,072,644 | RGD:7240710 | OMIM | ||
Short Stature, Idiopathic, Autosomal
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ghr | growth hormone receptor |
|
ISS | 2 | 52,496,517 | 52,658,066 | RGD:7240710 | OMIM | ||
| G | Ghsr | growth hormone secretagogue receptor |
|
ISS | 2 | 113,269,623 | 113,272,999 | RGD:7240710 | OMIM | ||
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gpc3 | glypican 3 |
|
ISS | X | 139,192,115 | 139,560,649 | RGD:7240710 | OMIM | ||
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Zbtb16 | zinc finger and BTB domain containing 16 |
|
ISS | 8 | 51,931,530 | 52,094,813 | RGD:7240710 | OMIM | ||
Smith-McCort Dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Dym | dymeclin |
|
ISS | 18 | 71,889,053 | 72,188,251 | RGD:7240710 | OMIM | ||
Spondylocarpotarsal synostosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Flnb | filamin B, beta |
|
ISS | 15 | 18,949,027 | 19,082,504 | RGD:7240710 | OMIM | ||
| G | Sct | secretin |
|
ISS | 1 | 201,472,250 | 201,472,944 | RGD:7240710 | OMIM | ||
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Slc39a13 | solute carrier family 39 (zinc transporter), member 13 |
|
ISS | 3 | 75,421,153 | 75,429,058 | RGD:7240710 | OMIM | ||
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Dll3 | delta-like 3 (Drosophila) |
|
ISS | 1 | 83,373,482 | 83,381,219 | RGD:7240710 | OMIM | ||
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Mesp2 | mesoderm posterior 2 homolog (mouse) |
|
ISS | 1 | 135,590,020 | 135,592,626 | RGD:7240710 | OMIM | ||
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lfng | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
|
ISS | 12 | 14,497,704 | 14,505,723 | RGD:7240710 | OMIM | ||
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Hes7 | hairy and enhancer of split 7 (Drosophila) |
|
ISS | 10 | 55,879,891 | 55,882,414 | RGD:7240710 | OMIM | ||
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Acan | aggrecan |
|
ISS | 1 | 134,787,341 | 134,848,992 | RGD:7240710 | OMIM | ||
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Matn3 | matrilin 3 |
|
ISS | 6 | 32,439,372 | 32,459,031 | RGD:7240710 | OMIM | ||
Spondyloepimetaphyseal Dysplasia, Missouri Type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Mmp13 | matrix metallopeptidase 13 |
|
ISS | 8 | 4,158,887 | 4,169,166 | RGD:7240710 | OMIM | ||
Spondyloepimetaphyseal Dysplasia, Pakistani Type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Papss2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
|
ISS | 1 | 236,592,414 | 236,677,379 | RGD:7240710 | OMIM | ||
Spondyloepiphyseal Dysplasia Tarda, X-Linked
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trappc2 | trafficking protein particle complex 2 |
|
ISS | X | 48,690,381 | 48,701,588 | RGD:7240710 | OMIM | ||
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Chst3 | carbohydrate (chondroitin 6) sulfotransferase 3 |
|
ISS | 20 | 27,480,448 | 27,482,990 | RGD:7240710 | OMIM | ||
Spondyloepiphyseal dysplasia, congenita
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Spondyloepiphyseal Dysplasia, Kimberley Type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Acan | aggrecan |
|
ISS | 1 | 134,787,341 | 134,848,992 | RGD:7240710 | OMIM | ||
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trpv4 | transient receptor potential cation channel, subfamily V, member 4 |
|
ISS | 12 | 43,226,933 | 43,265,889 | RGD:7240710 | OMIM | ||
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ddr2 | discoidin domain receptor tyrosine kinase 2 |
|
ISS | 13 | 85,801,449 | 85,846,636 | RGD:7240710 | OMIM | ||
| G | Tkt | transketolase |
|
ISS | 16 | 5,908,759 | 5,933,695 | RGD:7240710 | OMIM | ||
Spondylometaphyseal dysplasia, Kozlowski type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trpv4 | transient receptor potential cation channel, subfamily V, member 4 |
|
ISS | 12 | 43,226,933 | 43,265,889 | RGD:7240710 | OMIM | ||
SPONDYLOPERIPHERAL DYSPLASIA
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Stapes Ankylosis With Broad Thumb And Toes
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Nog | noggin |
|
ISS | 10 | 77,689,244 | 77,690,871 | RGD:7240710 | OMIM | ||
Strudwick syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Col2a1 | collagen, type II, alpha 1 |
|
ISS | 7 | 136,679,219 | 136,707,976 | RGD:7240710 | OMIM | ||
Stuve-Wiedemann syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lifr | leukemia inhibitory factor receptor alpha |
|
ISS | 2 | 56,426,058 | 56,477,198 | RGD:7240710 | OMIM | ||
Syndactyly
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fbn2 | fibrillin 2 |
|
ISS | 18 | 53,883,011 | 53,914,001 | RGD:1300320 | RGD | ||
| G | Hoxd13 | homeo box D13 |
|
ISS | 3 | 57,283,682 | 57,286,998 | RGD:1599534 | RGD | ||
| G | Irf6 | interferon regulatory factor 6 |
|
ISS | 13 | 108,986,973 | 109,006,180 | RGD:1600214 | RGD | ||
Syndactyly Cenani Lenz type
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lrp4 | low density lipoprotein receptor-related protein 4 |
|
ISS | 3 | 75,821,638 | 75,875,100 | RGD:7240710 | OMIM | ||
Syndactyly, type 3
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Gja1 | gap junction protein, alpha 1 |
|
ISS | 20 | 35,409,815 | 35,422,262 | RGD:7240710 | OMIM | ||
Syndactyly, Type IV
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lmbr1 | limb region 1 homolog (mouse) |
|
ISS | 4 | 1,177,941 | 1,344,583 | RGD:7240710 | OMIM | ||
Syndactyly, type v
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Hoxd13 | homeo box D13 |
|
ISS | 3 | 57,283,682 | 57,286,998 | RGD:7240710 | OMIM | ||
Synostosis
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Nog | noggin |
|
ISS | 10 | 77,689,244 | 77,690,871 | RGD:1600234 | RGD | ||
Synpolydactyly 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Hoxd13 | homeo box D13 |
|
ISS | 3 | 57,283,682 | 57,286,998 | RGD:7240710 | OMIM | ||
Tarsal carpal coalition syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Nog | noggin |
|
ISS | 10 | 77,689,244 | 77,690,871 | RGD:7240710 | OMIM | ||
Thanatophoric Dysplasia
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:2289863 | RGD | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
Thanatophoric dysplasia, type 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
Thanatophoric dysplasia, type 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr3 | fibroblast growth factor receptor 3 |
|
ISS | 14 | 82,683,191 | 82,697,229 | RGD:7240710 | OMIM | ||
THREE M SYNDROME 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Cul7 | cullin 7 |
|
ISS | 9 | 10,020,543 | 10,034,167 | RGD:7240710 | OMIM | ||
Three M Syndrome 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Obsl1 | obscurin-like 1 |
|
ISS | 9 | 74,761,815 | 74,780,292 | RGD:7240710 | OMIM | ||
Thyroid Dyshormonogenesis 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Slc5a5 | solute carrier family 5 (sodium iodide symporter), member 5 |
|
ISS | 16 | 19,046,200 | 19,056,281 | RGD:7240710 | OMIM | ||
Thyroid Dyshormonogenesis 2A
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Tpo | thyroid peroxidase |
|
ISS | 6 | 47,954,848 | 48,025,740 | RGD:7240710 | OMIM | ||
Thyroid Dyshormonogenesis 4
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Iyd | iodotyrosine deiodinase |
|
ISS | 1 | 34,244,640 | 34,259,649 | RGD:7240710 | OMIM | ||
Thyroid Dyshormonogenesis 6
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Duox2 | dual oxidase 2 |
|
ISS | 3 | 109,059,360 | 109,077,106 | RGD:7240710 | OMIM | ||
Timothy syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit |
|
ISS | 4 | 154,895,691 | 155,517,389 | RGD:1580173 | RGD | ||
| G | Cacna1c | calcium channel, voltage-dependent, L type, alpha 1C subunit |
|
ISS | 4 | 154,895,691 | 155,517,389 | RGD:7240710 | OMIM | ||
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Star | steroidogenic acute regulatory protein |
|
ISS | 16 | 70,642,580 | 70,647,203 | RGD:7240710 | OMIM | ||
TORG-WINCHESTER SYNDROME
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Mmp2 | matrix metallopeptidase 2 |
|
ISS | 19 | 15,246,036 | 15,275,061 | RGD:7240710 | OMIM | ||
TRICHORHINOPHALANGEAL SYNDROME, TYPE I
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Trps1 | trichorhinophalangeal syndrome I |
|
ISS | 7 | 86,855,378 | 87,076,668 | RGD:7240710 | OMIM | ||
TRIGONOCEPHALY 1
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgfr1 | Fibroblast growth factor receptor 1 |
|
ISS | 16 | 70,869,974 | 70,910,045 | RGD:7240710 | OMIM | ||
Tumoral Calcinosis, Hyperphosphatemic, Familial
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Fgf23 | fibroblast growth factor 23 |
|
ISS | 4 | 163,468,604 | 163,476,325 | RGD:7240710 | OMIM | ||
| G | Galnt3 | UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) |
|
ISS | 3 | 48,026,128 | 48,049,883 | RGD:7240710 | OMIM | ||
| G | Kl | Klotho |
|
ISS | 12 | 3,732,712 | 3,772,371 | RGD:7240710 | OMIM | ||
Van Buchem disease type 2
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lrp5 | low density lipoprotein receptor-related protein 5 |
|
ISS | 1 | 206,102,750 | 206,206,350 | RGD:7240710 | OMIM | ||
Weaver syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ezh1 | enhancer of zeste homolog 1 (Drosophila) |
|
ISS | 10 | 90,211,249 | 90,237,563 | RGD:7240710 | OMIM | ||
| G | Ezh2 | enhancer of zeste homolog 2 (Drosophila) |
|
ISS | 4 | 75,709,959 | 75,773,279 | RGD:7240710 | OMIM | ||
| G | Nsd1 | nuclear receptor binding SET domain protein 1 |
|
ISS | 17 | 15,362,482 | 15,471,961 | RGD:7240710 | OMIM | ||
Weill-Marchesani Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Adamts10 | ADAM metallopeptidase with thrombospondin type 1 motif, 10 |
|
ISS | 7 | 16,043,150 | 16,059,666 | RGD:7240710 | OMIM | ||
| G | Fbn1 | fibrillin 1 |
|
ISS | 3 | 112,608,480 | 112,804,118 | RGD:7240710 | OMIM | ||
Weill-Marchesani-Like Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Adamts17 | ADAM metallopeptidase with thrombospondin type 1 motif, 17 |
|
ISS | 1 | 121,324,404 | 121,491,594 | RGD:7240710 | OMIM | ||
Winkelman Bethge Pfeiffer syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Lhx3 | LIM homeobox 3 |
|
ISS | 3 | 4,381,890 | 4,389,132 | RGD:7240710 | OMIM | ||
Wolcott-Rallison syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Eif2ak3 | eukaryotic translation initiation factor 2 alpha kinase 3 |
|
ISS | 4 | 104,016,940 | 104,078,261 | RGD:7240710 | OMIM | ||
XFE Progeroid Syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Ercc4 | excision repair cross-complementing rodent repair deficiency, complementation group 4 |
|
ISS | 10 | 2,144,262 | 2,177,554 | RGD:7240710 | OMIM | ||
Zlotogora-Ogur syndrome
| |||||||||||
| Symbol | Object Name | GBrowse | Qualifiers | Evidence | Chr | Start | Stop | Reference | Source | ||
| G | Pvrl1 | poliovirus receptor-related 1 |
|
ISS | 8 | 46,739,657 | 46,799,051 | RGD:7240710 | OMIM | ||
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