| 193300 |
193300 |
3.1 |
Renal cell carcinoma (3) |
von Hippel-Lindau syndrome (3); Renal cell carcinoma (3) |
von Hippel-Lindau syndrome |
|
| 601916 |
601916 |
3.108 |
Pancreatic cancer (2) |
Pancreatic cancer (2) |
Arginine-rich protein |
|
| 150250 |
150250 |
3.113 |
Larsen syndrome- autosomal dominant (2) |
Larsen syndrome autosomal dominant (2) |
Larsen syndrome 1 autosomal dominant |
|
| 164500 |
164500 |
3.114 |
Spinocerebellar ataxia-7 (3) |
Spinocerebellar ataxia-7 (3) |
Spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal |
|
| 601267 |
601267 |
3.118 |
{HIV infection- susceptibility/resistence to} (3) |
{HIV infection susceptibility/resistence to} (3) |
Chemokine (C-C) receptor 2 |
|
| 601373 |
601373 |
3.119 |
{HIV infection- susceptibility/resistance to} (3) |
{HIV infection susceptibility/resistance to} (3) |
Chemokine (C-C) receptor 5 |
|
| 139360 |
139360 |
3.122 |
Pituitary ACTH-secreting adenoma (3) |
Pituitary ACTH-secreting adenoma (3); Ventricular tachycardia |
Guanine nucleotide-binding protein (G protein) alpha-inhibiting |
on 12p13-p12 GNAI2L |
| 139330 |
139330 |
3.124 |
Night blindness- congenital stationary (3) |
Night blindness congenital stationary (3) |
Guanine nucleotide-binding protein (G protein) alpha-transducing |
|
| 600163 |
600163 |
3.129 |
Long QT syndrome-3 (3) |
Long QT syndrome-3 603830 (3); Brugada syndrome 601144 (3); |
Sodium channel voltage-gated type V alpha polypeptide |
|
| 600971 |
600971 |
3.132 |
Deafness- autosomal recessive 6 (2) |
Deafness autosomal recessive 6 (2) |
Deafness autosomal recessive 6 |
|
| 277730 |
277730 |
3.138 |
{Wernicke-Korsakoff syndrome- susceptibility to} (1) |
{Wernicke-Korsakoff syndrome susceptibility to} (1) |
Transketolase |
|
| 227646 |
227646 |
3.14 |
Fanconi anemia- type D (2) |
Fanconi anemia type D (2) |
Fanconi anemia complementation group D |
|
| 156845 |
156845 |
3.142 |
Waardenburg syndrome- type IIA- 193510 (3) |
Waardenburg syndrome type IIA 193510 (3); Waardenburg |
Microphthalmia-associated transcription factor |
|
| 156845 |
156845 |
3.142 |
Waardenburg syndrome/ocular albinism- digenic- 103470 (3) |
Waardenburg syndrome type IIA 193510 (3); Waardenburg |
Microphthalmia-associated transcription factor |
|
| 156845 |
156845 |
3.142 |
Tietz syndrome- 103500 (3) |
Waardenburg syndrome type IIA 193510 (3); Waardenburg |
Microphthalmia-associated transcription factor |
|
| 600151 |
600151 |
3.143 |
Bardet-Biedl syndrome 3 (2) |
Bardet-Biedl syndrome 3 (2) |
Bardet-Biedl syndrome 3 |
|
| 232500 |
232500 |
3.145 |
Glycogen storage disease IV (3) |
Glycogen storage disease IV (3) |
Glycogen branching enzyme |
|
| 600795 |
600795 |
3.151 |
Dementia- familial- nonspecific (2) |
Dementia familial nonspecific (2) |
Dementia familial nonspecific |
|
| 176880 |
176880 |
3.152 |
Protein S deficiency (3) |
Protein S deficiency (3) |
Protein S alpha |
prob. pseudogene PROSP contiguous on chr.3 |
| 173110 |
173110 |
3.153 |
Pituitary hormone deficiency- combined (3) |
Pituitary hormone deficiency combined (3) |
POU domain class 1 transcription factor 1 (Pit1 growth hormone |
|
| 160790 |
160790 |
3.154 |
Cardiomopathy- hypertrophic- mid-ventricular chamber type (3) |
Cardiomopathy hypertrophic mid-ventricular chamber type (3) |
Myosin light polypeptide-3 alkali; ventricular skeletal slow |
|
| 275120 |
275120 |
3.159 |
Thyrotropin-releasing hormone deficiency (1) |
Thyrotropin-releasing hormone deficiency (1) |
Thyrotropin-releasing hormone |
|
| 601253 |
601253 |
3.16 |
Muscular dystrophy- limb-girdle- type IC (3) |
Muscular dystrophy limb-girdle type IC (3) |
Caveolin-3 |
within 7-10kb of OXTR |
| 602668 |
602668 |
3.164 |
Myotonic dystrophy 2 (2) |
Myotonic dystrophy 2 (2) |
Myotonic dystrophy 2 |
|
| 253260 |
253260 |
3.17 |
Biotinidase deficiency (3) |
Biotinidase deficiency (3) |
Biotinidase |
|
| 121300 |
121300 |
3.171 |
Coproporphyria (3) |
Coproporphyria (3); Harderoporphyrinuria (3) |
Coproporphyrinogen oxidase |
|
| 121300 |
121300 |
3.171 |
Harderoporphyrinuria (3) |
Coproporphyria (3); Harderoporphyrinuria (3) |
Coproporphyrinogen oxidase |
|
| 190300 |
190300 |
3.174 |
Tremor- familial essential- 1 (2) |
Tremor familial essential 1 (2) |
Tremor familial essential 1 |
|
| 146200 |
146200 |
3.176 |
Hypoparathyroidism- familial (2) |
Hypoparathyroidism familial (2) |
Hypoparathyroidism |
?mutation in PCAR1 |
| 258900 |
258900 |
3.18 |
Oroticaciduria (3) |
Oroticaciduria (3) |
Uridine monophosphate synthetase (orotate phosphoribosyl transferase |
|
| 600882 |
600882 |
3.182 |
Charcot-Marie-Tooth neuropathy-2B (2) |
Charcot-Marie-Tooth neuropathy-2B (2) |
Charcot-Marie-Tooth neuropathy 2B |
|
| 600467 |
600467 |
3.184 |
{Malignant hyperthermia susceptibility 4} (2) |
{Malignant hyperthermia susceptibility 4} (2) |
Malignant hyperthermia susceptibility 4 |
|
| 126451 |
126451 |
3.19 |
{?Schizophrenia- susceptibility to} (2) |
{?Schizophrenia susceptibility to} (2) |
Dopamine receptor D3 |
|
| 601199 |
601199 |
3.193 |
Hypocalcemia- autosomal dominant- 601198 (3) |
Hypocalciuric hypercalcemia type I 145980 (3); Neonatal |
Calcium-sensing receptor |
15cM from RHO |
| 601199 |
601199 |
3.193 |
Neonatal hyperparathyroidism- 239200 (3) |
Hypocalciuric hypercalcemia type I 145980 (3); Neonatal |
Calcium-sensing receptor |
15cM from RHO |
| 601199 |
601199 |
3.193 |
Hypocalciuric hypercalcemia- type I- 145980 (3) |
Hypocalciuric hypercalcemia type I 145980 (3); Neonatal |
Calcium-sensing receptor |
15cM from RHO |
| 190000 |
190000 |
3.205 |
Atransferrinemia (1) |
Atransferrinemia (1) |
Transferrin |
|
| 601471 |
601471 |
3.208 |
Moebius syndrome-2 (2) |
Moebius syndrome-2 (2) |
Moebius syndrome 2 |
|
| 232050 |
232050 |
3.209 |
Propionicacidemia- type II or pccB type (3) |
Propionicacidemia type II or pccB type (3) |
Propionyl Coenzyme A carboxylase beta polypeptide |
pccB complementation group |
| 203500 |
203500 |
3.213 |
Alkaptonuria (3) |
Alkaptonuria (3) |
Homogentisate 12-dioxygenase (homogentisate oxidase) |
|
| 150210 |
150210 |
3.214 |
Lactoferrin-deficient neutrophils- 245480 (1) (?) |
?Lactoferrin-deficient neutrophils 245480 (1) |
Lactotransferrin |
|
| 601682 |
601682 |
3.216 |
Glaucoma 1C- primary open angle (2) |
Glaucoma 1C primary open angle (2) |
Glaucoma 1 open angle C |
|
| 180380 |
180380 |
3.217 |
Retinitis pigmentosa-4- autosomal dominant (3) |
Retinitis pigmentosa-4 autosomal dominant (3); Retinitis pigmentosa |
Rhodopsin |
|
| 180380 |
180380 |
3.217 |
Retinitis pigmentosa- autosomal recessive (3) |
Retinitis pigmentosa-4 autosomal dominant (3); Retinitis pigmentosa |
Rhodopsin |
|
| 180380 |
180380 |
3.217 |
Night blindness- congenital stationery- rhodopsin-related (3) |
Retinitis pigmentosa-4 autosomal dominant (3); Retinitis pigmentosa |
Rhodopsin |
|
| 106165 |
106165 |
3.218 |
Hypertension- essential- 145500 (3) |
Hypertension essential 145500 (3) |
Angiotensin receptor 1 |
|
| 278720 |
278720 |
3.22 |
Xeroderma pigmentosum- group C (3) |
Xeroderma pigmentosum group C (3) |
Xeroderma pigmentosum complementation group C |
|
| 276902 |
276902 |
3.221 |
Usher syndrome- type 3 (2) |
Usher syndrome type 3 (2) |
Usher syndrome-3 |
frequent in Finland; ?digenic interaction with MYO7A |
| 154705 |
154705 |
3.23 |
Marfan syndrome- type II (2) |
Marfan-like connective tissue disorder (2) |
Marfan-like connective tissue disorder |
|
| 110100 |
110100 |
3.231 |
Blepharophimosis- epicanthus inversus- and ptosis- type 1 (2) |
Blepharophimosis epicanthus inversus and ptosis type 1 (2) |
Blepharophimosis epicanthus inversus and ptosis 1 |
|
| 117700 |
117700 |
3.241 |
[Hypoceruloplasminemia- hereditary] (1) |
[Hypoceruloplasminemia hereditary] (1); Hemosiderosis |
Ceruloplasmin |
~15cM from TF |
| 117700 |
117700 |
3.241 |
Hemosiderosis- systemic- due to aceruloplasminemia (3) |
[Hypoceruloplasminemia hereditary] (1); Hemosiderosis |
Ceruloplasmin |
~15cM from TF |
| 222900 |
222900 |
3.251 |
Sucrose intolerance (3) |
Sucrose intolerance (3) |
Sucrase-isomaltase |
|
| 601402 |
601402 |
3.253 |
Leukemia- myeloid- acute (1) |
Leukemia myeloid acute (1) |
Myeloid leukemia factor-1 |
|
| 165215 |
165215 |
3.257 |
3q21q26 syndrome (1) |
3q21q26 syndrome (1) |
Ectropic viral integration site-1 (oncogene EVI1) |
|
| 600049 |
600049 |
3.258 |
Myelodysplasia syndrome-1 (3) |
Myelodysplasia syndrome-1 (3) |
Myelodysplasia syndrome-1 |
cen--EVI1--MDS1--EAP--tel |
| 177400 |
177400 |
3.264 |
Apnea- postanesthetic (3) |
Apnea postanesthetic (3) |
Butyrylcholinesterase |
distal to CP TF |
| 138160 |
138160 |
3.266 |
Fanconi-Bickel syndrome- 227810 (3) |
{Diabetes mellitus noninsulin-dependent} (3); Fanconi-Bickel |
Solute carrier family 2 (facilitated glucose transporter) member 2 |
|
| 138160 |
138160 |
3.266 |
Diabetes mellitus- noninsulin-dependent (3) |
{Diabetes mellitus noninsulin-dependent} (3); Fanconi-Bickel |
Solute carrier family 2 (facilitated glucose transporter) member 2 |
|
| 601154 |
601154 |
3.27 |
Cardiomyopathy- dilated- 1E (2) |
Cardiomyopathy dilated 1E (2) |
Cardiomyopathy dilated 1E autosomal dominant |
|
| 122470 |
122470 |
3.271 |
Cornelia de Lange syndrome (2) (?) |
?Cornelia de Lange syndrome (2) |
Cornelia de Lange syndrome 1 |
|
| 600044 |
600044 |
3.274 |
Thrombocythemia- essential- 187950 (3) |
Thrombocythemia essential 187950 (3) |
Thrombopoietin (megakaryocyte growth and development factor) |
|
| 109565 |
109565 |
3.276 |
Lymphoma- B-cell (2) |
Lymphoma B-cell (2); Lymphoma diffuse large cell (3) |
B-cell CLL/lymphoma-6 |
|
| 109565 |
109565 |
3.276 |
Lymphoma- diffuse large cell (3) |
Lymphoma B-cell (2); Lymphoma diffuse large cell (3) |
B-cell CLL/lymphoma-6 |
|
| 261515 |
261515 |
3.279 |
Peroxisomal bifunctional enzyme deficiency (1) |
Peroxisomal bifunctional enzyme deficiency (1) |
Enoyl-Coenzyme A hydratase/3-hydroxyacyl Coenzyme A dehydrogenase |
Order: cen-EHHADH-[KNG(HRG/AHSG)]-BCL6-tel |
| 142640 |
142640 |
3.282 |
Thrombophilia due to elevated HRG (1) (?) |
Thrombophilia due to HRG deficiency (3); ?Thrombophilia due to |
Histidine-rich glycoprotein |
|
| 228960 |
228960 |
3.283 |
[Kininogen deficiency] (3) |
[Kininogen deficiency] (3) |
Kininogen |
|
| 190160 |
190160 |
3.29 |
Thyroid hormone resistance- 274300- 188570 (3) |
Thyroid hormone resistance 274300 188570 (3) |
Thyroid hormone receptor beta (avian erythroblastic leukemia viral |
|
| 600700 |
600700 |
3.296 |
Lipoma (1) |
Lipoma (1) |
Lipoma-preferred-partner gene |
fused with HMGIC |
| 165500 |
165500 |
3.299 |
Optic atrophy 1 (2) |
Optic atrophy 1 (2) |
Optic atrophy 1 autosomal dominant |
|
| 173515 |
173515 |
3.317 |
Bernard-Soulier syndrome- type C (3) |
Bernard-Soulier syndrome type C (3) |
Glycoprotein IX platelet |
|
| 182280 |
182280 |
3.44 |
Small-cell cancer of lung (2) |
Small-cell cancer of lung (2) |
Small-cell cancer of lung |
centromeric to ERBA2 |
| 190182 |
190182 |
3.48 |
Colorectal cancer- familial nonpolyposis- type 6 (3) |
Colon cancer (3); Colorectal cancer familial nonpolyposis type 6 |
Transforming growth factor beta receptor II 70-80kD |
|
| 190182 |
190182 |
3.48 |
Colon cancer (3) |
Colon cancer (3); Colorectal cancer familial nonpolyposis type 6 |
Transforming growth factor beta receptor II 70-80kD |
|
| 116806 |
116806 |
3.52 |
Colorectal cancer (3) |
Colorectal cancer (3); Hepatoblastoma (3); Pilomatricoma (3); |
Catenin (cadherin-associated protein) beta 1 88kD |
|
| 168468 |
168468 |
3.63 |
Metaphyseal chondrodysplasia- Murk Jansen type- 156400 (3) |
Metaphyseal chondrodysplasia Murk Jansen type 156400 (3) |
Parathyroid hormone receptor-1 |
|
| 230500 |
230500 |
3.65 |
Mucopolysaccharidosis IVB (3) |
GM1-gangliosidosis (3); Mucopolysaccharidosis IVB (3) |
Galactosidase beta-1 |
3p14.2-p11 excluded |
| 230500 |
230500 |
3.65 |
GM1-gangliosidosis (3) |
GM1-gangliosidosis (3); Mucopolysaccharidosis IVB (3) |
Galactosidase beta-1 |
3p14.2-p11 excluded |
| 212138 |
212138 |
3.67 |
Carnitine-acylcarnitine translocase deficiency (3) |
Carnitine-acylcarnitine translocase deficiency (3) |
Carnitine-acylcarnitine translocase |
pseudogene on 6p12 |
| 120120 |
120120 |
3.76 |
Epidermolysis bullosa dystrophica- recessive- 226600 (3) |
Epidermolysis bullosa dystrophica dominant 131750 (3); |
Collagen VII alpha-1 polypeptide |
|
| 120120 |
120120 |
3.76 |
Epidermolysis bullosa- pretibial- 131850 (3) |
Epidermolysis bullosa dystrophica dominant 131750 (3); |
Collagen VII alpha-1 polypeptide |
|
| 120120 |
120120 |
3.76 |
Epidermolysis bullosa dystrophica- dominant- 131750 (3) |
Epidermolysis bullosa dystrophica dominant 131750 (3); |
Collagen VII alpha-1 polypeptide |
|
| 138320 |
138320 |
3.78 |
Hemolytic anemia due to glutathione peroxidase deficiency (1) |
Hemolytic anemia due to glutathione peroxidase deficiency (1) |
Glutathione peroxidase-1 |
?pseudogene on 3p11-p12 |
| 120436 |
120436 |
3.86 |
Muir-Torre family cancer syndrome- 158320 (3) |
Colorectal cancer hereditary nonpolyposis type 2 (3); Turcot |
mutL E. coli homolog of 1 |
|
| 120436 |
120436 |
3.86 |
Turcot syndrome with glioblastoma- 276300 (3) |
Colorectal cancer hereditary nonpolyposis type 2 (3); Turcot |
mutL E. coli homolog of 1 |
|
| 120436 |
120436 |
3.86 |
Colorectal cancer- hereditary nonpolyposis- type 2 (3) |
Colorectal cancer hereditary nonpolyposis type 2 (3); Turcot |
mutL E. coli homolog of 1 |
|
| 238310 |
238310 |
3.99 |
Hyperglycinemia- nonketotic- type II (1) |
Hyperglycinemia nonketotic 2 (1) |
Aminomethyltransferase (glycine cleavage system protein T) |
|