| 600542 |
600542 |
9.108 |
Chondrosarcoma- extraskeletal myxoid (1) |
Chondrosarcoma extraskeletal myxoid (1) |
Chondrosarcoma extraskeletal myxoid fused to EWS in |
|
| 264300 |
264300 |
9.11 |
Pseudohermaphroditism- male- with gynecomastia (3) |
Pseudohermaphroditism male with gynecomastia (3) |
Hydroxysteroid (17-beta) dehydrogenase 3 |
|
| 602088 |
602088 |
9.116 |
Nephronophthisis- infantile (2) |
Nephronophthisis infantile (2) |
Nephronophthisis-2 (infantile) |
|
| 162400 |
162400 |
9.121 |
Neuropathy- hereditary sensory and autonomic- type 1 (2) |
Neuropathy hereditary sensory and autonomic type 1 (2) |
Hereditary sensory neuropathy type 1 |
|
| 229700 |
229700 |
9.122 |
Fructose-bisphosphatase deficiency (1) |
Fructose-bisphosphatase deficiency (1) |
Fructose-bisphosphatase 1 |
|
| 229600 |
229600 |
9.123 |
Fructose intolerance (3) |
Fructose intolerance (3) |
Aldolase B fructose-bisphosphatase |
|
| 227645 |
227645 |
9.127 |
Fanconi anemia- type C (3) |
Fanconi anemia type C (3) |
Fanconi anemia complementation group C |
|
| 601309 |
601309 |
9.129 |
Basal cell nevus syndrome- 109400 (3) |
Basal cell nevus syndrome 109400 (3); Basal cell carcinoma |
Patched Drosophila homolog of |
|
| 601309 |
601309 |
9.129 |
Basal cell carcinoma- sporadic (3) |
Basal cell nevus syndrome 109400 (3); Basal cell carcinoma |
Patched Drosophila homolog of |
|
| 278700 |
278700 |
9.131 |
Xeroderma pigmentosum- group A (3) |
Xeroderma pigmentosum group A (3) |
Xeroderma pigmentosum complementation group A |
|
| 253800 |
253800 |
9.134 |
Walker-Warburg syndrome- 236670 (2) (?) |
Muscular dystrophy Fukuyama congenital (3); ?Walker-Warburg |
Fukuyama congenital muscular dystrophy |
|
| 253800 |
253800 |
9.134 |
Fukuyama type congenital muscular dystrophy (2) |
Muscular dystrophy Fukuyama congenital (3); ?Walker-Warburg |
Fukuyama congenital muscular dystrophy |
|
| 132800 |
132800 |
9.135 |
Epithelioma- self-healing- squamous 1- Ferguson-Smith type (2) |
Epithelioma self-healing squamous 1 Ferguson-Smith type (2); |
Epithelioma self-healing squamous 1 Ferguson-Smith type |
?allelic to NBCCS |
| 132800 |
132800 |
9.135 |
Basal cell carcinoma (2) (?) |
Epithelioma self-healing squamous 1 Ferguson-Smith type (2); |
Epithelioma self-healing squamous 1 Ferguson-Smith type |
?allelic to NBCCS |
| 109400 |
109400 |
9.136 |
Basal cell nevus syndrome (2) |
Basal cell nevus syndrome (2) |
Nevoid basal cell carcinoma syndrome |
|
| 186855 |
186855 |
9.137 |
Leukemia-2- T-cell acute lymphoblastic (3) |
Leukemia-2 T-cell acute lymphoblastic (3) |
T-cell acute lymphocytic leukemia-2 |
33kb from breakpoint in t(7;9) |
| 223900 |
223900 |
9.144 |
Dysautonomia- familial (2) |
Dysautonomia familial (2) |
Dysautonomia (Riley-Day syndrome hereditary sensory autonomic |
|
| 154400 |
154400 |
9.149 |
Acrofacial dysostosis- Nager type (2) (?) |
?Acrofacial dysostosis Nager type (2) |
Acrofacial dysostosis-1 Nager type |
|
| 115501 |
115501 |
9.15 |
Albinism- brown- 203290 (1) |
Albinism brown 203290 (1); Albinism rufous 278400 (3) |
Tyrosinase-related protein 1 |
|
| 115501 |
115501 |
9.15 |
Albinism- rufous- 278400 (3) |
Albinism brown 203290 (1); Albinism rufous 278400 (3) |
Tyrosinase-related protein 1 |
|
| 238300 |
238300 |
9.17 |
Hyperglycinemia- nonketotic- type I (3) |
Hyperglycinemia nonketotic 1 (3) |
Glycine dehydrogenase (decarboxylating; glycine decarboxylase glycine |
|
| 125270 |
125270 |
9.176 |
Porphyria- acute hepatic (3) |
Porphyria acute hepatic (3); {Lead poisoning susceptibility to} (3) |
Aminolevulinate delta- dehydratase |
linked to ABO; ORM-ALAD-AK-ABO |
| 125270 |
125270 |
9.176 |
{Lead poisoning- susceptibility to} (3) |
Porphyria acute hepatic (3); {Lead poisoning susceptibility to} (3) |
Aminolevulinate delta- dehydratase |
linked to ABO; ORM-ALAD-AK-ABO |
| 147660 |
147660 |
9.18 |
Interferon- alpha- deficiency (1) |
Interferon alpha deficiency (1) |
Interferon alpha-1 |
very close to IFF by Fd LD; 15-30 genes |
| 223360 |
223360 |
9.182 |
Dopamine-beta-hydroxylase deficiency (1) |
Dopamine-beta-hydroxylase deficiency (1) |
Dopamine-beta-hydroxylase |
tightly linked to ABO |
| 128100 |
128100 |
9.184 |
Dystonia-1- torsion (3) |
Dystonia-1 torsion (3) |
Dystonia-1 torsion autosomal dominant |
|
| 137350 |
137350 |
9.187 |
Amyloidosis- Finnish type- 105120 (3) |
Amyloidosis Finnish type 105120 (3) |
Gelsolin |
40kb proximal to ABL |
| 253310 |
253310 |
9.189 |
Lethal congenital contracture syndrome (2) |
Lethal congenital contracture syndrome (2) |
Lethal congenital contracture syndrome |
|
| 191100 |
191100 |
9.206 |
Tuberous sclerosis-1 (3) |
Tuberous sclerosis-1 (3) |
Tuberous sclerosis-1 |
linked to ABO ABL |
| 602011 |
602011 |
9.21 |
Pancreatic endocrine tumors (1) (?) |
?Pancreatic endocrine tumors (1) |
Suppression of tumorigenicity 11 pancreas |
|
| 189980 |
189980 |
9.211 |
Leukemia- chronic myeloid (3) |
Leukemia chronic myeloid (3) |
Abelson murine leukemia viral (v-abl) oncogene homolog 1 |
fusion hybrid gene with BCR1 in CML |
| 103000 |
103000 |
9.212 |
Hemolytic anemia due to adenylate kinase deficiency (3) |
Hemolytic anemia due to adenylate kinase deficiency (3) |
Adenylate kinase-1 |
proximal to Ph1 break 9q34.1; AK1 to ORM = 17cM |
| 120900 |
120900 |
9.213 |
C5 deficiency (1) |
C5 deficiency (1) |
Complement component-5 |
|
| 600184 |
600184 |
9.215 |
Carnitine acetyltransferase deficiency (1) (?) |
?Carnitine acetyltransferase deficiency (1) |
Carnitine acetyltransferase |
|
| 114350 |
114350 |
9.216 |
Leukemia- acute myeloid (2) |
Leukemia acute myeloid (2) |
CAIN gene |
fusion gene with DEK in AML |
| 131195 |
131195 |
9.219 |
Hereditary hemorrhagic telangiectasia-1- 187300 (3) |
Hereditary hemorrhagic telangiectasia-1 187300 (3) |
Endoglin |
|
| 602575 |
602575 |
9.221 |
Nail-patella syndrome with open-angle glaucoma- 137750 (3) |
Nail-patella syndrome 161200 (3); Nail-patella syndrome with |
LIM homeo box transcription factor 1 beta |
|
| 602575 |
602575 |
9.221 |
Nail-patella syndrome- 161200 (3) |
Nail-patella syndrome 161200 (3); Nail-patella syndrome with |
LIM homeo box transcription factor 1 beta |
|
| 120215 |
120215 |
9.226 |
Ehlers-Danlos syndrome- type I- 130000 (3) |
Ehlers-Danlos syndrome type II 130010 (3); Ehlers-Danlos syndrome |
Collagen V alpha-1 polypeptide |
|
| 120215 |
120215 |
9.226 |
Ehlers-Danlos syndrome- type II- 130010 (3) |
Ehlers-Danlos syndrome type II 130010 (3); Ehlers-Danlos syndrome |
Collagen V alpha-1 polypeptide |
|
| 190198 |
190198 |
9.236 |
Leukemia- T-cell acute lymphoblastic (2) |
Leukemia T-cell acute lymphoblastic (2) |
Notch Drosophila homolog of 1 translocation-associated |
|
| 112250 |
112250 |
9.34 |
Bone dysplasia with medullary fibrosarcoma (2) |
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (2) |
Diaphyseal medullary stenosis with malignant fibrous histiocytoma |
|
| 247640 |
247640 |
9.35 |
Leukemia- acute lymphoblastic (2) |
Leukemia acute lymphoblastic (2) |
Lymphomatous acute lymphoblastic leukemia |
|
| 600160 |
600160 |
9.37 |
Melanoma- 155601 (3) |
Melanoma 155601 (3) |
Cyclin-dependent kinase inhibitor 2A (p16 inhibits CDK4) |
|
| 601606 |
601606 |
9.42 |
Trichoepithelioma- multiple familial (2) |
Trichoepithelioma multiple familial (2) |
Trichoepithelioma multiple familial |
|
| 600221 |
600221 |
9.45 |
Venous malformations- multiple cutaneous and mucosal- 600195 (3) |
Venous malformations multiple cutaneous and mucosal 600195 (3) |
TEK tyrosine kinase endothelial |
|
| 108120 |
108120 |
9.49 |
Distal arthrogryposis-1 (2) |
Arthrogryposis multiplex congenita distal type 1 (2) |
Arthrogryposis multiplex congenita distal type 1 |
|
| 250250 |
250250 |
9.55 |
Cartilage-hair hypoplasia (2) |
Cartilage-hair hypoplasia (2) |
Cartilage-hair hypoplasia |
|
| 230400 |
230400 |
9.57 |
Galactosemia (3) |
Galactosemia (3) |
Galactose-1-phosphate uridyltransferase |
|
| 133550 |
133550 |
9.6 |
Dicarboxylicaminoaciduria- 222730 (1) (?) |
?Dicarboxylicaminoaciduria 222730 (1) |
Solute carrier family 1 member 1 (high-affinity glutamate |
|
| 155900 |
155900 |
9.73 |
Melkersson-Rosenthal syndrome (2) (?) |
?Melkersson-Rosenthal syndrome (2) |
Melkersson-Rosenthal syndrome |
|
| 602014 |
602014 |
9.83 |
Hypomagnesemia with secondary hypocalcemia (2) |
Hypomagnesemia with secondary hypocalcemia (2) |
Hypomagnesemia with secondary hypocalcemia |
thought to be X-linked |
| 600884 |
600884 |
9.86 |
Cardiomyopathy- familial dilated 1B (2) |
Cardiomyopathy familial dilated 1B (2) |
Cardiomyopathy dilated-1B autosomal dominant |
|
| 229300 |
229300 |
9.87 |
Friedreich ataxia with retained reflexes (2) |
Friedreich ataxia (3); Friedreich ataxia with retained reflexes (2) |
Frataxin |
|
| 229300 |
229300 |
9.87 |
Friedreich ataxia (3) |
Friedreich ataxia (3); Friedreich ataxia with retained reflexes (2) |
Frataxin |
|
| 164759 |
164759 |
9.9 |
Ovarian carcinoma (2) |
Ovarian carcinoma (2) |
Oncogene OVC (ovarian adenocarcinoma oncogene) |
?chr.8 contribution to fusion gene |
| 600974 |
600974 |
9.91 |
Deafness- autosomal recessive 7 (2) |
Deafness autosomal recessive 7 (2) |
Deafness autosomal recessive 7 |
|
| 190100 |
190100 |
9.92 |
Geniospasm (2) |
Geniospasm (2) |
Geniospasm 1 |
|
| 200150 |
200150 |
9.94 |
Choreoacanthocytosis (2) |
Choreoacanthocytosis (2) |
Choreoacanthocytosis |
|
| 600998 |
600998 |
9.97 |
Bleeding diathesis due to GNAQ deficiency (1) |
Bleeding diathesis due to GNAQ deficiency (1) |
Guanine nucleotide-binding protein (G protein) q |
pseudogene on 2q |
